The clinical genomics train wreck is here

Two-and-a-half years ago I wrote a post about what I called a slow-motion train wreck. It lamented the entrenchment and resistance to change in the healthcare system and anticipated a piling up of useful new genetic/genomic therapies that don’t reach patients because the system can’t deliver them. I have noted elsewhere that lack of knowledge of genomics on the part of the public is an additional impediment. Finally, more than three years ago, I discussed a lack of knowledge on the part of physicians themselves, a significant problem given the advent of clinical genomics. It was a little disappointing to see data that quantified how poorly prepared physicians were to work with patients in the context of their genomic data, particularly eight years after the first human genome sequence was published.

So now we have the $1,000 human genome sequence (well, close), the U.K. is sequencing 100,000 patients, we have mouse avatars for cancer patients, Baylor University is achieving a 25% diagnostic success rate via exome sequences for patients with unknown diseases and on and on. Surely physicians are moving beyond the stethoscope, an outdated symbol of their profession anyway, and starting to come up to speed just a little bit by now?


The earlier post was based on a survey in which the physicians self-reported their knowledge. This time, it’s an academic review that looked at the literature on clinical genomics and identified oft-cited barriers and impediments to using the ever-more accessible genomic data. The conclusions are sobering, as a write-up in the online Pharmacogenomics Reporter documents:

“Moreover, the problem isn't only that primary care physicians lack genetics education, according to the study, but also that they don't have the basic skills—how to take a family history, apply the relevant treatment guidelines, or pick the right test—to deliver molecularly guided precision care.”

Now, it’s understandable that today’s physicians aren’t up to speed with modern genomics and even genetics, as it wasn’t in their curriculum in med school (it still isn’t in many medical schools, which boggles my mind) and they’re busy people. But why can’t they take a family history or apply current treatment guidelines? That’s clinical genetics 101 from 20 to 30 years ago, and it indicates that any education effort has to start on the ground floor.

The lack of such basic skills is a horrible failing in any context, and it’s particularly unfortunate now. It’s a train wreck all right. The only thing I’m not sure about now is the slow-motion part.


The only obvious way to start bridging the gap is to join more researchers, with their perspective of discovery and possibility, with more physicians, who live with clinical realities and limits (and patient psyches) every day. There are, of course, many clinical research collaborations already in place, but the gap remains wide. There need to be new, pragmatic ways of collaborating that improves how research contributes to real-world progress and medicine improves how it implements relevant discovery. (Drug development and the challenges faced by the pharmaceutical industry are another big part of the equation, of course, but that goes beyond the scope of this post.)

There are places where this is already happening, and they tend to be among the better-known names in healthcare. The Mayo Clinic, Dana Farber, Memorial Sloan Kettering, Johns Hopkins, Washington University in St. Louis are among the select few. It’s no surprise that Mayo is implementing innovative genomic medicine projects, Sloan Kettering oncologists helped teach IBM’s Watson cancer medicine, Washington University hosts a formidable genome institute, and so on.

And there’s a new kid on this block, which happens to be the place I work. With its educational mission and strong growing genomics-education program, The Jackson Laboratory is leading vital initiatives in STEM, undergraduate, graduate and physician genomics education. And its own new institute, The Jackson Laboratory for Genomic Medicine (JAX-GM), is extending its research and influence solidly into clinical areas as well. JAX-GM, located on the University of Connecticut Health Center campus, has formed collaborations with clinical partners both there and farther afield, including a recent agreement signed with Beth Israel Deaconess Medical Center in Boston.

There is no single-source or quick fix for the persistent dearth of knowledge about genomics and its implications for society and medicine. Nonetheless, The Jackson Laboratory’s intramural combination of basic biomedical research, translational research, clinical collaborations, resources and educational programs provides it with the tools to address the significant need and make a positive impact.