The number of articles and commentaries in both the lay and scientific press on the emergence of personalized medicine may be a bit ahead of the current reality. However, we also recognize the trend of individuals becoming increasingly engaged in the management of their health and healthcare, and the concept of personalized medicine is individually appealing. In no small way, the process of genetic counseling is a facilitator of what some are calling ‘participatory medicine.’ What may be underappreciated is the enormous amount of genomic data generated by these new tests and the interpretation for individualized assessment.
For example, the more we understand the specific roles of genes in our risks for cancer, for instance, the day may not be far off when an inventory of genes – and their mutations or variants – can become useful data for surveillance, prophylactic interventions, and therapies as needed. We are not at that point currently. While the number of genes showing relationships to cancer is growing, their meaning and contributions to creating disease are still being discovered and analyzed.
Consequently, we believe in a detailed family history first, testing second, and not the other way around. But just taking the family history is not enough. The next step of choosing testing that is clinically appropriate for a specific history is not formulaic. "Personalized" medicine also requires determining what’s relevant for the individual.
In the prenatal realm, the waters of whole genome (or exome, the known coding regions representing about 1.5% of the entire genome) are churning. We are seeing the value of using whole exome sequencing in those cases in which targeted gene or gene panels do not provide the molecular answers to the diagnostic questions. These technologies require huge amounts of data sorting, along with collective knowledge of genotype-phenotype connections, to correctly identify what may be an unexpected gene that explains the previously unexplained physiological and anatomical findings.
We don’t expect to see ‘anticipatory genome sequencing’ in the prenatal realm for some time yet. But we do anticipate that the coming year or so will bring us the capabilities to turn early ultrasound findings into a diagnostic pathway that will connect us, through targeted or whole exome sequencing, to a gene or genes. More precise prognostic information can thus be delivered to families, as well as providing a basis for accurate recurrence risk counseling.
We anticipate that IMG will be a leader on these new pathways of prenatal genetic testing.
Lastly, for the vast majority of patients that we see at IMG, we provide reassurance to the extent that our screening permits. This is a dimension of genetic counseling and screening that we think is often lost in the discussion of what role and place genetic counseling and genetic services plays in the arc of a pregnancy.
We certainly hope that the year that is ending has been a healthy one and that the work we’ve done together to serve your patients has been satisfying and responsive. There is every reason to believe that the coming year will be even better as we continue to expand our services and translate the advances in genetics to meaningful practice for you and your patients.
To a healthy and peaceful and insightful new year….
Morry Fiddler, PhD
Jeffrey Dungan, MD, FACOG, FACMG
Lee Shulman, MD, FACOG, FACMG