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June 2, 1989

Forty Years of Medical Genetics

JAMA. 1989;261(21):3155-3158. doi:10.1001/jama.1989.03420210103024

I AM often asked why I shifted from cardiology to medical genetics; I did not. In fact my activities in the two fields developed in parallel; it was a matter of phasing out cardiology and phasing in medical genetics. Indeed, my first published piece of clinical investigation was on a genetic topic, the syndrome of spots and polyps (1949), and my first book was Heritable Disorders of Connective Tissue (first published in 1956). In 1952 when I completed house-staff training there was no clinical discipline of medical genetics and no formal training program. So I trained in cardiology, which brought my attention to the Marfan syndrome because of the conspicuous cardiological complications.

In the early 1950s, for 5 years after completing the chief residency at Johns Hopkins in Baltimore, Md, I was a junior faculty person. I pursued the analysis of heart sounds and murmurs by a method called spectral