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What Do Expanded BRCA Testing Guidelines Mean for You?

Posted by Peggy J. Cottrell, MS, LCGC
Licensed and Board-certified Genetic Counselor
Patricia Lynch Cancer Center at Holy Name Medical Center on October 17, 2019

Peggy J. Cottrell, MS, LCGC, Licensed and Board-certified Genetic Counselor

It's important to get the word out that more people can benefit from genetic testing for BRCA gene mutations that put them at higher risk for breast, ovarian and some other cancers.

A federal task force this summer expanded guidelines for testing for the BRCA1 and BRCA2 gene mutations beyond those with a family history of cancers related to the mutation.

The US Preventative Services Task Force now recommends doctors do risk assessments and make referrals to genetic counselors for a larger group, including those who are cancer survivors or whose ancestry puts them at higher risk.

Up to 10% of breast cancer cases and 15% of ovarian cancer diagnoses are related to the BRCA mutations. These mutations appear with greater frequency among the Ashkenazi Jewish population.

Genetic testing has proven an important tool for early intervention in treating these hereditary cancers. The task force recommendations mean that a larger group of people are entitled to insurance coverage for preventative genetic testing.

Prevention and Intervention

Catching cancer earlier can save lives. Testing provides information that can help devise more vigilant and appropriate care, including:

  • Enhanced screening: A confirmed BRCA gene mutation might warrant insurance coverage for more screening methods. With breast cancer, for instance, an MRI might be ordered in addition to a mammogram and sonogram.
  • Prophylactic surgery: A risk-reduction strategy could include a mastectomy or removal of the ovaries and fallopian tubes.
  • Appropriate medication: Immunotherapies and other medications that target genes can provide for more effective treatment.

Knowledge is Power

A genetic test itself is relatively simple – usually a blood or saliva sample to capture DNA - but there are a host of practical, emotional and psychological issues that surround it. So it's best to consult with your doctor and a genetic counselor from the outset. A counselor can help choose the correct test and provide expertise and context in interpreting the results and relevant information about treatment options.

There is sometimes a reluctance to get tested; people fear their medical coverage will somehow be jeopardized by a positive test. But there are federal legal protections that guard against discrimination from insurance companies and employers based on genetic testing. If for some reason insurance doesn't cover genetic testing, a counselor can help in sorting through the good and affordable tests that are available.

Beyond insurance there can be emotional barriers in getting tested. A counselor can help you work through your concerns and the confusion around the process and provide pertinent information in following up on post-test options. The counselor can help guide you through decision-making in determining the best course of action for your health.

It's important to work closely with your doctor and genetic counselor throughout the process so you can understand what the results mean for you and your family so you can get optimal personalized care.

Find Out More

Holy Name Medical Center is in partnership with Sharsheret to assist with all aspects of genetic cancer testing. To make an appointment to speak one-to-one with a certified genetic counselor, please visit our websites:

https://sharsheret.org/resource/speak-with-our-genetic-counselor/ or