Medical vs. “Recreational” Genomics: Drawing a Line in the Sand

What ELSI is new (article)This commentary in the Genomics Law Report’s ongoing series What ELSI is New? is contributed by Allie Janson, University Health Network/Mount Sinai Hospital’s Fred A. Litwin Family Centre in Genetic Medicine and DNA Exchange.

To me, one of the most interesting aspects of genomics is the potential for it to be both medical and recreational in nature. Direct-to-consumer companies have picked up on the recreational aspect of genomics and run with it—successfully marketing their service as a fun and interesting glimpse “inside oneself.” Understandably, the medical community has been, and will be, slower and more cautious about incorporating weak gene variant-disease associations into medical care. However, as the 1000$ genome comes barrelling towards hospital doors, physicians may no longer have a choice. Patients will present with a symptom and a genome print-out in hand, and demand answers.

In addition to the logistical issues of resources, education and time, there is a more theoretical question at hand: How do we distinguish between genomic information that belongs in the medical setting and genomic information that does not? I think this issue extends beyond peer-reviewed publications and FDA approval. Historically, a key step in any genetics evaluation has involved defining the purpose of a genetic test. In the genomic era of medicine, however, defining a specific purpose may prove challenging, as many gene variants will have associations with multiple medical traits, or with both medical and non-medical traits. Who has the responsibility to report this information to the patient? And how do we manage patients who are interested in learning about certain risks but not others?

Just as genomics has the potential to alter the way an individual perceives oneself, it also has the potential to challenge the fundamental principles of medical care. For now, “recreational genomics” companies have the benefit of (however controversially) being able to sell their service as a non-medical product. But the medical community has a much more complicated task at hand. A task, I imagine, that will require some creative thinking, consensus building and flexibility on the part of physicians and patients alike.