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Genomics and personalized medicine

Yale Medicine Magazine, 2008 - Spring


As the sequencing of the human genome approaches its fifth anniversary, Francis S. Collins, M.D., Ph.D. ’74, FW ’84, asked how it will affect the practice of medicine. Will it be used to save lives? Or will the information be used to deny people jobs or health insurance? In a talk on March 27 at The Anlyan Center, Collins set out two hypothetical scenarios to illustrate how genomics might be used or ignored.

Collins, director of the National Human Genome Research Institute at the National Institutes of Health, outlined his first scenario: in 2015, a patient he calls Betty chooses not to have her genome sequenced because she fears genetic discrimination. She never learns about her family history of heart disease and her doctor thinks genetics is irrelevant to clinical practice. Betty gains weight and develops high blood pressure, but side effects keep her from taking her medication. Ten years later, Betty dies from a heart attack.

In Collins’s second scenario, Betty receives all the benefits of genomics, including individualized treatment, and lives into the 22nd century. Collins implored his audience to make a commitment to personalized medicine and “SAVE BETTY!”

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