The Genome Gets Personal—Almost
- W. Gregory Feero, MD, PhD;
- Alan E. Guttmacher, MD;
- Francis S. Collins, MD, PhD
- Author Affiliations: The National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
Since this article does not have an abstract, we have provided the first 150 words of the full text.
- KEYWORDS:
- GENETIC RESEARCH
- GENOME, HUMAN
- HEALTH EDUCATION
- PATIENT EDUCATION AS TOPIC
- PATIENTS
- PREVENTIVE HEALTH SERVICES
- RISK FACTORS
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 …
