Genetics and Women's Health

Genes may play a role in the risk of many of the most common causes of morbidity and mortality among women, including cancer, cardiovascular disease, and diabetes. The most reliable way to identify those at risk for an inherited susceptibility to chronic disease is through their family health histories.

Breast cancer affects 1 in 8 women over their lifetime, and colon cancer affects 1 in 15 women. Approximately 10 percent of breast, ovarian, and colon cancer cases are due to inherited mutations in specific genes that can be passed down from either parent (mother or father) and greatly increase the risk of cancer. The genetics of all cancer is complex, and even those individuals in whom single gene mutations cannot be identified may still have an elevated risk for cancer, emphasizing the importance of knowing one’s family history.

Coronary heart disease is the leading cause of death for women in the United States. Although there are significant modifiable lifestyle risk factors such as smoking, hypertension, and obesity, genetics is important in identifying women and men at risk for heart disease and other chronic conditions. Having a male first degree relative (parent or sibling) who had a heart attack or stroke before age 65 or a female relative who had a heart attack before age 55 is a risk factor for heart disease.

Type 2 diabetes is also a major cause of morbidity in women. Although obesity and reduced physical activity are the most important risk factors for type 2 diabetes, the greater the number of relatives affected with diabetes the higher the risk to family members.

Genetic testing is one way to identify the subset of high-risk women who have inherited a susceptibility to cancer. In 2005, 1.5 percent of women reported having a genetic test for cancer risk. Among these women, breast cancer risk was most commonly tested (52.9 percent), followed by ovarian cancer risk (38.0 percent) and colon or rectal cancer risk (18.5 percent). Additionally, nearly 24 percent had a genetic test for some other cancer risk. [Respondents could report more than one type of genetic test.]

Genetic Tests for Cancer Risk Among Women Aged 18 and Older Who Received Any Genetic Test, by Cancer Site, 2005 [D]

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