The Molecular Edge

Advancing Access To BRCA Testing

By Jon Cohen, MD

Molecular Diagnostics

As many as 230,000 women in the United States are diagnosed with breast cancer each year, according to the American Cancer Society. And as many as 40,000 women die of the disease annually. Many women survive the cancer, but often only after arduous treatment with radiation or chemotherapy and, for many, mastectomy of one or both breasts.

Advances in medical science have improved the odds of beating this cancer for countless millions of women. One of the most important of these innovations is in the area of genetic screening for mutations of the BRCA1 and BRCA2 genes.

BRCA genes are tumor suppressor genes, and mutations can stop them from repairing DNA to prevent the development of cancer. Of the up to 5% to 10% of female breast cancers due to inherited gene mutations, mutations in the BRCA1 and BRCA2 genes are the most commonly identified cause. BRCA1 and BRCA2 gene mutations also signify, in some women, heightened risk of ovarian and other cancers. Men also have elevated risk of breast and prostate cancer if they have one or more BRCA mutations, according to the National Cancer Institute.

Public Awareness

BRCA testing is one of the most important genetic tests available to help patients take proactive measures to reduce their risk of disease before it occurs. It is also well established in medical guidelines for women with heightened risk, such as those with an immediate family member diagnosed with breast cancer at age 45 or younger or women of Ashkenazi Jewish heritage. Armed with information on mutation status, patients can take informed, proactive steps to protect themselves, including more frequent screenings, chemoprevention or surgery, such as a prophylactic mastectomy.

Yet, despite its validity and broad clinical applications, public awareness and understanding of BRCA genetic testing is extremely low. An October 2013 study by Quest Diagnostics and Harris Interactive found that 72% of American women have never heard of BRCA testing, while another 8% have heard the term but don't know what it means. Even among those who are at least somewhat familiar with BRCA testing, only 17% say they have discussed it with their healthcare providers, according to the Quest/Harris survey.

This low level of awareness is startling, particularly given the substantial publicity generated in early 2013 by Angelina Jolie's prophylactic double mastectomy-following a positive BRCA result. It is also disturbing, considering that the patient advocacy group FORCE (Facing Our Risk of Cancer Empowered) suggests that as many as 90% of the roughly 2.3 million women in the U.S. who may be at increased risk for breast and ovarian cancer because of their family history are unaware of their BRCA mutation risk.

One possible reason public awareness of BRCA testing is so low may be due to the fact that until 2013, when the U.S. Supreme Court ruled against Myriad Genetics in a historic decision on gene patenting, patients and their doctors could access BRCA testing only from a single boutique lab provider. Now several diagnostic information providers have begun to offer quality BRCA testing, affording greater access to countless more women and men. The entrance of new providers is a change for the industry and should expand choice for patients who could benefit from testing.


In addition to lack of awareness, fears about cost may also drive low rates of screening for at-risk patients. According to the Quest/Harris survey, 73% of women who have not been tested say the potential cost would prevent them from getting a BRCA test. Even among those with a household income of $75,000 or more, nearly two-thirds (64%) expressed this concern.

The fact is no one should fail to be tested due to fears of cost. BRCA testing is broadly covered by health plans and available as a preventive service under the Affordable Care Act for patients who meet medical guidelines for heightened risk. Financial assistance programs provided by lab providers can also help women who qualify access testing services. How many at-risk women fail to get tested because they mistakenly believe they can't afford it?

Another factor that may explain the lack of public awareness of BRCA testing is the "newness" of genetics as an area of clinical medicine. The Quest/Harris survey showed that familiarity with the field of genetic counseling is low: Only 29% of women who have not been tested say they know what a genetic counselor is, and only 9% say they know how to get in touch with one.

Perhaps one bright light of information from the Quest/Harris survey is that concerns about privacy and use of data in medical research do not represent significant barriers to testing.

©Copyright 2014 Merion Matters. All rights reserved.

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