JAX - Personalized Medicine News from The Jackson Laboratory

Vanderbilt genetic test is a good start, but there's still a ways to go in cancer treatments

Wed, 26 Jan 2011 14:04:04 -0500

January 23, 2011/Houston, TX (Houston Chronicle) - A new cancer test that performs a liquid biopsy in patients garnered widespread headlines last week, but it's not going to immediately transform treatment of the disease.

In some ways the most significant aspect of the test may be that it highlights the promise of both early cancer detection and personalized medicine, two key areas of medical research that may, one day, combine to end much of the menace of cancer.

"I'm pretty optimistic about the future of cancer treatment," said Dr. Kent Osborne, director of the Dan L. Duncan Cancer Center at Baylor College of Medicine.

"I think right now we're just at the tip of the iceberg with the problem, but we now have the tools to work through them. It's an exciting time."

Genomics: Medicine's holy grail?

Wed, 26 Jan 2011 13:45:14 -0500

January 16, 2011/Morris, NJ (Dailyrecord.com) - Today personalized medicine is helping patients in a prognostic way by heralding potential diseases. But genetic tests also can help "theranostically" when they reveal which medications a body will process well, given its DNA sequencing. The advancement is significant, considering adverse drug reactions kill 100,000 American patients a year and injure 2.2 million others, according to the American Journal of Public Health.

Since the DNA of organisms also can be scanned - and matched with a library of sequences - genetic tests are useful diagnostically. They quickly can identify many foreign agents, such as viruses and cancers, that invade the body's cells.

Though the benefits are clear, some scientific and legal experts also call for a healthy dose of skepticism about genomics, calling it an emerging and complex field with implications that reach into issues of privacy and insurance.

New Vanderbilt genetic testing program helps cardiac patients avoid complications from Plavix

Wed, 26 Jan 2011 13:31:51 -0500

January 9, 2011/Nashville, TN (The Tennessean) - Vanderbilt University Medical Center is staking out an ambitious path to help doctors end the guessing game about what medicines work best for a particular patient.

The hospital has begun checking patients for all the known genetic variations that can interfere with medicines for a whole array of diseases and disorders. The extensive genotyping is now standard procedure for all its heart catheterization patients.

"I really feel like it saved my life," said Janet Bennett of Lebanon, TN.

New test under development could find single cancer cell in blood

Wed, 26 Jan 2011 11:49:55 -0500

January 4, 2011/Boston, MA (CNN) - Johnson and Johnson will partner with Massachusetts General Hospital to develop and market a blood test that could find a single cancer cell circulating in a person's blood, the company said Monday.

Researchers hope the test will be used by oncologists as a diagnostic tool aimed at discovering as early as possible if a cancer has spread, as well as by researchers in coming up with new drug therapies.

Dr. Mehmet Toner, director of the BioMicroElectroMechanical Systems Resource Center in Massachusetts General's Center for Engineering in Medicine, says while it will take at least five years before the test is on the market, it's another step toward personalized medicine and the implications for patients are significant. "It is very big. It has the potential to turn cancer into a chronic disease, because we can monitor patients individually and respond with treatment to the genetic makeup of their cancer."

23andMe wins NIH grant to conduct web-based drug response research

Mon, 20 Dec 2010 13:07:15 -0500

December 16, 2010/Mountain View, CA (23andMe) - 23andMe has launched a project funded by the National Institutes of Health (NIH) which is aimed at validating 23andMe's highly-scalable platform for pharmacogenomics research. The company received $190,000 in stimulus funding from the American Recovery and Reinvestment Act of 2009 for "Web-based Phenotyping for Genome-Wide Association Studies of Drug Response" from NIH's National Human Genome Research Institute.

"One of 23andMe's research goals is to identify novel pharmacogenetic associations using web-based phenotyping of efficacy and toxicity," said Anne Wojcicki. co-founder and CEO of 23andMe. "If this project is successful in yielding replications, it will set the stage for rapid, well-powered and cost-effective research on many mediations. In particular, it will facilitate research on new medications as they hit the market, serving to significantly advance personalized medicine."

Personalized medicine becoming a reality

Mon, 20 Dec 2010 12:45:55 -0500

December 13, 2010/Los Angeles, CA (Huffington Post) - It is likely that if Jay Leno stands on a street corner and asks a passerby what is meant by the term personalized medicine, the answer would be, "That is what takes place when I see my doctor. The doctor takes a history, does a physical, makes a diagnosis and prescribes the medicine that should take care of the problems." What could be more personalized than that?

Well, actually the term personalized medicine has acquired a new definition. It refers to providing highly individualized treatments, both therapeutic and preventive, based upon the patient's particular genomic make-up, which will define their susceptibility to develop certain diseases or their response to specific treatments. This will allow physicians to give the right drug to the right patient or to outline preventive measures to help reduce the likelihood that a patient will develop a disease to which he or she is susceptible.

This may sound a little like science fiction, and granted, it is fairly new, but in the past decade personalized medicine has been making steady advances with researchers and physicians, and perhaps a bigger indicator, is now influencing the business model of major drug companies.

The gene-environment enigma

Mon, 20 Dec 2010 12:27:19 -0500

December 2, 2010/St. Louis, MO (EurekAlert) - Personalized medicine centers on being able to predict the risk of disease or response to a drug based on a person's genetic makeup. But a study by scientists at Washington University School of Medicine in St. Louis suggests that, for most common diseases, genes alone only tell part of the story.

That's because the environment interacts with DNA in ways that are difficult to predict, even in simple organisms like single-celled yeast, their research shows.

"The effects of a person's genes - and, therefore, their risk of disease - are greatly influenced by their environment," says senior author Barak Cohen, PhD, a geneticist at Washington University School of Medicine. "So, if personalized medicine is going to work, we need to find a way to measure a human's environment."

Era of personalized oncology

Mon, 20 Dec 2010 12:25:53 -0500

November 29, 2010/ScienceDaily - Millions of cancer patients worldwide may soon be able to receive more effective, personalized treatments for their disease thanks to developments in the understanding of cancer biology, experts will say at the Cancer Biology for Clinicians Symposium organized by the European Society for Medical Oncology (ESMO) in Nice this week.

However, to make the most of this coming transformation, governments, pharmaceutical companies and doctors urgently need to adapt the way drugs are developed, the experts say.

"Cancer therapy is arguably at the most exciting time in its history," said José Baselga, from MGH Cancer Center in Boston, USA, co-chair of the symposium and ESMO Past-President. "It is at the confluence of two new movements, one toward personalized medicine and the other toward the use of new molecularly targeted cancer therapeutics that exploit the tumor's genetic and molecular signature. These movements provide many challenges, but also the opportunity for making paradigm shifts in the way we think of and treat cancer."

New cancer database aims to help clinicians develop better treatments

Tue, 26 Oct 2010 16:19:32 -0500

October 26, 2010/Washington, DC (EurekAlert) - Georgetown Lombardi Comprehensive Cancer Center, part of Georgetown University Medical Center, announces the launch of the Georgetown Database of Cancer or G-DOC. Under development for two years, G-DOC is a repository for biological information that is normally only available in scattered information libraries and tissue banks, if at all. Data sets grow as researchers deposit new information. G-DOC also contains relevant tools to analyze the data, plus new ones not seen before.

An overall goal of G-DOC's use is to accelerate the ability to tailor or personalize medical treatment for patients. For physicians and researchers, G-DOC means they need only access a single website portal on their computers to open a unique universe of information on cancer - something that has not been widely available before to oncology researchers who must access a variety of data through different information systems. Researchers at Georgetown will be able to incorporate the G-DOC analytical capabilities immediately into their clinical and laboratory research, as their funding allows. The G-DOC developers hope to open the database for use outside of Georgetown in 2011.

Widening the hunt for targeted cancer therapy

Mon, 18 Oct 2010 14:16:04 -0400

September 27, 2010/Washington, DC - Cancer is a tale of two sets of genetic code, your own and your tumor's - and tracing the unique areas of damage makes for a way to target treatment.

Fifty years after the discovery of the first direct genetic link to cancer, scientists are assessing the state of so-called targeted therapy - with nearly 30 treatments on the market and a dozen or so more under study.

"We're still not using the 'C' word, 'cure,'" cautioned personalized medicine director Jeff Boyd of Fox Chase Cancer Center, who helped organized a meeting in Philadelphia on Tuesday to mark the anniversary and examine the future of targeted therapy.

But, he added, "there is real potential to transform many cancers into chronic diseases."

One next challenge is how to expand the number of targets to attack, in part by answering what the new chief of the National Cancer Institute calls the "big questions" about what makes this disease so intractable.

Video Interview: Francis Collins discusses "How close are we to "personalized" medicines?"

Mon, 18 Oct 2010 14:12:46 -0400

September 27, 2010/Washington, DC (Bigthink.com) - Dr. Francis Collins, head of the NIH, answers questions like "Some people have expressed disappointment that the decoding of the human genome has not yielded more. How do you feel about this?" and "How close are we to creating personalized medicines?" in this 4:25 video interview.

Audio Interview: Ethics and personalized medicine - who decides the price of human life?

Mon, 18 Oct 2010 14:09:00 -0400

September 24, 2010/NPR's Science Friday - Researchers finished sequencing the human genome in 2003. And even before that, they were linking particular genes to different diseases, finding all kinds of mutations that could lead to breast cancer and other ailments. All of which led people to think: If doctors knew more about patients' genes, they might be able to tell which illnesses each patient would get and how well his or her body would respond to certain treatments.

They could tailor treatments to each individual to get the best treatment with the fewest side effects and not give expensive medicine to people who didn't need it. If that isn't the Holy Grail of medicine, it's close. It's certainly on the track.

This personalized medicine therefore sounds like a very good thing - maybe even a cost-saving thing. We already spend 17 percent of our gross domestic product on health care, the kind of figure that's been bandied around from months and months with all the health care talk in Washington.

President Obama and many of the doctors interviewed on SCIENCE FRIDAY in recent months and years have talked about the problem of rising health care costs. Maybe more personalized treatments could eliminate some of the unnecessary spending. Ah, but it's never that simple.

There's a problem, as today's guest writes in the current issue of The Hastings Report. What if your DNA says you will not get as much benefit from a $100,000 cancer drug as your neighbor, that your neighbor would live two years with the drug but you'd live only two months? Does that mean your neighbor gets the drug and you don't?

Joining the show today to explore these kinds of tricky ethical issues is Leonard Fleck, professor of philosophy and medical ethics at Michigan State University in East Lansing.

UCSF receives $15 million to advance personalized medicine

Thu, 30 Sep 2010 16:28:11 -0400

September 7, 2010/San Francisco, CA (UCSF News) - UCSF scientists will receive two grants totaling $15.1 million over the next five years to expand their research into how genes affect an individual’s response to medication and to strengthen a global network of researchers involved in these efforts. The UCSF team is the largest recipient in a $161.3 million effort by the National Institutes of Health to expand a national collaboration of scientists known as the Pharmacogenomics Research Network (PGRN), with the goal of paving the way for personalized medication. "The grants dramatically extend our ability nationwide and globally to make the promise of individualized pharmaceutical care for patients a reality," said Mary Anne Koda-Kimble, PharmD, who is dean of the UCSF School of Pharmacy in which the two UCSF projects are housed. "We see so much variability in how patients respond to drugs. What a great day it will be when we have the tools to easily predict response and adjust treatment on a personal level."

Which treatment is most likely to help you quit?

Thu, 30 Sep 2010 16:26:27 -0400

September 7, 2010/Philadelphia, PA (EurekAlert) - A variety of smoking cessation treatments are currently available for the more than 18 million adult Americans try to quit smoking each year, but success rates vary widely. Despite the importance of quitting smoking, more personalized approaches to smoking cessation treatment are needed to help smokers pick the right method that will work best for them. A major new personalized medicine clinical trial, led by addiction researchers at the University of Pennsylvania, will study how a smokers' genetic make-up influences their quitting success.

A team of researchers led by Caryn Lerman, PhD, professor of Psychiatry at the University of Pennsylvania School of Medicine and Annenberg Public Policy Center, has received a $12 million five-year grant to study the pharmacogenetics of nicotine addiction treatment.

Know your cancer, know your treatment

Thu, 30 Sep 2010 16:24:17 -0400

September 7, 2010/Cambridge, MA (MIT Technology Review) - Many cancer researchers believe that therapies could be more effective if they target genetic aberrations in a patient's cancer. In recent years, there have been a handful of successes in targeting cancer treatments in this way: for example, the drug Herceptin can be effective in breast cancer patients with a specific mutation in the HER2 gene.

But so far, this kind of targeted cancer treatment has been limited to a select few genetic mutations in specific cancers, even though most cancers derive from several genetic mutations in combination. Foundation Medicine wants to create a test that gives a comprehensive view of the genetic aberrations in a cancer sample.

NIH funds new international study on mood-stabilizer lithium

Thu, 30 Sep 2010 16:22:39 -0400

September 7, 2010/San Diego, CA (UC San Diego) - An international team, led by University of California, San Diego School of Medicine researchers, has been awarded a $6.5 million grant from the National Institutes of Health (NIH) to study the pharmacogenomics of a key mood-stabilizing drug used to treat bipolar disorder.

The grant expands the NIH’s Pharmacogenomics Research Network (PGRN), a long-term, multi-million dollar effort to investigate and fulfill the potential of personalized medicine.

Nanoscale DNA sequencing could spur revolution in personal health care

Mon, 30 Aug 2010 17:44:15 -0400

August 16, 2010/Seattle, WA (EurekAlert) - In experiments with potentially broad health care implications, a research team led by a University of Washington physicist has devised a method that works at a very small scale to sequence DNA quickly and relatively inexpensively.

That could open the door for more effective individualized medicine, for example providing blueprints of genetic predispositions for specific conditions and diseases such as cancer, diabetes or addiction.

"The hope is that in 10 years people will have all their DNA sequenced, and this will lead to personalized, predictive medicine," said Jens Gundlach, a UW physics professor and lead author of a paper describing the new technique published the week of Aug. 16 in the Proceedings of the National Academy of Sciences.

The technique creates a DNA reader that combines biology and nanotechnology using a nanopore taken from Mycobacterium smegmatis porin A. The nanopore has an opening 1 billionth of a meter in size, just large enough to measure a single strand of DNA as it passes through.

UC Berkeley scales back DNA testing program

Mon, 30 Aug 2010 17:43:04 -0400

August 12, 2010/Berkeley, CA (UC Berkeley) - The California Department of Public Health has instructed the University of California, Berkeley, not to proceed with a portion of its ground-breaking program to educate students about genetic testing and personalized medicine.

The program, called "Bring Your Genes to Cal," allowed incoming students, on a voluntary and anonymous basis, to submit DNA samples, with the promise that they would receive their personal results of tests for three common genetic variants. Some 600 of more than 5,000 incoming freshmen and transfers students have already volunteered their saliva samples and signed consent forms allowing these tests.

While the university still plans to analyze the DNA samples in a campus research lab, students who voluntarily returned samples will not be allowed to see their personal results. Instead, the test results will be presented in aggregate to students during lectures and panel discussions planned for the fall 2010 semester.

Vanderbilt takes cancer personally

Mon, 30 Aug 2010 17:41:02 -0400

August 4, 2010/Nashville, TN (Tennessean.com) - Vanderbilt-Ingram Cancer Center has launched the Personalized Cancer Medicine Program, a new initiative that is drilling down to the genetic level of patients to help tailor individualized treatments that would never have been possible in the past. Vanderbilt is on the cutting edge with a handful of other institutions across the country using the new technique.

Doctors are examining DNA of patients with lung cancer and melanoma tumors to identify what genetic mutation is causing the cancers to grow. A treatment that works for one patient might not work for another, so doctors hope to use information from the test to modify therapies for each patient. The program is the first of its kind in the Southeast and among only a handful across the country.

"Everyone's cancer is different," said Dr. William Pao, director of the Personalized Cancer Medicine Program. "It's not worth giving a therapy to 100 patients if it only works in 10."

Hamburg, Collins chart course to personalized medicine

Mon, 30 Aug 2010 17:37:44 -0400

July 22, 2010/New England Journal of Medicine - Frances Collins (NIH) and Margaret Hamburg (FDA) lay out the path to personalized medicine as they see it from their current perspective in 2010.

Here's an excerpt from the essay:
"Major investments in basic science have created an opportunity for significant progress in clinical medicine. Researchers have discovered hundreds of genes that harbor variations contributing to human illness, identified genetic variability in patients' responses to dozens of treatments, and begun to target the molecular causes of some diseases. In addition, scientists are developing and using diagnostic tests based on genetics or other molecular mechanisms to better predict patients' responses to targeted therapy."

The challenge is to deliver the benefits of this work to patients. As the leaders of the National Institutes of Health (NIH) and the Food and Drug Administration (FDA), we have a shared vision of personalized medicine and the scientific and regulatory structure needed to support its growth. Together, we have been focusing on the best ways to develop new therapies and optimize prescribing by steering patients to the right drug at the right dose at the right time.

We recognize that myriad obstacles must be overcome to achieve these goals. These include scientific challenges, such as determining which genetic markers have the most clinical significance, limiting the off-target effects of gene-based therapies, and conducting clinical studies to identify genetic variants that are correlated with a drug response. There are also policy challenges, such as finding a level of regulation for genetic tests that both protects patients and encourages innovation. To make progress, the NIH and the FDA will invest in advancing translational and regulatory science, better define regulatory pathways for coordinated approval of codeveloped diagnostics and therapeutics, develop risk-based approaches for appropriate review of diagnostics to more accurately assess their validity and clinical utility, and make information about tests readily available."

Read the full essay.

Jackson Laboratory, USF announce new partnership in Collier County

Mon, 30 Aug 2010 17:36:11 -0400

July 21, 2010/Naples, Fla. - The Jackson Laboratory announced today that its first medical partner for the new research and education village in Collier County will be the University of South Florida, one of the nation’s fastest-growing biomedical research universities.

Jackson and USF will collaborate on a variety of initiatives to lead the nation toward personalized medicine, in which disease prevention and treatment are based on a person’s unique genetic makeup, or genome. The partnership will result in new research gains and education programs, as well as providing better health care and increased economic opportunities for the citizens of Collier County and Southwest Florida.

The human genome: Big advances, many questions

Fri, 9 Jul 2010 18:52:49 -0400

July 8, 2010/USA Today - Ten years after President Clinton hailed the completion of the first draft of the human genome, on June 25, 2000, these doctors-to-be are grappling with the many challenges posed by a dawning era of genomic medicine.

The race to sequence the genome, which took 10 years and cost $3 billion, has been overtaken by a new goal: to sequence genomes by the thousands to parse the linkages between genes and disease.

Stunning advances in sequencing technology have cut the time it takes to decode a genome from a decade to a couple of weeks. The cost has dropped from $3 billion, about $1 for each of the genome's 3 billion chemical components, to less than $10,000, with the $1,000 genome in sight.

"That will allow for many thousands, maybe millions, of genome projects in future years," says Kevin Davies, author of The $1,000 Genome, The Scientific Breakthrough That Will Change Our Lives (Free Press), due out in September.

Already, genetic analysis is a commodity sold on the Internet for as little as $500. Each day, more people submit DNA for analysis - just as the students did for their class - and confront perplexed doctors with profound and frequently unanswerable questions about what the results mean.

That's because most genomic information is awash in uncertainty, Kim says. Few diseases are caused by a single, readily identifiable gene; most result from the interplay of genes and a host of other factors, from lifestyle to the environment.

Stanford joins U.C. Berkeley in controversial genetic testing of students

Fri, 9 Jul 2010 17:19:11 -0400

July 6, 2010/Berkeley, CA (Scientific American) - This week, the University of California, Berkeley will mail saliva sample kits to every incoming freshman and transfer student. Students can choose to use the kits to submit their DNA for genetic analysis, as part of an orientation program on the topic of personalized medicine. But U.C. Berkeley isn't the only university offering its students genetic testing. Stanford University's summer session started two weeks ago, including a class on personal genomics that gives medical and graduate students the chance to sequence their genotypes and study the results.

The idea behind the two novel projects is that students will learn about optimizing treatment based on one's genetic profile most effectively if they are studying their own DNA - an idea that has met with both praise for educational innovation and criticism centering on potential ethical issues.

Study shows in Warfarin management, genotyping matters

Wed, 23 Jun 2010 10:55:16 -0400

June 23, 2010/MedCo Research Institute - A joint study between the Mayo Clinic and Medco Research shows an impressive 30% drop in hospitalization rates for patients who were genetically tested prior to starting warfarin.*

>> Read the study summary

>> Dr. Robert S. Epstein blogs about the results

>> Dr. Epstein discusses the study with Dr. Bimal Shah from Clinical Trial Results (MD TV)

*Note: These study results were originally presented at the American College of Cardiology’s 59th annual scientific session on March 16, 2010.

Personalized medicine advances in non-small-cell lung cancer treatment

Wed, 23 Jun 2010 10:12:35 -0400

June 21, 2010/Houston, TX - Oncology NEWS International (Cancernetwork.com) - The treatment armamentarium for nonsmall-cell lung cancer has received fresh ammunition in the past few months with FDA approval of erlotinib (Tarceva) for maintenance therapy and positive preliminary results from a trial that looked at the value of biomarkers in the disease.

In the BATTLE (Biomarker-integrated Approaches of Targeted Therapy for Lung Cancer Elimination: Personalizing Therapy for Lung Cancer) trials, biomarkers were pitted against different drugs. This technique of adaptive randomization allowed patients to be paired with the therapies most likely to benefit them.

While the trial confirmed the vital role biomarkers play in designing NSCLC treatment, the study also offered proof that adaptive randomization (pairing patients with the therapies that offered them the best chances) was workable. BATTLE leaders suggested that the experience demonstrated a new way to approach and conduct all cancer clinical trials.

"This trial has shown us that we can learn as we go," said Edward S. Kim, MD, an associate professor of thoracic/head and neck medical oncology at Houston's M.D. Anderson Cancer Center and the principle investigator of the BATTLE trial. "We decided that instead of running the same studies over and over again, adding new drugs to old drugs and hoping for a benefit, we had to stop looking at the drugs and start looking at the patients."

Making strides in personalized NSCLC therapy
Oncologists have hit a ceiling with the current crop of chemotherapeutic agents for NSCLC, said Dr. Subramaniam, an interim-chief of thoracic oncology at Georgetown University Hospital in Washington, DC.

Dr. Subramaniam said the discovery of mutations in certain key genes in lung cancer, and the drugs that target these subsets of cancer mutations, "have made great strides in improving the prognosis for patients with lung cancer."

"If we are going to make significant progress in the care of lung cancer patients, we need to identify the molecular basis of the cancer in specific subsets of patients and develop personalized or targeted therapies. That is the primary goal of the BATTLE trial," she added.

Tailored treatment promises many benefits, but will we get there fast enough?

Wed, 23 Jun 2010 10:33:16 -0400

June 20, 2010/San Diego, CA (San Diego Union-Tribune) - Sarah Jenkins recently peered into a genetic crystal ball and got a glimpse of her potential future. It was not encouraging.

With a grandfather and uncle dead at an early age from colon cancer, the 31-year-old Escondido woman decided to be tested for Lynch syndrome, a rare gene mutation that greatly increases the risk of colon cancer. The gene analysis showed that Jenkins had the mutation.

The knowledge was frightening. But, Jenkins said, it also proved "empowering."

"I know that this is part of my genetics," said Jenkins, who was tested through the Family Cancer Genetics program at Moores UCSD Cancer Center. "And with that information I also know what I need to do to make sure things don’t go wrong for me."

In the emerging age of personalized medicine - where physicians can use a patient’s genetic profile to more effectively screen for and treat a host of diseases - Jenkins now undergoes regular cancer screening tests.

Doctors warn, however, that knowing your DNA is just a piece of the puzzle that is disease susceptibility.

"Science points out that individuals are different, and one size does not fit all when it comes to medicine," said Edward Abrahams, director of the New York-based Personalized Medicine Coalition. "But science alone isn’t going to drive the pace of innovation. How we regulate, reimburse and educate will all make a difference."

"Personalized medicine is where science and medicine are headed; no one disagrees with that," Abrahams said. "What people disagree about is how fast we are going to get there."

Hamburg, Collins Chart Course to Personalized Medicine in NEJM

Wed, 23 Jun 2010 10:22:29 -0400

June 16, 2010/New York, NY (GenomeWeb News) - US Food and Drug Administration Commissioner Margaret Hamburg and National Institutes of Health Director Francis Collins presented their vision for the future of personalized medicine in a perspectives article appearing online in the New England Journal of Medicine yesterday.

In it they explained that while researchers are inching closer to personalized medicine - identifying genetic variants involved in diagnosing disease and predicting treatment response - there are still a range of significant scientific and policy issues that need to be dealt with before personalized medicine reaches its full potential.

AMA adopts new personalized medicine policy during annual meeting

Wed, 23 Jun 2010 11:41:35 -0400

June 15, 2010/Chicago, IL (PRNewswire) - The American Medical Association (AMA), the nation's largest physician group, voted at its Annual Meeting to adopt the following new scientific policy regarding personalized medicine:

Enhancing Patient Care by Using Personalized Medicine
The American Medical Association (AMA) adopted today at its Annual Meeting new policy to support personalized medicine as a way to enhance patient care. "Personalized medicine" (PM) refers to health care that is informed by a person's unique clinical, genetic, and environmental information. It has long been known that individual patients respond to the same disease and treatments differently, and the goal of PM is to identify these individual differences so that the best treatments and preventions can be used. In order to maximize the benefit of PM, the health care workforce needs ongoing education about the use of genetic technologies in clinical care. Adequate oversight and regulation must be implemented, and coverage of clinically useful PM should be considered by insurers.

"Personalized medicine is an extension of traditional approaches in health care, further allowing physicians to refine diagnosis, treatment and prevention," said AMA Board Member Peter W. Carmel, M.D. "The AMA will inform physicians about emerging personalized medicine issues and develop educational resources and point-of-care tools to assist physicians in implementing personalized medicine."

Read the full article to see all newly adopted policies.

Audio Interview: Determining breast cancer treatments - Avastin

Wed, 23 Jun 2010 10:06:08 -0400

June 6, 2010/Indiana State University (Sound Medicine) - Audio interview with David Flockhart, MD/Phd, director, Division of Clinical Pharmacology Bryan Schneider, MD, assistant professor of Medicine & Medical and Molecular Genetics.

Dr. Flockhart is a pharmacogeneticist and expert on drug interactions. He and his fellow researchers work in the complex realm of personalized medicine to determine how a particular drug will work for a particular individual.

In this interview from the "Sound Medicine" series, Flockhart chats with medical oncologist Dr. Bryan Schneider. They discuss how to decide which breast cancer patients will benefit from the drug Avastin, and which patients won't.

Scrutiny of personal gene tests increases

Wed, 23 Jun 2010 09:54:37 -0400

May 30, 2010/LiveScience News - Direct-to-consumer genetic tests allow anyone with a few hundred dollars to submit a saliva sample and get back genetic information on everything from family ancestry to Alzheimer's disease.

The powerful technology could lead to personalized medical treatments based on individuals' genetic risks. But these tests have long been controversial, with many bioethicists worried they could mislead people about their disease risks.

Now the government is taking a harder look at the tests. A Food and Drug Administration warning earlier this month prompted drugstore chain Walgreens to delay plans to sell gene test kits in stores. Less than a week later, the House of Representatives Energy and Finance Committee launched an investigation of personal genomics companies 23andMe, Navigenics and Pathway Genomics.

And government officials aren't the only ones interested in learning more about how these gene tests tick. In recent years, researchers have started to investigate why people subject their genome to such scrutiny - and what they do when they get the results.

Audio Interview: Determining blood clotting treatments - Plavix

Wed, 23 Jun 2010 09:48:32 -0400

May 30, 2010/Indiana State University (Sound Medicine) - Audio interview with David Flockhart, MD/PhD, clinical pharmacologist, IU School of Medicine and Rolf Kreutz, MD, interventional cardiology fellow, Krannert Institute of Cardiology.

One of the predictions we’ve heard repeatedly in recent years is the notion of personalized medicine: drugs that are crafted to work specifically with your body’s particular biology.

Dr. David Flockhart is a clinical pharmacologist on faculty at the IU School of Medicine. We regularly turn to him to explain drug interactions or how drugs affect the body.

He and several others in his laboratory focus on the promise of personalized medicine.

One of those researchers is Dr. Rolf Kreutz. Kreutz studies Plavix, also known as clopidogrel, which is commonly given to prevent blood clots after a heart patient has had coronary stents implanted to clear blockages.

In this interview from the "Sound Medicine" series, we listen in on a conversation between these two medical researchers as they try to figure out which patients will benefit from Plavix, and which ones won’t.

Walgreens postpones plans to sell consumer genetic tests

Wed, 23 Jun 2010 09:46:47 -0400

May 13, 2010/CNN Health - Walgreens has postponed its plans to sell personal genetic test kits after the Food and Drug Administration intervened.

Genetic kits from Pathway Genomics, a San Diego, California-based company were to be sold at the nationwide drug stores starting Friday. But the announcement prompted criticism from genetics experts and the FDA, which warned consumers to be skeptical about the unapproved product.

"We've elected not to move forward with offering the Pathway product to our customers until we have further clarity on this matter," a Walgreens statement said.

Pathway Genomics' tests purport to examine saliva samples to assess a person's risk of getting more than 70 diseases including heart disease, hypertension and lung cancer. The company also offers carrier testing for pre-pregnancy planning, which would test for mutations that cause genetic disorders such as cystic fibrosis and Tay-Sachs disease.

The $20 kits contain a plastic tube to contain saliva, instructions and a postage-paid envelope to send the spit sample to the laboratory. The testing costs about $79 to $249.

Despite such claims, geneticists say the scientific understanding is not sufficient to accurately assess risks for common diseases such as cancer, diabetes and heart disease. While data about genetic markers can be obtained, scientists don't know exactly what those mean.

NIH Chief Francis Collins Q&A on comparative effectiveness research (CER)

Wed, 7 Apr 2010 09:10:19 -0400

April 6, 2010/Washington, D.C. (Kaiser Health News) - Kaiser's Jennifer Evans recently posed questions about the future of health care, the NIH's role in health care reform, and challenges facing today's physicians as they try to educate the public in a way that will influence their "health behavior."

Excerpts from the edited conversation include:

Q: President Obama has made it clear that lowering health care costs remains at the core of his effort to overhaul the health system. One way your agency has been asked to help is through comparative effectiveness research. What do you see as the value of CER?

Research ought to do something to tell us what works. If you have multiple ways of approaching a particular medical problem that are all being used out there by some patients and some physicians it would be nice to know which of those approaches actually has the greatest benefit. This is an opportunity to provide the evidence that health care reform needs in order to design a system that offers to people interventions that are actually well-validated that you know are going to be beneficial.

Q: As a leader of the Human Genome Project, you had to take a complex subject and effectively make it relevant to the public. With that in mind, what is the best way to approach translating the results of CER to the public, particularly when they challenge previous recommendations?

I think the personalizing of the recommendations is part of the solution to the current confusion. You wouldn’t go into the shoe store and just pick shoes off the rack without noticing if they were your size and yet, oftentimes with medical recommendations, that's kind of what we've had to do because it was the best information we had.

As we learn more about individual's risk - from family history to DNA testing to understanding of environmental exposures - we ought to be able to come up with recommendations that are more personalized. I think people are ready for that. I think they're hungry for that. I think they are more likely to be responsive to that, but we have a long ways to go in terms of preparing people for that kind of individualized approach to medicine.

New cancer biomarker may herald personalized medicine era

Fri, 26 Mar 2010 13:04:50 -0400

March 26, 2010/London (ScienceDaily) - Scientists at Oxford University have led a study that shows how simple diagnostic tests to identify which patients will respond to which cancer drugs can be developed, potentially ushering in a new era of personalised cancer medicine.

The Oxford researchers, with colleagues at the MD Anderson Cancer Center at the University of Texas, Houston, confirm their approach works in results published in the journal PNAS. They show that a specific protein can be used as a 'biomarker' to identify which patients with a rare type of non-Hodgkin lymphoma would benefit from a new class of cancer drug.

'This is the first report of a biomarker that predicts how a patient's cancer will respond to a cancer drug,' says Professor Nick La Thangue of Oxford University, who led the research. 'The presence or absence of the biomarker can now be used as a diagnostic test to identify which patients will benefit from this drug.

Personalized medicine poised to become part of US healthcare reform plan

Fri, 26 Mar 2010 12:38:25 -0400

March 24, 2010/GenomeWeb - Personalized medicine became a part of the national healthcare agenda this week as US President Barack Obama signed the historic healthcare reform bill into law.

Over the weekend, the US House of Representatives passed HR 3590 by a 219-to-212 vote. The bill, which cleared the Senate in December, includes a section creating an independent Patient-Centered Outcomes Research Institute.

The non-profit institute will be charged with conducting research that informs the public and healthcare providers about the comparative risks and benefits of marketed drugs, devices, and medical products.

Specifically, with regard to personalized medicine, the institute will also examine the utility and effectiveness of medical products and services in "various subpopulations" differentiated by race, ethnicity, sex, age, co-morbidities, as well as genetic and molecular subtypes.

"For personalized medicine, this vote is historic," Amy Miller, public policy director at the Personalized Medicine Coalition, told Pharmacogenomics Reporter. "It represents the first time that the principles of personalized medicine have been passed by both houses of Congress."

NIH Announces Genetic Testing Registry

Fri, 26 Mar 2010 12:04:41 -0400

March 18, 2010/Bethesda, MD - The National Institutes of Health announced today that it is creating a public database that researchers, consumers, health care providers, and others can search for information submitted voluntarily by genetic test providers. The Genetic Testing Registry (GTR) aims to enhance access to information about the availability, validity, and usefulness of genetic tests.

Currently, more than 1,600 genetic tests are available to patients and consumers, but there is no single public resource that provides detailed information about them. GTR is intended to fill that gap.

The overarching goal of the GTR is to advance the public health and research into the genetic basis of health and disease.

Genetic testing reduces warfarin (Coumadin) hospitalizations by 30%

Tue, 23 Mar 2010 09:58:23 -0400

March 17, 2010/Atlanta, GA - Doctors are reporting an exciting win for gene testing and personalized medicine: Checking patients' DNA before starting them on a popular blood thinner helps get the tricky dose right and keep them out of the hospital.

The drug is warfarin, sold as Coumadin and in generic form. About 2 million Americans start on it each year to prevent blood clots after surgery or for other medical conditions.

However, the world's most common blood thinner is also one of its most dangerous drugs. One person's ideal dose can be 10 times that of another's. Even certain foods can throw it off.

Too much warfarin can lead to bleeding, too little can lead to clots, and either one can kill. Up to 20 percent of patients wind up in the hospital in their first six months on the drug.

Several companies sell tests for the two genes that control how warfarin is metabolized. But doctors wonder: Is it worth a $250-to-$400 test to guide the dose of a drug that costs less than $6 a month?

A new study, presented Tuesday at an American College of Cardiology conference, suggests it is.

New rapid genotyping tool will help clinicians in prescribing warfarin

Thu, 11 Mar 2010 14:11:35 -0500

February 25, 2010/Columbus, OH - Researchers from the Ohio State University have developed a rapid, multiplexed genotyping method to identify the single nucleotide polymorphisms (SNPs) that affect warfarin dose. The related report by Yang et al, "Rapid Genotyping of SNPs Influencing Warfarin Drug Response by SELDI-TOF Mass Spectrometry," appears in the March 2010 issue of the Journal of Molecular Diagnostics.

Warfarin is an anti-coagulant that is commonly used to prevent blood clots and embolism. However, warfarin dosing is complicated by the fact that it interacts with many commonly used medications and even chemicals in some foods. Certain genetic variations, SNPs, also affect warfarin sensitivity and metabolism.

A group led by Dr. Haifeng M. Wu of the Ohio State University has developed a new rapid method to genotype SNPs that will help clinicians to choose appropriate doses of warfarin for individual patients.

Personalized genetic test offers new way to track cancer

Thu, 11 Mar 2010 13:49:14 -0500

February 19, 2010/Baltimore, MD (Johns Hopkins) - By mapping the genetic code of malignant tumors, researchers have developed a new technique to identify and track cancer: a blood test derived from a patient's unique DNA.

To develop the test, researchers used samples of healthy and cancerous tissue from four colorectal and two breast cancer patients. They mapped the entire genetic code of each, and then combed through data to identify chunks of scrambled DNA in the cancerous tissue -- a mark of cancer.

ASU scientists develop universal DNA reader

Thu, 11 Mar 2010 12:55:55 -0500

February 11, 2010/Tempe, AZ (EurekAlert) - Arizona State University scientists have come up with a new twist in their efforts to develop a faster and cheaper way to read the DNA genetic code. They have developed the first, versatile DNA reader that can discriminate between DNA's four core chemical components - the key to unlocking the vital code behind human heredity and health.

Led by ASU Regents' Professor Stuart Lindsay, director of the Biodesign Institute's Center for Single Molecule Biophysics, the ASU team is one of a handful that has received stimulus funds for a National Human Genome Research Initiative, part of the National Institutes of Health, to make DNA genome sequencing as widespread as a routine medical checkup.

To make their research dream a reality, Lindsay's team has envisioned building a tiny, nanoscale DNA reader that could work like a supermarket checkout scanner, distinguishing between the four chemical letters of the DNA genetic code, abbreviated by A, G, C, and T, as they rapidly pass by the reader. To do so, they needed to develop the nanotechnology equivalent of threading the eye of a needle. In this case, the DNA would be the thread that could be recognized as it moved past the reader 'eye.'

New genome project targets childhood cancers

Mon, 25 Jan 2010 16:52:50 -0500

January 25, 2010/Cancernetwork.com - A joint project announced Jan. 25 between St. Jude Children’s Hospital and the Washington University School of Medicine will apply genomic tools, the expertise of these institutions, and decades’ worth of patient samples and data about childhood cancers to a project as ambitious practically as the human genome project was scientifically.

Over the next three years, with $65 million in NIH and private funding, St. Jude and Wash U will plot the genetic blueprint of childhood leukemias, brain tumors, and sarcomas. In this Pediatric Cancer Genome Project, they will study samples taken from more than 600 patients treated at St. Jude for childhood cancer, decoding and comparing differences in the genomes of normal and cancerous cells from each patient. They will look for the genetic errors that cause different cancers, then correlate outcomes and responses to various therapies with specific genomic patterns.

Personalized prescription: CVS, Medco at vanguard of effort to match patients, drugs by genetic tests

Mon, 25 Jan 2010 16:49:05 -0500

January 25, 2010/The Boston Globe - For years, hype has built around personalized medicine - a tantalizing future in which insights gleaned from genetic tests will result in individualized treatment, guiding the drugs people take and at what doses.

Now, moves by two large companies that focus on controlling drug costs are leading the way for the field to become a routine part of medicine.

CVS Caremark, the Woonsocket, R.I., company that is the largest provider of prescriptions in the United States, said late last year it expects to begin offering genetic testing services to clients of its pharmacy benefit management program this year. It also invested in Generation Health, a company with offices in Waltham that is focused on helping companies manage costs and improve health by using genetic information.

A CVS competitor, Medco Health Solutions, offers genetic tests to guide the use of two drugs and plans to add four more tests this year. Medco has 270 clients, representing 7 million people, participating in its personalized medicine program.

The companies work with insurance plans or large employers and use their buying power to keep drug costs low. They want to use genetic tests to sift out patients who are unlikely to benefit from a drug they have been prescribed or who could experience dangerous or costly side effects.

Thomas Goetz: Welcome to the Era of Personalized Medicine

Fri, 29 Jan 2010 11:49:45 -0500

January 22, 2010/HuffingtonPost.com (Editorial) - Thomas Goetz, executive editor of Wired magazine and author of "The Decision Tree" talks about the unrealized potential and current applications of personalized medicine. From his perspective, it's not all about drugs.

From the post: "There are certain ideas that hover in the ether, hinting at some perfect future where our cars will fly and robots will fetch our slippers. Personalized medicine is one of these - an idea that someday, somehow, we will all enjoy customized medical care that keeps us healthier and enables us to live better and longer."

Will 2009 be remembered as the year personalized medicine went mainstream?

Wed, 13 Jan 2010 12:26:27 -0500

January 13, 2010/GenomeWeb - "Pharmacogenomics" may still not be a word that is commonly heard around most kitchen tables, but "personalized medicine" certainly became a familiar term in 2009.

The increasing prevalence of direct-to-consumer genomics firms; PGx programs initiated by pharmacy services providers; a high-profile anti-gene patenting case; and a contentious healthcare reform debate that put a spotlight on paying for the right drug for the right person might just make 2009 the year personalized medicine started to go mainstream.

NIH Director Francis Collins' new book "The Language of Life: DNA and the Revolution in Personalized Medicine"

Wed, 6 Jan 2010 12:12:25 -0500

January 6, 2010/Harper Collins Publishing - Doctor, author, geneticist and newly designated head of the National Institutes of Health Francis Collins has written a book that, according to its publisher, "... will forever change how you think about your body, your health, and the future of medicine. "

The following refers to Collins' latest release "The Language of Life: DNA and the Revolution in Personalized Medicine," Harper Collins, 2010.

"With accessible, insightful prose, Dr. Collins describes the medical, scientific, and genetic revolution that is currently unlocking the secrets of 'personalized medicine,' and offers practical advice on how to utilize these discoveries for you and your family’s current and future health and well-being. In the words of Dr. Jerome Groopman (How Doctors Think), The Language of Life 'sets out hope without hype, and will enrich the mind and uplift the heart.'"

>> Read the full publisher's description, get purchase information, hear audio excerpts and more.

New DMET chip could significantly advance cancer therapies, inform treatment tailored to individual genetic makeup

Mon, 4 Jan 2010 11:39:59 -0500

January 1, 2010/Washington, D.C. (ScienceDaily) - It's the ultimate goal in the treatment of cancer: tailoring a person's therapy based on his or her genetic makeup. While a lofty goal, scientists are steadily moving forward, rapidly exploiting new technologies. Researchers at Georgetown Lombardi Comprehensive Cancer Center report a significant advance in this field of research using a new chip that looks for hundreds of mutations in dozen of genes.

The goal of personalized medicine is to determine the best treatment and the optimal dose carrying the fewest side-effect, especially as new drugs are discovered and treatment options increase. Variations in our genes encode proteins, which impact how a drug is metabolized or taken in by the cells. This directly impacts the drug's effectiveness and the kinds of side-effects that may be caused by its toxicity.

"Currently, available genotyping tools test only a few genes at a time," explains John F. Deeken, a pharmacogentic researcher at Lombardi. "With a new chip called DMET, as many as 170 genes can be examined for more than a thousand variations. This type of turn-key testing, if validated, could eventually replace highly-specialized, time-consuming and labor-intensive testing -- thus allowing more institutes the opportunity to pursue genotyping and pharmocogenetic research. That alone would be a significant development for our field and for expediting the research many of us believe is the future of medicine."

The Mutations That Kill: 1st Cancer Genomes Sequenced

Thu, 17 Dec 2009 16:27:50 -0500

December 17, 2009/Discover's "80 beats" blog - The genomes of lung and skin cancer have been decoded by scientists at the UK-based Wellcome Trust Sanger Institute near Cambridge, which is the first time an entire cancer gene map has been created.

The scientists say they have pinpointed specific DNA errors that may cause tumors in these two cancers, both of which have direct known causes - smoking for lung cancer and sun exposure for skin cancer. Researchers predict these maps will offer patients a personalized treatment option that ranges from earlier detection to the types of medication used to treat cancer.

The genetic maps will also allow cancer researchers to study cells with defective DNA and produce more powerful drugs to fight the errors, according to the the study’s scientists. News reports are heralding the new research as revolutionary, however it will be years, perhaps decades, before the full implications of the work are understood.

Stumbling Towards Nirvana: Promises of personalized medicine

Mon, 30 Nov 2009 15:45:30 -0500

November 30, 2009/TheScientist.com - The promises of personalized medicine have failed to materialize. That may be about to change.

Several years ago, Francis Collins, current director of the National Institutes of Health, described the coming era of personalized medicine as "medical Nirvana." It’s a compelling vision, one that I fervently hope will be achieved. But it is taking such a long time to gain the necessary enlightenment, that it sometimes appears that this particular Nirvana is a fantasy. Where do things stand today?

Let’s remind ourselves of the three-part promise of personalized medicine. First, everyone’s genome will be sequenced cheaply and the sequence will be interpretable, and predictive. Second, the bulk of a person’s anticipated medical problems, discerned by analysis of the sequence, will be avoided by genetic, lifestyle or therapeutic means. And third, where a disease has to be treated, it will be done with medicines that are exquisitely tailored to both patient and ailment

No risk, no mess, no problem.

The reality (to date) has been dramatically different.

$232 Billion Personalized Medicine Market to Grow 11 Percent Annually, says PricewaterhouseCoopers

Tue, 8 Dec 2009 16:12:26 -0500

December 8, 2009/New York, NY (PRNewswire) - Personalized medicine, which targets individualized treatment and care based on personal and genetic variation, is creating a booming market, but it is a disruptive innovation that PricewaterhouseCoopers says will create both opportunities and challenges for traditional healthcare and emerging market participants.

PricewaterhouseCoopers projects that the market for a more personalized approach to health and wellness will grow to as much as $452 billion by 2015. Its estimates are based on a broad view of the market opportunity beyond drugs and devices to also include demand for high-tech storage and data-sharing as well as low-tech products and services aimed at consumers' heightened awareness of their own health risks.

The promise of personalized medicine has been predicated upon advances in genomics, proteomics and metabolomics, completion of the human genome map and development of "targeted" diagnostics and therapeutics. Genomic testing enables physicians to identify an individual's susceptibility to disease, predict how a given patient will respond to a particular drug, eliminate unnecessary treatments, reduce the incidence of adverse reactions to drugs, increase the efficacy of treatments and, ultimately, improve health outcomes.

Download the PricewaterhouseCoopers report "The New Science of Personalized Medicine"

Editorial: Rarely do we defeat cancer

Tue, 8 Dec 2009 15:53:27 -0500

December 7, 2009/St. Petersburg Times - Editorial by John L. Marshall, Director, Otto J. Ruesch Center for the Cure of Gastrointestinal Cancers, Lombardi Comprehensive Cancer Center, Georgetown University

. . . . We must further explore the genetic makeup of patients and their cancers. We can no longer diagnose cancers using only a microscope. We must profile them at a molecular level to determine precise treatments, instead of using our current trial-and-error approach.

To assess a patient's specific genetic problem, we must understand all the possible permutations and patterns. This will come only from a comprehensive clinical database - a high priority of the administration's reform plans. For example, we know there are at least four different types of breast cancer; they look exactly the same under a microscope but are very different diseases. The repeated biopsies and blood tests that are needed, none of which is covered by most health insurance plans, will become critical to finding our answers.

The future of cancer care will rely on personalized medicine. This requires a significant change to our medical system, which is built around one size-fits-all treatment and seemingly unrestricted access to care. The system answers our emotional needs and provides some hope for a cure, but moves us forward only a few yards at a time.

Delving into personalized genomics: Personalized Medicine journal publishes special issue

Fri, 27 Nov 2009 10:04:49 -0500

November 18, 2009/GenomeWeb Daily - The journal Personalized Medicine has a special issue with articles focusing on personal genomics, assembled by Elaine Mardis and Jeantine Lunshof. In their introduction, they say that "genome-based personalized medicine is no longer a thought experiment and the course of both disease research and medical practice will be substantially altered as a result" and that "the ethical, legal and societal implications of the developments in the genomic sciences cannot be ignored and require ongoing assessment."

In an editorial, James Watson recounts his experience being the first person to have his genome sequenced with next-gen tools.

Other articles tackle sequencing cancer genomes, consumer genomics, the personal genome project, and more.

Read the full issue here.

New law bans genetic discrimination

Wed, 25 Nov 2009 11:04:57 -0500

November 21, 2009/Washington, D.C. (L.A. Times) - The most sweeping federal anti-discrimination law in nearly 20 years takes effect today, prohibiting employers from hiring, firing or determining promotions based on genetic makeup.

Additionally, health insurers will not be allowed to consider a person's genetics -- such as predisposition for Parkinson's disease -- to set insurance rates or deny coverage.

Not since the Americans With Disabilities Act of 1990 has the federal government implemented such far-reaching workplace protections. Stuart J. Ishimaru, acting chairman of the Equal Employment Opportunity Commission, said in a statement that the law reaffirms the idea that people have a right to be judged solely on merit.

"No one should be denied a job or the right to be treated fairly in the workplace based on fears that he or she may develop some condition in the future," he said.

Going "back to the future" in personalized medicine; using new technologies to revisit old drugs

Wed, 25 Nov 2009 10:46:41 -0500

October 12, 2009/London (Reuters) - Shaping the future of personalized medicine is not all about developing expensive new drugs -- it will also mean revisiting older, cheaper medicines armed with new genetic knowledge.

Recent discoveries of genetic clues as to why medicines work better in some patients than others suggests combining new tests with old drugs will be a cost-effective approach -- attractive to governments and insurance companies, experts say.

"There are two sides to personalized medicine -- there is work in looking for new gene clues for the design of new drugs, and we are also doing a lot of work on currently used medications," said Colin Palmer of Dundee University, whose role as head of pharmacogenomics puts him at the heart of work to use genetic information to personalize medicine.

"We're trying to get rid of the one-size fits all approach ... and create more effective drugs tailored to the individual."

Few believe it is possible to make all drugs work for all patients all the time, but experts say the current situation -- where many patients do not get any benefit -- demands action.

‘DNA Transistor’ could revolutionize genetic testing

Wed, 25 Nov 2009 10:38:59 -0500

October 7, 2009/Yorktown Heights, NY - Researchers at IBM have found a way to meld biology and computing to create a new chip that could become the basis for a fast, inexpensive, personal genetic analyzer. The DNA sequencer involves drilling tiny nanometer-size holes through computer-like silicon chips, then passing DNA strands through them to read the information contained in their genetic code.

"We are merging computational biology and nanotechnology skills to produce something that will be very useful to the future of medicine," Gustavo Stolovitzky, an IBM researcher, told Wired.com.

The "DNA transistor" could make it faster and cheaper to sequence individuals’ complete genomes. In so doing, it could help facilitate advances in bio-medical research and personalized medicine. For instance, having access to a person’s genetic code could help doctors create customized medicine and determine an individual’s predisposition to certain diseases or medical conditions.

Researchers use CSI-like forensic techniques to personalize medicine for breast cancer patients

Wed, 25 Nov 2009 10:20:24 -0500

October 7, 2009/Buffalo, NY (Medical News Today) - Breast cancer therapy that's customized for each patient's personal genetic makeup is one step closer to reality, thanks to a new use for crime-lab technology pioneered at Roswell Park Cancer Institute (RPCI). A team led by Petr Starostik, MD, chief of RPCI's Clinical Molecular Diagnostics lab, is using CSI-type methods to multiply the reliability of testing that predicts whether a given patient will benefit from a first-line chemotherapy drug, or should avoid it and its harsh side effects.

According to Dr. Starostik, better testing is one of the keys to "personalized medicine," the long-sought solution to the problem that many drugs turn out to be ineffective for up to 50 percent of those who take them. "So far, we know that personal genetic variations in tumors affect each patient's response," he says.

The Starostik team's innovation is a reliable, automated test for abnormal activity in the tumor-cell gene HER2, which marks patients who are unlikely to respond to the tumor-inhibiting compound Trastuzumab. While Trastuzumab is frequently prescribed, its side effects are harsh. Today's HER2 tests often yield ambiguous results, he says, partly because they rely on manual lab work and subjective visual analysis.

At OSU Conference, Hood touts family sequencing as way forward for personal genomics

Wed, 25 Nov 2009 10:15:03 -0500

October 7, 2009/Columbus, OH (GenomeWeb News) - The future of personal genomics, according to Leroy Hood, is not in randomly sequencing individuals, but sequencing the genomes of entire families.

"Sequencing families is the key," Hood, president of the Institute for Systems Biology, said at a conference hosted by Ohio State University's Center for Personalized Healthcare this week.

"It’s a waste of money to sequence random individuals," Hood said, adding that family sequencing reduces the signal-to-noise ratio and lowers error the rate of sequencing studies, allowing for more efficient identification of candidate genes.

In order to illustrate his hypothesis, Hood said that his laboratory had sequenced the genomes of four members of a family - mother, father, and two children - to uncover candidate genes for two Mendelian diseases. He did not discuss the candidate genes or the diseases in detail. However, he noted that his team had identified 340,000 new SNPs from 4.2 million SNPs from the four genomes, and was able to narrow that down to three candidate genes for two diseases.

Personalized medicine 'killer apps' will transform care model, says Dr. Leroy Hood

Wed, 25 Nov 2009 10:10:31 -0500

October 2, 2009/Columbus, OH (PR Newswire) - The next major personalized medicine advances will create therapies that are so effective, consumers will demand systemwide change in the health care industry to gain access, the inventor of the DNA gene sequencer said today at The Ohio State University Medical Center's Personalized Health Care National Conference.

Dr. Leroy Hood, president of the Institute for Systems Biology, said personalized medicine's first "killer apps" - therapies that will be nearly 100 percent effective based on patient genes and other individual factors - will drive the transformation of health care from trial-and-error effectiveness.

Hood says he not only envisions faster and cheaper bulk patient data analysis supporting personalized medicine solutions within the next 10 years, but also home-based testing enabling individuals to check therapeutic response as often as they wish. "If you take Lipitor, why not test your genetic assays three or four times a week?" he said.

Companion diagnostics take off

Mon, 16 Nov 2009 14:31:20 -0500

October 13, 2009/GenomeWeb Technology - As the saying goes, all good things must come to an end. And for pharma, that means banking on the one-size-fits-all model of drug development. Companion diagnostics, a relatively new concept that's hitting the frontlines of drug discovery and development, is promising to change the way drugs are made and marketed.

With more and more biomarkers being discovered and validated, the field of companion diagnostics has more than a leg to stand on. Using a companion test - whether it looks for genetic, proteomic, or gene expression markers - to predict whether a drug will work in someone or what kind of dose that person should take is becoming more common and, according to experts, will eventually become the norm. "It's a new field, and it's growing," says Peter Tolias, executive director of the Institute of Genomic Medicine at the UMDNJ-New Jersey Medical School.

Scripps pioneers individualized medicine by offering genetic testing to stent patients

Mon, 16 Nov 2009 12:41:29 -0500

October 8, 2009/San Diego, CA (Vocus/PRWeb) - In what is believed to be a first for a health system in the United States, Scripps Health is now offering genetic testing as part of its care for cardiovascular patients planning to undergo elective stent procedures.

The tests will determine if patients have one or more of the common gene variants linked to an inability to metabolize the anti-clotting drug Plavix (clopidrogel). Plavix is the second-most commonly prescribed drug in the United States and is given to most patients after they receive coronary stents.

The genetic test results will give doctors vastly improved data that will lead to an individualized approach to each patient's treatment following a stent procedure. Stents are tiny metal tubes that cardiologists use to open clogged arteries.

"This represents a landmark program in individualized medicine, based on considerable new data and new choices for one of the most commonly prescribed medications and medical procedures in the world," said Dr. Eric Topol, chief academic officer of Scripps Health. "This program demonstrates Scripps Health's commitment to being at the forefront of individualized cardiovascular medicine."

Gene data tool advances prospects for personalized medicine, starting with type 1 diabetes

Tue, 13 Oct 2009 12:42:02 -0400

October 11, 2009/Philadelphia, PA (ScienceDaily) - A sophisticated computational algorithm, applied to a large set of gene markers, has achieved greater accuracy than conventional methods in assessing individual risk for type 1 diabetes.

A research team led by Hakon Hakonarson, M.D., Ph.D., director of the Center for Applied Genomics at The Children's Hospital of Philadelphia, suggests that their technique, applied to appropriate complex multigenic diseases, improves the prospects for personalizing medicine to an individual's genetic profile. The study appears in the October 9 issue of the online journal PLoS Genetics.

Genome-wide association studies (GWAS), in which automated genotyping tools scan the entire human genome seeking gene variants that contribute to disease risk, have yet to fulfill their potential in allowing physicians to accurately predict a person's individual risk for a disease, and thus guide prevention and treatment strategies.

By applying a "machine-learning" algorithm that finds interactions among data points, say the authors, they were able to identify a large ensemble of genes that interact together. After applying their algorithm to a GWAS dataset for type 1 diabetes, they generated a model and then validated that model in two independent datasets. The model was highly accurate in separating type 1 diabetes cases from control subjects, achieving AUC scores in the mid-80s.

IBM to Enter DNA Sequencing Field with Nanopore Technology

Wed, 7 Oct 2009 09:52:45 -0400

October 6, 2009/New York, NY (GenomeWeb Daily News) - IBM announced today that it is developing a nanoscale DNA sequencer, with the goal of sequencing a human genome at a cost of under $1,000.

The firm is one of several companies or researchers that have been awarded at least $5.7 million from the National Human Genome Research Institute this year to support their efforts in developing technologies for sequencing a human genome at low cost. The grants are part of NHGRI's Revolutionary Genome Sequencing Technologies grant program, which also is known as the "$1,000 Genome" program.

IBM said in a statement that scientists from four fields - nanofabrication, microelectronics, physics, and biology - are working together to "master the technique that threads a long DNA molecule through a three nanometer wide hole, known as a nanopore, in a silicon chip." The firm said that its researchers are working on a process for controlling the rate at which a DNA strand moves through the nanopore so that a reader can accurately decode what is in the DNA.

National conference focuses on personalized health care

Thu, 1 Oct 2009 09:49:30 -0400

October 1, 2009/Columbus, OH (Central Ohio Source) - With much of the nation's attention focused on the future of health care in the country, many health-care leaders will be in Columbus this week to discuss one growing segment of that future: personalized medicine.

Today and Friday, more than 200 representatives from the health-care industry, government, academia and consumer and patient advocacy groups are expected to convene at The Ohio State University's Biomedical Research Tower to hear from national leaders to talk about topics such as using a person's genes to determine his or her susceptibility to disease or tailoring treatment for disease and ailments.

Personalized health care is a burgeoning industry and this week's conference is one of only a few of its kind held in the U.S. Last year's event was the first held at OSU.

This year, with the backdrop of a national debate on health care, the event is even more relevant, said Clay Marsh, senior associate vice president for research in the OSU Office of Health Sciences, vice dean for research in the College of Medicine and executive director of the OSU Center for Personalized Health Care.

"This is one of the big opportunities for us to provide care that's more personalized - focused care at the individual level," he said.

Analyzing cancer cells to choose treatments

Thu, 1 Oct 2009 09:43:36 -0400

September 30, 2009/New York, NY (MIT Technology Review) - In a new clinical trial for prostate cancer, scientists will capture rare tumor cells circulating in patients' blood, analyze them using a specialized microchip, and use the results to try to predict how well the patient will respond to a drug. The trial reflects a new phase of personalized medicine for cancer, enabled by microfluidics technologies that can isolate scarce cancer cells and detect very small changes in gene expression. Physicians ultimately hope these chips can become a routine part of clinical care for cancer. "We need to be able to profile the tumor at the time we are considering treatment," says Howard Scher, chief of the Genitourinary Oncology Service at Memorial Sloan-Kettering Cancer Center, where the trial will take place.

Alzheimer's researcher demonstrates specific immune response to vaccine

Mon, 21 Sep 2009 16:29:55 -0400

September 21, 2009/Israel (ScienceDaily) - A researcher who is working on a vaccine for Alzheimer's disease (AD) has demonstrated that it is possible to test and measure specific immune responses in mice carrying human genes and to anticipate the immune response in Alzheimer's patients.

This continuing research at Ben-Gurion University of the Negev could one day lead to specific Alzheimer's vaccines that reduce plaque, neuronal damage and inflammation associated with the disease.

Amyloid beta-peptide accumulates in the brain of AD patients where it appears to promote neuronal damage. In the new article published in the Journal of Immunology, BGU researcher Dr. Alon Monsonego determined that introducing A-beta into the brain triggers a natural immune response which can be detected in humans.

Importantly, the research team showed that the specificity and magnitude of this body response to A-beta depends on certain key genes of the immune system, which are highly polymorphic in the population (this means that except for identical twins, almost each of us has a different combination of genes termed "HLA alleles").

New DNA-sequencing techniques to lead to thousands of human cancer gene discoveries.

Thu, 10 Sep 2009 16:28:30 -0400

September 10, 2009/New England Journal of Medicine (Editorial) - Cancer is believed to result from the acquisition of mutations and epigenetic changes that work collaboratively to induce the malignant growth of a cell. The field of cancer genomics has focused on defining the total complement of mutations in a cancer cell, with the belief that this information will drive personalized medicine through the development of improved diagnostic testing, prognostic and predictive markers, and ultimately new therapies directed against cancer-specific mutant proteins.

Although 350 cancer genes have been identified to date (www.sanger.ac.uk/genetics/CGP/Census), we now sit at the beginning of a revolution in cancer genomics resulting from the systematic application of highly parallel, single-molecule DNA-sequencing techniques to a large number of human cancers.1 The prediction is that many new cancer genes will be identified through these efforts, with calculations suggesting the existence of more than 2000 cancer genes.2

Continuing process in the study of cancer genome gives hope

Thu, 10 Sep 2009 09:48:40 -0400

September 10, 2009/New England Journal of Medicine (Editorial, James R. Downing, M.D.) - Cancer is believed to result from the acquisition of mutations and epigenetic changes that work collaboratively to induce the malignant growth of a cell. The field of cancer genomics has focused on defining the total complement of mutations in a cancer cell, with the belief that this information will drive personalized medicine through the development of improved diagnostic testing, prognostic and predictive markers, and ultimately new therapies directed against cancer-specific mutant proteins.

Although 350 cancer genes have been identified to date (www.sanger.ac.uk/genetics/CGP/Census), we now sit at the beginning of a revolution in cancer genomics resulting from the systematic application of highly parallel, single-molecule DNA-sequencing techniques to a large number of human cancers.1 The prediction is that many new cancer genes will be identified through these efforts, with calculations suggesting the existence of more than 2000 cancer genes.2

So why should we care about these findings? First, this study opens a clear window into the rapid advancements that are being made in cancer-genome sequencing. Although the DNA sequence of the first cancer genome was reported by this group less than 10 months ago,4 the present study achieved a deeper (and thus more accurate) coverage of the genome, despite a reduction in the number of sequencing runs by a factor of more than six. Moreover, improved computational algorithms have increased the accuracy of the identification of potential mutations, resulting in a decrease in the number of putative mutations that must be validated. As these improvements continue, the cost of obtaining the complete DNA sequence of a cancer cell will rapidly decrease, thus making it possible to acquire data from a larger number of cancers.

Interview with Dr. Muin Khoury, director National Office of Public Health Genomics (CDC)

Tue, 8 Sep 2009 16:25:20 -0400

September 8, 2009/Interview, NCI Cancer Bulletin - Last December, NIH and the CDC convened a workshop to discuss the science behind personal genomic tests. These tests, which include "genetic risk profiles" for cancer and other common diseases, are sold directly to consumers, who provide DNA through saliva or a cheek swab. At the workshop, representatives from academia, personal genomics companies, government, and policy groups discussed the scientific basis of the tests, what needs to happen before results can be used in the clinic, and recommendations for advancing the field.

Dr. Muin Khoury is the first author of a report on the workshop in the August Genetics in Medicine. He directs the National Office of Public Health Genomics at the CDC and is a senior consultant in public health genomics in NCI’s Division of Cancer Control and Population Sciences.

Some of the questions asked/answered in the interview:
- What are some examples of personal genomic tests?
What are your concerns about some of these products?
- How are risk profiles for cancer determined?
- What is known about the usefulness of these tests in the clinic?

University of Utah researchers find treatment help for Ewings sarcoma

Mon, 31 Aug 2009 10:10:45 -0400

August 31, 2009/PhysOrg.com (Utah) - Researchers at Huntsman Cancer Institute (HCI) at the University of Utah have shed new light on Ewing’s sarcoma, an often deadly bone cancer that typically afflicts children and young adults. Their research shows that patients with poor outcomes have tumors with high levels of a protein known as GSTM4, which may suppress the effects of chemotherapy. The research is published online today in the journal Oncogene.

"Doctors and researchers have long known that certain Ewing’s sarcoma patients respond to chemotherapy, but others don’t even though they have the same form of cancer," says HCI Investigator Stephen Lessnick, M.D., Ph.D. "Our research shows that GSTM4 is found in high levels among those patients where chemotherapy doesn’t seem to work. It’s found in low levels in patients where chemotherapy is having a more positive effect."

The research could lead to drugs that can suppress GSTM4 in certain patients. It also could lead to a screening test that could reveal which therapies will be most effective for patients. "GSTM4 doesn’t seem to suppress the benefits of all chemotherapy drugs, just certain ones. A GSTM4-based test could help to identify the best therapy for each individual patient," Lessnick says.

Family histories still important to successful clinical treatment

Thu, 27 Aug 2009 12:47:26 -0400

August 26, 2009/NIH Press Release - Though most Americans are familiar with completing a questionnaire about their family health history when visiting health care providers, an independent panel was convened by the National Institutes of Health this week to critically assess exactly what we know and what we need to learn about how this process relates to improving health. The conference focused on the use of family history in the primary care setting for common diseases such as diabetes, stroke, cancer, and heart disease. Earlier today, the panel released their findings in a statement that is available at http://consensus.nih.gov.

Cancer biomarker detection software tools earn silver NIH certification

Tue, 18 Aug 2009 10:19:31 -0400

August 18, 2009/Georgia Tech (EurekAlert) - The explosive growth of genomic and proteomic data has ushered in a new era of molecular medicine in which cancer detection, diagnosis and treatment are tailored to each individual's molecular profile. But this personalized medicine approach requires that researchers discover and link biomarkers -- such as genes or proteins -- to specific disease behaviors, such as the rate of tumor progression and different responses to treatments.

Two new software programs that help address that challenge have recently earned silver-level compatibility certification from the National Cancer Institute's cancer Biomedical Informatics Grid®, also known as caBIG®. The programs improve the process of identifying cancer biomarkers from gene expression data.

Developed by May Dongmei Wang and her team in the Wallace H. Coulter Department of Biomedical Engineering at Georgia Tech and Emory University, the programs -- caCORRECT and omniBioMarker -- remove noise and artifacts, and identify and validate biomarkers from microarray data. Funding to develop the programs was provided by the National Institutes of Health, the Georgia Cancer Coalition, Microsoft Research and Hewlett-Packard.

"Certification by caBIG means the tools can be easily used by everyone in the cancer community to improve approaches to cancer detection, diagnosis, treatment and prevention," said Wang, an associate professor in the Coulter Department and a Georgia Cancer Coalition Distinguished Cancer Scholar.

New NIH chief: Turn science into better care, fast

Mon, 17 Aug 2009 12:56:07 -0400

August 17, 2009/Washington (Associated Press) - An influential geneticist who wears his faith on his sleeve says that as the new director of the National Institutes of Health he won't inject his religious convictions into medical research while pushing cutting-edge science into better bedside care.

"The NIH director needs to focus on science," Dr. Francis Collins told The Associated Press on Monday. "I have no religious agenda for the NIH."

In taking the reins of the NIH, Collins - best known for unraveling the human genetic code - said he wants a practical focus for the nation's premier research agency, that new discoveries may even help save precious health care dollars. "We should be completely bold about pushing that agenda," Collins said - not just for U.S. health, but for global health, too.

"Here we are at a circumstance where I think our country is seeking maybe to redefine our image a bit in the world, from being the soldier to the world to being perhaps the doctor to the world. I'd like to see that happen," he said, in his first interview before greeting employees of the $30 billion agency.

Francis S. Collins, M.D., Ph.D., Sworn in as NIH Director

Mon, 17 Aug 2009 12:54:23 -0400

August 17, 2009/NIH Press Release - Francis S. Collins, M.D., Ph.D., today became the 16th director of the National Institutes of Health. He was nominated to lead the NIH, the nation's premiere biomedical research agency, by President Barack Obama on July 8, and was unanimously confirmed by the U.S. Senate on August 7.

In his July 8 nomination announcement, President Obama stated: "The National Institutes of Health stands as a model when it comes to science and research. My administration is committed to promoting scientific integrity and pioneering scientific research and I am confident that Dr. Francis Collins will lead the NIH to achieve these goals. Dr. Collins is one of the top scientists in the world, and his groundbreaking work has changed the very ways we consider our health and examine disease."

"As a scientist, physician, and passionate visionary, Dr. Collins will further NIH's ultimate mission to improve human health," said U.S. Health and Human Services Secretary Kathleen Sebelius. "He is an ideal choice to lead the NIH and I look forward to working closely with him."

New biomarker predicts response to hepatitis C treatment

Mon, 17 Aug 2009 14:20:56 -0400

August 16, 2009/Duke University (EurekAlert) - Researchers have identified the first genetic marker that predicts response to hepatitis C treatments, and a single letter of DNA code appears to make a huge difference. Duke University Medical Center scientists says the biomarker not only predicts who is most likely to respond to treatment and who isn't, but also may explain why there are such different rates of response among racial and ethnic groups, a phenomenon that has puzzled physicians for years.

"For geneticists, understanding response to treatment for hepatitis C infection has been almost like a Holy Grail," says David Goldstein, Ph.D., director of the Center for Human Genome Variation in Duke's Institute for Genome Sciences & Policy and the senior author of the study. "The side effects of hepatitis treatment can be brutal, and about half the time, the treatment fails to eradicate the virus. This discovery enables us to give patients valuable information that will help them and their doctors decide what is best for them. This is what personalized medicine is all about."

The discovery is reported online in the journal Nature.

Cost of decoding a genome lowered by Stanford engineer's invention

Mon, 10 Aug 2009 12:57:48 -0400

August 10, 2009/Palo Alto, CA (New York Times) - A Stanford engineer has invented a new technology for decoding DNA and used it to decode his own genome for less than $50,000.

The engineer, Stephen R. Quake, says the low cost "will democratize access to the fruits of the genome revolution" by enabling many labs and hospitals to decode whole human genomes.

Until now only companies or genome sequencing centers, equipped with large staffs and hundreds of machines, have been able to decipher the three billion units in a human genome.

BloodCenter develops new test to fight leukemia

Mon, 29 Jun 2009 15:33:47 -0400

June 29, 2009/Milwaukee, WI - A new test that can detect the genetic mutation linked to some types of acute myeloid leukemia is expected to help doctors tailor treatment for patients.

The BloodCenter of Wisconsin has developed the test, called CEBPA Mutation Analysis, to gauge the prognosis of those people already diagnosed with acute myeloid leukemia as well as identify the genetic mutation in those who may develop the inherited version of the blood cancer.

This is the first time the test will be available for clinical use, said Roger Klein, the center's medical director of molecular oncology. It is also the first test developed by a laboratory to specifically identify the inherited form of this leukemia.

Getting personal: New tests aid drug performance

Thu, 30 Jul 2009 12:41:26 -0400

July 30, 2009/Chicago, IL (Reuters) - Better diagnostic tests and pressure to lower healthcare costs may finally usher in the era of personalized medicine, in which patients get drugs tailored to their genetic makeup, a new report suggests.

Personalized medicine has been a researcher's dream since 2003 when scientists completed the Human Genome Project -- a decade-long race to sequence all of the DNA in people.

Drug companies and regulators are now looking for tests that increase the odds a high-cost biotechnology drug will work. They are using biomarkers -- such as specific proteins or genes -- to design better and cheaper clinical trials, lowering the cost of drug development.

Study shows a link between schizophrenia and genetic mutations

Mon, 20 Jul 2009 14:35:44 -0400

July 20, 2009/Los Angeles (PR Newswire) - A link between schizophrenia and ultra-rare variants in microRNA genes on the X-chromosome has been identified. Mutations in a subset of these regulatory RNA genes may strongly predispose to schizophrenia. The recently published study in PLoS ONE by the laboratories of Steve S. Sommer, MD, PhD and John J. Rossi, PhD reports the first association of microRNA dysfunction with schizophrenia. This breakthrough may have preventive or therapeutic implications.

A doctor's vision of the future of medicine (Op. ed.)

Sat, 27 Jun 2009 12:49:12 -0400

June 27, 2009/Newsweek - It's June 2018. Sally picks up a handheld device and holds it to her finger. With a tiny pinprick, it draws off a fraction of a droplet of blood, makes 2,000 different measurements and sends the data wirelessly to a distant computer for analysis. A few minutes later, Sally gets the results via e-mail, and a copy goes to her physician. All of Sally's organs are fine, and her physician advises her to do another home medical checkup in six months.

This is what the not-so-distant future of medicine will look like. Over the next two decades, medicine will change from its current reactive mode, in which doctors wait for people to get sick, to a mode that is far more preventive and rational. I like to call it P4 medicine - predictive, personalized, preventive and participatory. What's driving this change are powerful new measurement technologies and the so-called systems approach to medicine.

Personalized medicine successes tempered by significant challenges

Fri, 26 Jun 2009 12:20:56 -0400

June 26, 2009/Science Magazine News & Notes (AAAS) - The practice of personalized medicine still faces significant scientific and policy challenges, experts said at a recent colloquium co-organized by the Food and Drug Law Institute and AAAS.

Even the most successful forays into individualized diagnoses have had mixed results, the speakers agreed. And issues of regulation, physician training, and insurance have clouded at least the immediate future of the field.

While promising molecular discoveries and new diagnostic tests proliferate, said Dietrich Stephan, president of the Ignite Institute for Individualized Health, there has been "very little oversight on what's real and what's not real" in the realm of personalized medicine.

FDA's current ability to regulate genetic testing is problematic, colloqium attendees say

Mon, 22 Jun 2009 12:00:48 -0400

June 22, 2009/PRNewswire-USNewswire (Washington, D.C.) - The Food and Drug Administration's (FDA's) ability to regulate genetic testing is problematic, according to a recent polling of personalized medicine stakeholders.

Three-quarters of the attendees at a colloquium on personalized medicine, sponsored by the Food and Drug Law Institute (FDLI) and the American Association for the Advancement of Science (AAAS) responded "yes" to the audience question, "Do you have concerns about the ability of the FDA to regulate genetic testing?" However, 72 percent of the attendees also responded that FDA should be charged with ensuring standardization of testing protocols and interpretation across labs, clinical validity of testing and clinical usefulness of tests. And 71 percent agreed that FDA should regulate genetic testing, including laboratory-developed testing, more stringently. Genetic testing is regarded as a key component of personalized medicine.

'Personalized medicine' advances colon cancer treatment - Testing for K-RAS gene mutation helping pinpoint individual therapies

Fri, 19 Jun 2009 15:03:34 -0400

June 19, 2009/Plainview, NY (PRWEB) -- Colon cancer is the second leading cause of cancer deaths in the United States today. If you're one of the 150,000 cases of colon cancer diagnosed each year, a new test for K-RAS gene mutation will help your oncologist identify the medicines that will help you most. That's the recent conclusion of both the American Society for Clinical Oncology and the National Comprehensive Cancer Network. Olga Falkowski, MD, a board-certified pathologist and associate medical director of Acupath Laboratories, Inc., which conducts leading-edge molecular and immunohistochemical testing, agrees. "Until recently, treatment for colon cancer patients was determined by results of controlled clinical trials. Now, advances in the identification and understanding of molecular and biochemical events leading to the development of cancer and tumor growth, mean cancer treatments can be targeted to an individual's own biology."

An orchestra in need of a conductor - the need to develop a better alternative to "one size fits all" approach

Tue, 23 Jun 2009 14:57:58 -0400

June 19, 2009/CBS News Op. Ed (Michael Rugnetta).- Americans today are guinea pigs in a "one-size-fits-all" approach to medicine. Clinical trials designed to gauge if a treatment works for most people most of the time, ignore the influence of genes on health and wellness. Since one size does not fit all, patients are left to travel down a winding path of physician-led trial and error.

Different people don’t respond the same way to the same medical treatments. We have known this for quite some time, but we don’t have a cohesive system for organizing and using the information we have. Granted, there is still a lot we don’t know, especially when it comes to genetics. But we are learning fast. The fact is, personalized medicine will represent a marked improvement over the current system, a new kind of medicine where physicians, researchers and patients get the information they need in a form that they can understand and use, a place where the results of genetic and other kinds of tests are used to tailor drugs and treatments to individual patients.

New era of gene-based 'personalized medicine' dawning

Wed, 10 Jun 2009 14:12:21 -0400

June 10, 2009/Miami Herald - Six years ago, scientists announced the completion of the Human Genome Project, a historic effort to decipher each of the 3 billion letters in the genetic instruction book for our species. A single anonymous male from Buffalo, N.Y. - code name RP11 - provided the bulk of the DNA used for the project.

Now, many thousands more people are contributing DNA samples for a wide array of follow-on studies designed to turn the project's findings to practical use in health care, genetics and biological research.

Researchers and doctors have opened a new era of "personalized medicine'' that seeks to tailor therapies to patients based on their unique genetic makeups and medical histories.

Researchers find five genetic biomarkers to help fight diabetes

Mon, 15 Jun 2009 09:42:10 -0400

June 15, 2009/Science Daily (Phoenix) - Translational Genomics Research Institute (TGen) scientists have identified five genetic biomarkers that could help lead to improved treatments, with fewer side-effects, for patients with diabetes.

TGen Senior Investigator Dr. Johanna DiStefano presented the findings in New Orleans on June 6, 2009, at the 69th Scientific Sessions of the American Diabetes Association.

"We identified genetic variants that may predict how well someone will respond to the common anti-diabetes drug, Actos," said Dr. DiStefano, Director of TGen’s Diabetes, Cardiovascular & Metabolic Diseases Division. "The implications of these findings include determining which patients will best respond to the drug for the prevention or treatment of diabetes. In addition, this work lays the foundation for personalized medicine for patients with this disease."

Personalized medicine involves the rapid application of laboratory discoveries to therapies, depending on the individual genetic make-up of each patient.

Gene variation associated with resistance to chemotherapy drug in women with breast cancer

Tue, 9 Jun 2009 14:03:00 -0400

June 9, 2009/News-Medical.net - Researchers have found links between an individual's genetics and their response to treatment with chemotherapy. The findings, by researchers at the National Cancer Institute (NCI), part of the National Institutes of Health, and colleagues, show how a genetic variant, located in the SOD2 gene, may affect how a person responds to the chemotherapy drug cyclophosphamide. Cyclophosphamide is used in the treatment of breast and other cancers.

The SOD2 gene produces a key protein that protects cells from damage by molecules known as reactive oxygen species, or free radicals. Reactive oxygen species are produced by normal cellular processes and the action of some chemotherapy drugs. The findings represent the first preliminary evidence pointing toward a mechanism and a potential biomarker for cyclophosphamide resistance in breast cancer patients. The study appeared online June 9, 2009, in Clinical Cancer Research.

Making personalized care routine: Matching tumor's genetic information with treatment regimens

Thu, 4 Jun 2009 15:30:33 -0400

June 4, 2009/A small group of oncologists and pathologists from five medical centers gathered last fall to talk about the nuts and bolts of personalizing cancer care. On the table were a host of practical issues related to one big question: Can hospitals routinely use genetic and molecular information from tumors to match patients with the most appropriate drugs in an affordable and timely manner?

The answer to this question may not come for years. But some lessons about what works and what doesn’t could emerge much sooner. Massachusetts General Hospital and Memorial Sloan-Kettering Cancer Center (MSKCC) have begun to screen all lung tumors for genetic changes that could reveal whether a particular treatment is likely to work or should be avoided.

Lymphoma vaccine is an immune system "smart-bomb" in treating cancer

Thu, 4 Jun 2009 15:22:58 -0400

May 31, 2009/HealthDay News - In a new study, patients with follicular non-Hodgkin lymphoma who received a vaccine made from their own cancer cells went more than 44 months before relapsing, compared to only 30.6 months for those who didn't get the vaccine.

The vaccine trial was one of several studies from the new frontier of "personalized medicine" presented Sunday at the American Society of Clinical Oncology (ASCO) annual meeting, in Orlando, Fla.

The approach aims to hit cancer hard by tailoring treatments to the patient's own genetics or disease, among other factors. The lymphoma study differs from other vaccine trials in that the tool was patient-specific, study author Dr. Stephen Schuster, an associate professor at the University of Pennsylvania School of Medicine, explained at a Sunday news conference.

The findings could signal a whole new direction in how vaccines are used against cancer, experts said. "The novelty of the vaccines is that they were individualized to each patient, and that they were directed against a cancer-specific target," said Dr. Louis Weiner, director of Georgetown's Lombardi Comprehensive Cancer Center in Washington, D.C. "Many vaccines are directed against cancer-associated targets and always run the risk of damage to normal cells."

But the lymphoma vaccine is "almost like an immune-system 'smart bomb,'" Weiner noted. "It only goes after malignant cells, and that's very attractive."

Chinese scientists create pluripotent stem cells from pigs

Thu, 4 Jun 2009 14:32:00 -0400

June 3, 2009/Sciene Daily - Scientists have managed to induce cells from pigs to transform into pluripotent stem cells - cells that, like embryonic stem cells, are capable of developing into any type of cell in the body. It is the first time in the world that this has been achieved using somatic cells (cells that are not sperm or egg cells) from any animal with hooves (known as ungulates).

The implications of this achievement are far-reaching; the research could open the way to creating models for human genetic diseases, genetically engineering animals for organ transplants for humans, and for developing pigs that are resistant to diseases such as swine flu.

New test may detect, prevent organ rejection in transplant patients

Wed, 27 May 2009 10:38:55 -0400

The dream of personalized medicine is one step closer today with the launch of the second phase of Biomarkers in Transplantation, an innovative translational research initiative that will eventually allow doctors to identify which patients rejecting a transplanted organ with a simple blood test, aimed at eliminating the need for expensive, painful post-surgery biopsies and reducing the burden of transplantation costs on the health care system.

The initiative is funded by Genome British Columbia and the PROOF Centre of Excellence. The Biomarkers in Transplantation project is making use of advanced genomic, proteomic and computational tools to develop the test, which will diagnose organ rejection before and when it happens by allowing doctors to intervene much earlier and to personalize the patient's immunosuppressant therapy.

The future of personalized cancer treatment: An entirely new direction for RNAi delivery

Thu, 21 May 2009 21:30:43 -0400

May 17, 2009/EurekAlert (San Diego School of Medicine) - In technology that promises to one day allow drug delivery to be tailored to an individual patient and a particular cancer tumor, researchers at the University of California, San Diego School of Medicine, have developed an efficient system for delivering siRNA into primary cells. The work will be published in the May 17 in the advance on-line edition of Nature Biotechnology.

"RNAi has an unbelievable potential to manage cancer and treat it," said Steven Dowdy, PhD, Howard Hughes Medical Institute Investigator and professor of cellular and molecular medicine at UC San Diego School of Medicine. "While there's still a long way to go, we have successfully developed a technology that allows for siRNA drug delivery into the entire population of cells, both primary and tumor-causing, without being toxic to the cells."

Personal Genome Project opens doors to individualized health care and more

Fri, 15 May 2009 13:44:01 -0400

May 14, 2009/Northwestern University (IL) - Founder of the Personal Genome Project George Church spoke for students at the Northwestern Center for Genetic Medicine this week. In his talk, he outlined a not-so-distant vision of medical care tailored to your genetic makeup that might include everything from predicting disease risk to automatic delivery of safe meals at a restaurant.

Church launched the Personal Genome Project in 2005 in an attempt to build on the Human Genome Project. The professor of genetics at Harvard Medical School was interested in learning how our genes, environment and personal traits fit together. He saw the opportunity from quickly developing computer sequencing technology and was inspired by Wikipedia and social networking software to make the information open access.

"The more public it is, the more you really expect to gain from it," Church said. "Otherwise, it’s hard to discover things." The Personal Genome Project collects and decodes personal genetic information with the goal of identifying and treating diseases to which individuals might be susceptible. Church hopes that by making participants’ stem cell lines available (through hair samples they donate), researchers will be able to reprogram those cells for resistance to viruses, cancers or even aging. If the person were to succumb to a particular disease or needed a transplant, they could potentially rely on their own cells to create organs.

Information technology key to effective personalized patient care; hospital in Wisconsin takes full advantage of IT tools

Thu, 14 May 2009 10:51:58 -0400

May 13, 2009/Wisconsin Technology Network - Milwaukee-based Aurora Health Care highlighted two of its programs through which data is used to build a more personal health care system for patients at WTN Media’s seventh annual Digital Healthcare Conference 2009 last week.

One project, in part, is developing a "nursing knowledge repository" that turns a wealth of information into "actionable knowledge," which is embedded into an electronic information system. The Knowledge-Based Nursing Initiative involves researchers, computer engineers, nurses and information technology professionals in applying informatics to the work nurses perform.

Aurora this year also launched a robot-enabled biorepository to collect and store tissue samples. This ORBIT (Open-Source Robotic Biorepository and Informatics Technology) biobank will enable Aurora to collect large amounts of tissue from consenting patients for use in individual patient care, and also for research.

Diagnostic testing regulations overhaul necessary for effective personalized medical care

Tue, 5 May 2009 09:25:40 -0400

May 5 /PRNewswire-USNewswire (Washington, D.C.) -- To "get personalized medicine right," Health and Human Services (HHS) Secretary Sebelius will need to "create and implement a reasonable and responsible regulatory framework" for genetic tests and other advanced medical diagnostics, a diverse coalition of more than a hundred organizations representing genetic testing laboratories, patient advocates, investors, and health policy researchers said today.

Regulatory oversight of genetic testing needs to "strike the right balance between assuring patient safety and embracing policies that encourage the incorporation of rapidly advancing scientific methods and knowledge," the group wrote. Moreover, "it is essential that new regulatory oversight policies be clearly stated and publicly vetted before they are implemented," they said.

How to save a trillion dollars

Fri, 8 May 2009 09:18:35 -0400

May 4, 2009/Science Daily (MIT) - America needs a Human Genome Project for personalized health care. Companies that offer genetic testing and other health-risk analysis services will become a way to save billions in health care costs down the road.

Jackson, UNC pioneer new approach for predicting drug safety

Mon, 4 May 2009 17:12:02 -0400

May 4, 2009/The Jackson Laboratory - Adverse reactions to medications represent one of the leading causes of death in the United States. But there may be a way to predict who is most likely to suffer a toxic side effect to a drug before it's prescribed.

In a study published online May 4 in the journal Genome Research, researchers at The Jackson Laboratory in Bar Harbor, Maine, the University of North Carolina at Chapel Hill, and other institutions report a new approach to testing drugs for potential toxicity, one that could someday result in more people benefiting from existing drugs.

In effect, the study has created a system that enables researchers to gather interesting clues about what makes some people susceptible to drug toxicity and then explore them in mouse models. But the team believes perhaps the greatest impact this research could have is to improve the drug development process - to begin to understand what properties of a drug can make it toxic, and to identify the people most vulnerable to those toxicities.

A large part of the cost of developing a new drug that can go out for therapeutic use lies in the clinical trials, says Jackson Laboratory Senior Research Fellow Ken Paigen, Ph.D., a coauthor of the study, "because the vast majority of the drugs that enter clinical trials don't make it through. They either turn out to lack efficacy or they have side effects that are too serious to put the drug into the general population.

Hear Dr. Paigen discuss his findings in this informal, 6-minute video.

"Pharmacogenomics": Say that 10 times fast!

Wed, 29 Apr 2009 15:23:06 -0400

April 29, 2009/Wisconsin Technology Network - A Milwaukee-based health care organization has launched a technology-driven biobank at one of its hospitals that aims to link science, technology and patient care.

Aurora Health Care’s Open-Source Robotic Biorepository and Informatics Technology (or ORBIT) databank could help determine whether patients may benefit from a certain drug, and will enable scientists around the globe to share information for research and medical discovery. Aurora hopes to implement this biorepository program system wide within a year.

Turning hope into reality - Genomics research at the VA

Thu, 30 Apr 2009 12:34:09 -0400

April 29, 2009/PR Newswire (Washington, D.C.) - VA's Office of Research and Development is at the forefront of developing safer, more effective treatments based on new knowledge about the role of genes in health and disease. VA is superbly fitted to study genomics--the use of patients' individual genetic profiles to customize care--because of its genomics laboratory; large and diverse patient population; world-class investigators; an integrated network of basic research and clinical application; and an unequaled electronic medical record system that will in time incorporate genetic information.

Promising advances in cancer treatment, diagnosis, prevention seen in genetics research

Wed, 29 Apr 2009 09:00:02 -0400

April 22, 2009 / Health Daily News - New studies show that discoveries in genetic variations have helped clinicians diagnose potential future cases of ovarian cancer, chronic lymphocytic leukemia and other forms of cancer.

White paper: Federal government increasingly supporting individualized medicine approach

Thu, 5 Mar 2009 09:13:33 -0500

Ohio State University, 3/2/09 - As the Obama administration takes its first actions toward health care reform, there are signs that the federal government is increasingly invested in the importance of personalized health care in controlling health care costs and improving care outcomes - conclusions found in The Ohio State University Medical Center's recently released position paper, "Lessons for the future of personalized health care."

Scientists gather to chart "total reboot" for medicine

Thu, 5 Mar 2009 09:14:40 -0500

San Diego Union Tribune, 2/28/09 - A scientific conference in California was organized to discuss how genetic testing can be used to fuel a sea change in health care.

Seemingly every day scientists find new genetic links to disease. Yesterday, it was a gene linked to Lou Gehrig's disease, an ultimately deadly neurodegenerative disorder. But what do we do with all this information other than use it to help predict disease?

"Because of genomics, all of medicine is set for a total reboot," said Dr. Eric Topol, a cardiologist and geneticist at Scripps Health and the Scripps Research Institute, which are sponsoring the gathering. The result will be personalized care that is more effective and cost efficient, he said.

Genetic tests can be crystal ball to your heart’s future

Thu, 5 Mar 2009 09:17:35 -0500

CNN, 2/27/09 - Dr. Robert Superko, a metabolic and genetic specialist at St. Joseph's Hospital in Atlanta, Georgia, believes genetic or DNA testing is a more accurate way to find out which patients are predisposed to certain cardiac conditions.

Op-ed: Why one size doesn’t fit all in medicine

Mon, 23 Feb 2009 17:36:41 -0500

The Boston Globe, 2/23/09 - "Sex matters - especially in the doctor's office."

At every level of the human body there is a host of differences between the sexes. Only recently have we started to understand how these differences impact the prevention, diagnosis, and treatment of disease.

Gene test helps set accurate blood thinner dose

Wed, 18 Feb 2009 17:39:53 -0500

The Associated Press, 2/18/09 - Gene testing is part of a new approach to provide the correct dose of warfarin, a leading blood thinner to prevent clots that cause heart attacks and strokes.

Research intensifies towards personalized cancer treatment

Tue, 17 Feb 2009 17:44:31 -0500

RedOrbit, 2/17/09 - A wave of new research is shifting the direction of cancer treatment away from a one-size-fits-all approach towards more tailored therapies based on a tumor’s genetic makeup.

Personalized medicine using genetic testing still far off

Wed, 25 Feb 2009 09:08:46 -0500

MedPage Today, 2/6/09 - Even strong associations between gene variants and disease do not necessarily translate into useful clinical tools for evaluating individual risk, say researchers at the University of Pennsylvania School of Medicine.

Individualized approach to breast cancer treatment

Fri, 30 Jan 2009 13:08:53 -0500

ScienceDaily, 1/28/09 - Not all breast cancers are the same, and not all will have fatal consequences. But because clinicians find it difficult to accurately determine which tumors will metastasize, many patients do not receive the therapy that fits their disease.

Researchers at Tel Aviv University announced a new approach to breast cancer identification that could pave the way for treatments as individual as the patient herself.

Tel Aviv University has now refined breast cancer identification so that each course of treatment is as individual as the woman being treated. The new approach -- based on a combination of MRI and ultrasound -- is able to measure the metabolism rates of cancer cells. The approach helps determine at an earlier stage than ever before which cells are metastasizing, and how they should be treated.

The method, expected to start clinical trials in 2010, is currently being researched in Israel hospitals.

My genome, my self

Fri, 30 Jan 2009 14:25:08 -0500

The New York Times, 1/7/09 - Like the early days of the Internet, the dawn of personal genomics promises benefits and pitfalls that no one can foresee. It could usher in an era of personalized medicine, in which drug regimens are customized for a patient’s biochemistry rather than juggled through trial and error, and screening and prevention measures are aimed at those who are most at risk....

NIST calls personalized medicine a ‘critical, national need’

Fri, 30 Jan 2009 14:25:54 -0500

GenomeWeb News, 1/2/09 - The National Institute of Standards and Technology wants genomics, proteomics, and other biomedical researchers to submit ideas about needed advances in personalized medicine, and has asked for white papers detailing these pitches.

The NIST call is part of a new program asking for input on a number of subjects it has deemed "areas of critical national need," including personalized medicine, and the advice will be used to develop new competitions for funding under its Technology Innovation Program.

In the area of personalized medicine, NIST said in a listing in the Federal Register, researchers could describe needs for advances in genomics and proteomics that could be used to help doctors develop personalized drug treatments and dosages.