Carefully consider the benefits and drawbacks of BRCA genetic screening
BRCA1 and BRCA2 genes are associated with breast cancer. A mutation in either gene leads to an increased risk of breast cancer and other cancers, including ovarian and pancreatic cancer. BRCA genetic screening is available for women to determine whether they have a BRCA gene mutation. While a BRCA genetic test can be useful in early diagnosis and treatment decisions, our Austin and Drippings Springs OBGYNs advise women to carefully consider the benefits and drawbacks of testing.
Who should get BRCA genetic screening?
With only 0.2 percent of people in the United States affected by a gene mutation, very few women benefit from BRCA screening. Our OBGYNs recommend that testing should be limited to women who have a risk factor for a BRCA gene mutation.
Family history of breast cancer before age 50
Family member with multiple breast cancers
Family member with both breast and ovarian cancer
First-degree relative (mom, sister, daughter) with ovarian cancer
Family member with male breast cancer
Multiple people on the same side of a family with melanoma or ovarian, prostate or pancreatic cancers.
Ashkenazi Jewish heritage
A woman with any of these risk factors should discuss her personal and family medical history with her OBGYN. The doctor can provide guidance on potential testing options, the medical implications of test results, and the impact on family members who share the same genes.
For women already diagnosed with breast cancer, BRCA genetic screening can provide insight on treatment options.
A BRCA test can be targeted to a woman’s medical history
There are many BRCA gene variants, and while screening is available for many of them, targeted screening is most appropriate. A woman’s medical history guides decisions about screening for specific variants, using either a blood or saliva sample.
BRCA genetic screening kits are now available directly to the consumer. However, these at-home tests screen for far fewer variants than are available through our doctors, and they are not targeted to each individual.
Takeaways from the BRCA genetic test results
A woman’s OBGYN will help interpret test results and determine whether the results indicate treatment or action. There are four potential screening results.
Positive (a gene mutation)
Negative (no gene mutation)
Variant of uncertain significance (a gene change that can’t be identified)
Inconclusive (insufficient data to make a decision)
Although all of these results provide valuable information, they cannot tell a woman whether she will or will not develop cancer. A genetic counselor can help women best use the information gained from their screenings.
Moving forward after a positive test result
A woman with a positive BRCA genetic test result may decide to proactively reduce her cancer risk. Potential steps include enhanced cancer screening, risk-reducing surgery and risk-reducing medications. If a woman has already been diagnosed with breast cancer, identifying a gene mutation can influence treatment decisions.
Our Austin and Dripping Springs OBGYNs are available to discuss BRCA risk factors and BRCA genetic screening. Contact Hill Country OB/GYN Associates for an appointment.