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Significant increase in number of women tested for BRCA gene, but many high-risk patients are still missing out

Discovery of the BRCA genetic mutation in the mid-90s represented a breakthrough in breast and ovarian most cancers prevention. About 5-10% of breast most cancers instances and 10-18% of ovarian most cancers instances could be attributed to 2 BRCA mutations. Testing for these genetic abnormalities has risen steadily over the previous decade. Previously, primarily women with a historical past of most cancers have been referred for genetic testing, but as consciousness has grown, extra low-risk women are present process BRCA testing. A brand new research in the American Journal of Preventive Medicine discovered that the proportion of women and not using a historical past of most cancers who underwent BRCA testing rose sharply from 24.three% in 2004 to 61.5% in 2014.

“It is estimated that 60%-80% of patients referred for genetic counseling and testing do not meet the referral requirement based on family history. To optimize the infrastructure and medical resources allocated for genetic testing, it is important to understand the current use of BRCA mutation testing in the U.S. health system,” commented lead investigator Fangjian Guo, MD, PhD, Assistant Professor, Department of Obstetrics and Gynecology, Center for Interdisciplinary Research in Women’s Health, the University of Texas Medical Branch.

BRCA testing is groundbreaking as a result of it may possibly permit for very early screening and prophylactic remedies that may save lives. In this research, investigators discovered that BRCA testing has shifted from primarily breast or ovarian most cancers patients and people at excessive danger to unaffected women. Although it has been beneficial by the U.S. Preventive Services Task Force (USPSTF) since 2005 for women with a household historical past of breast and/or ovarian most cancers, BRCA testing has been underutilized, particularly amongst at-risk populations. According to present knowledge, it’s estimated that solely 30% of breast most cancers survivors with the BRCA mutation have been recognized, and that number drops considerably to 10% for asymptomatic BRCA carriers.

In 2004, about 75% of women present process BRCA testing had a historical past of most cancers, but by 2014, that number had dropped to roughly 40% of the full. “Currently, many women who do get tested are actually low risk and do not have any personal or family history of breast or ovarian cancer. With low-cost genetic testing ($200 or $300, roughly the price of a three-dimensional mammogram) available, even more unaffected individuals and cancer patients may choose to receive these tests even when they have to pay out of pocket,” defined Dr. Guo.

Over the previous decade, widespread direct to shopper advertising for genetic exams has raised shoppers’ curiosity in BRCA testing, and elevated women’s self-referrals and referrals by their physicians to genetic providers even once they are at low danger for mutations. According to Dr. Guo, “This may be the driving force for the shift in the role of BRCA testing during [the] last decade. However, this may not necessarily translate into a great improvement in identifying mutation carriers, as many of the tests are performed in women who do not carry harmful BRCA mutations. Policymakers may need to take this into consideration to promote proper use of the test and maximize the detection of mutation carriers.”

Along with advertising and an elevated consciousness amongst patients and practitioners concerning the BRCA mutation, different mechanisms might have performed a task in boosting the number of women getting tested. The Affordable Care Act, for instance, mandates protection for preventive providers that are really helpful by USPSTF, together with BRCA testing. Also, the 2013 Supreme Court ruling towards Myriad Genetics and their patent declare over the gene loosened the grip on who might carry out BRCA testing, making it extra reasonably priced.

Despite the increase of BRCA testing, many high-risk women stay unidentified, whereas increasingly more low-risk women bear screening. “Next-generation sequencing technologies are dramatically reducing costs for genetic testing and sequencing. However, current guidelines and clinical practice fail to efficiently identify women who carry harmful BRCA mutations. Effective testing strategies need to be identified that promote equitable distribution and rational use of BRCA testing and maximize the detection of mutation carriers,” concluded Dr. Guo.

Article: Use of BRCA Mutation Test in the U.S., 2004-2014, Fangjian Guo, MD, PhD, Jacqueline M. Hirth, PhD, MPH, Yu-li Lin. MS, Gwyn Richardson, MD, Lyuba Levine, MD, MMSci, Abbey B. Berenson, MD, PhD, Yong-Fang Kuo, PhD, American Journal of Preventive Medicine, doi: 10.1016/j.amepre.2017.01.027, revealed on-line 22 March 2017.

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