The future of medical genetics

Nearly three decades ago, I created a course for first year medical students called “Molecular Biology and Genetics.” Together with a clinical faculty, I co-directed the course for 22 years. 

There’s a piece over at Medpage about “niche careers” in medicine. Here’s one:

“7. Medical Genetics and Genomics

Medical geneticists diagnose and manage hereditary conditions, using genomic data to guide treatment and counsel patients on inherited disease risk. As whole-genome sequencing becomes cheaper and more accessible, the specialty is moving from rare disease management to mainstream medicine. Within a generation, a medical geneticist's input may be standard in the workup of cancer, cardiovascular disease, and beyond.”

Before I retired, I had a couple of discussions with physicians about whether medical genetics as a distinct field will cease to exist because genomics will make pedigrees and statistical genetics obsolete. I thought it would and I feel vindicated by current events. “Genetics” has now come to mean DNA sequence, and modern genetics/genomics is now just another diagnostic, as Medpage recognized.

I got my own genome sequenced at 30-50x coverage and got my variants annotated so I can check if I have any newly discovered risk factors. But for people who prefer the intermediation of a physician, personal genomics are becoming part of normal clinical care.

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