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March 19, 2008

The Genome Gets Personal—Almost

Author Affiliations

Author Affiliations: The National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

JAMA. 2008;299(11):1351-1352. doi:10.1001/jama.299.11.1351

It's the “Year of Perfect Vision,” 2020. Amy, age 21 years, visits with her physician and elects to have complete genome sequencing. At a follow-up visit, Amy chooses to learn of her genetic risk factors for heart disease, diabetes, breast cancer, and colon cancer. Amy's physician provides her with risk scores for those disorders, and with suggestions for lifestyle modifications. Specifically, Amy is alerted to her particularly high risk of developing type 2 diabetes, and her physician recommends a rigorous program of diet and exercise that had been shown in a controlled study to delay or prevent disease onset. The next year, Amy develops mild asthma and her physician selects an optimal therapy based on Amy's genetic profile. Five years later, Amy informs her physician that she and her husband are planning to start a family, and they request information regarding the risk of having a child affected by a serious genetic disease, based on their genome sequence data. She learns that both she and her husband are carriers for the recessive lethal childhood disorder spinal muscular atrophy, and they seek further counseling. When Amy turns 40, she begins colorectal cancer screening based on her higher-than-average risk factors, and at age 45 a precancerous polyp is detected in her colon and is successfully removed.

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