WHAT IS THE ROLE OF THE PHYSICIAN?
Genome sequencing and interpretation is well beyond the expertise of most physicians, and many physicians are unlikely to prescribe what they do not understand. In the future, physicians will need to receive some general training in this area to understand the basics. Moreover, they are likely to encounter people who have had their genomes sequenced, and they should know how to respond if confronted with a question from them. Even if a physician has such expertise, he or she is unlikely to have the time to give any meaningful interpretation of genome sequence information in a typical medical exam visit.
Realistically, as with any specialty area, such as imaging, an expert will need to review the results and formulate a report. Ideally, the expert would have information about the family history and medical condition of the subject, and work with a physician to provide the best possible interpretation and feedback. Importantly, they can discuss the follow-up tests that might be pursued, and additional specialists who might be consulted based on the genomic results. For example, if a new variant is identified that could be suggestive of a hypertrophic cardiomyopathy defect, this can be pursued further with a cardiologist. In this setting the physician helps coordinate rather than dictate the health care of the subject; this happens already, but will become even more prevalent with the mainstream use of genomic information and the resulting early detection of disease risks.
It is likely that in the future reports will become very structured, and physicians will treat the results like any other medical test. One difference with genomic reports of a typical healthy person is that there tends to be a broad range of findings (drug sensitivities, high-risk variants, carrier variants) and with proper training physicians may be able handle much of this. This will likely require a considerable alteration in the way we teach and train physicians. It is also very likely that in the future all genetic counselors will receive intensive training in genomics and become “genome” counselors.