Testing for Breast Cancer Gene Mutations Underutilized in Eligible US Women


Women who carry the BRCA1 and BRCA2 gene mutations are at an increased risk of breast and ovarian cancer, yet many women are unaware of their mutation status.

Tests for BRCA1 and BRCA2 gene mutations are underused among US women who are eligible to receive them, meaning that many women are unaware of their heightened cancer risk, according to a new JAMA study.

Women who carry the BRCA mutation are at an increased risk of developing breast and ovarian cancer. Testing for these mutations can help women identify whether high-risk screenings, such as annual mammograms and breast MRIs, are necessary.

For the study, the researchers analyzed records of women participating in the Southern Community Cohort Study, which includes 84,513 participants recruited in 2002 to 2009 from community health centers across 12 states in the southeastern United States. Half of the cohort was covered by Medicare.

Of the 49,642 participants, 2002 were diagnosed with breast cancer between 2000 and 2014 and 751 women were covered by Medicare Part B. At the time of diagnosis, women ranged in age from 37 to 87 and half were 64 years or older. The researchers filtered out women who met the eligibility of Medicare coverage for the gene mutation testing, which is based on a combination of personal and familial history of cancer.

Of the women who were eligible between 2000 and 2004, none received testing for BRCA1 and BRCA2, according to the researchers.

“Women who carry one of these mutations but don’t know their mutation status are not able to take advantage of preventive or early detection interventions that we have available, so they miss out on the opportunity to reduce their risk for these cancers and potentially reduce their overall mortality,” lead author Amy Gross, PhD, an epidemiologist with the Vanderbilt Institute for Clinical Translational Research, said in a press release. “They are also not able to inform family members who might be affected.”

Although the numbers improved over time, testing rates remained lower than expected, according to the study. Five percent of eligible women got tested in the 2005 to 2009 period and 15.8% received testing from 2010 to 2014. From 2000 to 2014, only 8% of disabled or older women who qualified for Medicare and met the criteria for testing received it.

“This testing rate is lower than what I have seen reported in terms of any other study with the same time and eligibility constraints,” Dr Gross said.

She added that the low testing rate could be due to several factors, including lack of patient interest and physician recommendations. To improve these rates, health care providers should be proactive in identifying when testing is needed, according to the study authors.


Gross AL, Blot W, Visvanathan K. BRCA1 and BRCA2 Testing in Medical Underserved Medicare Beneficiaries With Breast or Ovarian Cancer. JAMA. 2018. Doi: 10.1001/jama.2018.8258

Medically underserved women in the Southeast rarely receive BRCA tests [news releases]. VUMC’s website. http://news.vumc.org/2018/08/14/medically-underserved-women-in-the-southeast-rarely-receive-brca-tests/. Accessed August 15, 2018.

Related Videos
biosimilar word or concept represented by wooden letter tiles on a wooden table with glasses and a book | Image Credit: lexiconimages - stock.adobe.com
Image credit: alicja neumiler | stock.adobe.com
Laboratory test tubes and solution with stethoscope background | Image Credit: Shutter2U - stock.adobe.com
Pharmacist preparing high-risk chemotherapy
Image Credit: © jarun011 - stock.adobe.com
MP Studio - stock.adobe.com
Image credit: David A Litman | stock.adobe.com
© 2024 MJH Life Sciences

All rights reserved.