Angelina Jolie opted for double mastectomy after a genetic test.
Actress Angelina Jolie's mastectomy disclosure has shed new light on the emerging science of genetic diagnosis — a field poised to play an important role in screening breast cancer and other diseases, according to experts.
The Hollywood star wrote in the New York Times on Tuesday that she made the decision to have a double mastectomy after a genetic test revealed she faced high risk for developing breast and ovarian cancer due to a gene mutation called BRCA1. Her doctors estimated she had an 87 percent risk for breast cancer and a 50 percent risk for ovarian cancer.
According to Dr. Rebecca Sutphen, professor of genetics at the University of South Florida, genetic testing will identify risk factors that determine how often individual patients should be screened and scanned.
"Instead of saying every woman should get a mammogram once a year for the rest of your life, we're able to tailor your treatment based on your genetic makeup," she told DOTmed News.
Widespread access to genetic testing is a relatively recent phenomenon: Aetna was the first plan to propose recommendations of national guidelines for access to genetic testing in 2002, and other national health plans, such as United Healthcare, started covering genetics counseling around 2009.
In March, three federal agencies clarified that BRCA1/BRCA2 testing is covered under the Affordable Care Act — a significant step toward greater access, since the tests run $3,000 without insurance.
However, only 2 percent of women have a family history that makes them more likely to have the BRCA mutation. "This is one of the issues about public health — we're trying to raise awareness for people for whom this information is relevant. It's not for everyone but it's important for some," said Sutphen.
Red flags for genetic risk include being of Ashkenazi Jewish heritage, having relatives diagnosed with breast cancer at a young age, or having a relative with male breast cancer.
Double mastectomy isn't the only option for women with the BRCA mutation — some opt for regular mammogram screenings to improve early detection should it occur. "Certainly many women choose to have more intensive screening and surveillance and all of those are very legitimate options," said Sutphen.
