Making the Genetic Testing Decision
Two genes – BRCA1 and BRCA2 – are widely recognized for their link to breast and ovarian cancer, but there are many other genes that can play a part in cancer risk. “Genetic counseling can help women consider what testing options are best for them,” Zimmerman says, adding that some tests focus only on genes that are primarily linked with breast cancer while others are directed at different cancers.
“Genetic testing is a very personal choice,” Zimmerman says. “There are implications to consider.” For example, some worry they will feel guilt at having passed a genetic predisposition along to a family member. Others might have concerns regarding how genetic testing results could affect life, disability, and long-term care insurance. “These are considerations to talk through with a genetic counselor to decide if genetic testing makes sense,” Zimmerman says.
Options for Women at High Risk
Genetic testing can help clarify the level of cancer risk a woman faces. Depending on the gene, a woman might face up to a 60% risk of breast cancer in her lifetime if she tests positive. Knowing her risk, a woman might take steps such as:
- Adding more breast cancer screenings at younger ages; for example, choosing breast MRI as well as mammography
- Reducing her risk with preventive surgery to remove breast tissue or the ovaries
- Following other cancer risk-reduction or prevention strategies, depending on the cancer risk discovered due to a gene mutation
- Informing her family members so they can decide if they want to be tested to evaluate their own risk
While direct-to-consumer genetic testing for breast cancer is available, it analyzes only a select few mutations in the BRCA genes. Zimmerman notes that confirmatory clinical testing is recommended for any mutations identified via direct-to-consumer assessment. “There are thousands of mutations in the BRCA genes and a number of other breast cancer risk genes. Direct-to-consumer testing is getting only a small part of the picture,” he says.
A genetic counselor can help women navigate genetic testing options to better understand their cancer risks and how to best manage these risks.