The era of Personalized medicine using genome technologies is upon us. Is it all just hype or is there really hope that these technologies will help us usher in the promise of true personalized medicine?
Dr. Charles Epstein is a great guy and one of my mentors during my training program in Medical Genetics at UCSF . (Incidentally, he was originally trained as an internist before leading the field of Medical Genetics). He gave a wonderful summary of the dilemmas facing the future field of medical genetics during his presidential address to the American College of Medical Genetics in Orlando, Florida in 2004. It is summarized in Genetics in Medicine – July/August 2004 issue .
He channeled Yogi Berra who said, “It’s tough to make predictions, especially about the future. . . The future ain’t what it used to be.”
Traditionally, medical genetics was a clinical fellowship after a residency in pediatrics. It dealt with congenital abnormalities ( dysmorphology ), birth defects and inborn errors of metabolism . Charlie Epstein saw how our field needed to grow and evolve to confront the emerging field on personalized medicine and risk assessment. Subsequently, he was instrumental in changing medical genetics from a fellowship to what is now technically a separate residency . He recognized the growing need of the field to “.. skate where the puck is going to be, not where it has been.”
On the dilemma on who should lead this emerging field of personalized medicine, he said,
“… how do we strike the balance? If genetic testing and risk assessment develop in the future as I expect that they will, primary care physicians and specialists will undoubtedly be involved. In fact, they will have to be, as they, especially the primary care providers, will be the ones caring on a long-term basis for those who are tested. However, the primary care physicians and specialists will need to have people to turn to, and I think that needs to be us, the genetic professionals—not just as educators, but as active participants in the process. We are the ones who know genetics and how testing is done. We are comfortable with family histories and probabilities and with counseling and decision-making. We are already doing genetic testing and risk assessment. “
He argues that “just as infectious disease knowledge and tools by primary care providers did not eliminate, but instead elevated the importance of the infectious disease specialist.”
Myself, I am obviously hopefully optimistic that with the right guides we will find our way.