Christine is a medical actor helping to train the next generation of healthcare providers. She is also a real patient with a high familial risk for Lynch Syndrome. But that is not her only problem; her doctor did not know enough about this genetic disorder to spot the red flags in her family history. Nor did he know what to do with her aunt's genetic test results that identified a mutation associated with Lynch.
How did Christine discover her risk? Coincidently, she just happened to be portraying a patient with a similar familial risk at The Jackson Laboratory's Clinical and Continuing Education Cancer Genomics Workshop for primary care providers.
Unfortunately, her doctor's lack of genomic knowledge is not unique. Most medical schools spend little time teaching about genetics and genomics. It is no wonder that many healthcare professionals report that they feel unprepared and lack confidence talking about genomics with their patients. To complicate matters, healthcare professionals are faced with a crowded landscape of concerns and up until recently, genomics lacked the evidence necessary to make it useful in the clinic.
Today, new advances in personalized medicine have increased the number of tests that have clinically actionable results, especially in the treatment and diagnosis of cancer.
Intake forms rarely provide enough information to accurately determine risk. There are many different approaches to collecting family history information. Recording information in a pedigree can help you visualize patterns of disease more easily, which is one reason genetics experts prefer them. There are also online tools available that allow patients to input their family history information at home and print it out for you to review. Find a tool that helps you collect sufficient information and update it, as family history information changes over time.
Learn more about red flags, inheritance patterns or using family history for risk assessment. Consider consulting with a genetic expert when you have questions about the red flags in the family, or for further assessment.
Genetic counseling integrates risk assessment, education and counseling. In some cases, it includes the offer of genetic testing, decision-making support and interpretation of results. You should be able to prepare high-risk patients and families for what to expect, communicate relevant information to the genetics team, and follow up with the patient after genetic services have been provided. Those health professionals who choose to provide genetic counseling services to their clients should be able to perform all components of the process set out by the National Society of Genetic Counselors including:
Therese Ingram Nissen, senior instructional designer for clinical and continuing education at the Jackson Laboratory, has been designing and developing genomics education programs for healthcare providers for over ten years. Previously, she worked at the National Coalition for Health Professional Education in Genetics and the University of Colorado. Ingram Nissen recently coauthored a paper with her colleagues for Nature’s Genetics in Medicine Journal entitled What works in genomics education: outcomes of an evidenced-based instructional model for community-based physicians.