By Will Boggs MD
(Reuters Health) - Mutations in the BRCA1 and BRCA2 genesare associated with increased risks for breast, ovarian, andother cancers, but only certain women stand to benefit fromgenetic testing, according to updated recommendations from theU.S. Preventive Services Task Force (USPSTF).
"Whether or not the harms of risk assessment, counseling,testing, and interventions outweigh the benefits depends on awoman's individual risk profile and family history," Dr. DouglasK. Owens, Task Force member from Stanford University inCalifornia, told Reuters Health by email.
"That is why it is important for women who are concernedabout their risk of having a BRCA mutation to discuss benefitsand harms with their doctor," he added.
Owens and his colleagues on the government-backed USPSTFreviewed all the available evidence before updating the panel'srecommendations on risk assessment, genetic counseling, andgenetic testing for BRCA-related cancer. The updated documentsappear in the Journal of the American Medical Association.
"Each step in the process can be complex," Owen said.
As a first step, the USPSTF says, women with a personal orfamily history of breast, ovarian, fallopian tube, or peritoneal(the lining of the abdominal cavity) cancer and women whoseethnic background is associated with an increased risk of BRCAmutations should be evaluated with one of several riskassessment tools. These tools accurately assess the likelihoodof carrying a harmful mutation in one of these genes.
If the risk assessment suggests an increased likelihood ofcarrying a harmful BRCA mutation, the woman should have geneticcounseling, and possibly, genetic testing.
"Sometimes it makes sense for a woman to only get anassessment and undergo counseling, but not genetic testing,"Owen said. "It is also important to note that test results arecomplex and can't always definitively tell a woman if she has apotentially harmful mutation that will lead to cancer."
The USPSTF recommends genetic testing if a woman's historysuggests a potential for inherited cancer risk, but even then,only if the test results will help her make decisions aboutfurther evaluation and treatment.
Possible interventions could include more intensivescreening for BRCA-related cancers, medications that mightreduce the risk for developing these cancers, and surgeries thatfurther reduce risk (by removing breasts, ovaries and fallopiantubes).
Dr. Susan Domchek from Basser Center for BRCA at theUniversity of Pennsylvania in Philadelphia, who co-authored aneditorial published with the recommendation, told Reuters Healthby email, "Many individuals at high risk of having a BRCA1/2mutation are not tested. Oncologists, primary care doctors,gynecologists, other health care providers, and patients shouldall be aware of the options for genetic testing. At the sametime, we should all strive to reduce barriers and ensureequitable access to genetic testing."
Dr. Larissa A. Korde from National Cancer Institute,Rockville, Maryland, who co-authored another related editorial,told Reuters Health, also by email, "I think awareness of acancer family history is the key for both patients andphysicians," Dr. Korde said. "Knowing which cancers areassociated with BRCA mutation, in both men and women, will leadto the successful identification of those who should be tested."
SOURCE: http://bit.ly/2KJUlg6, http://bit.ly/31W1VtX,http://bit.ly/31SYKTw, http://bit.ly/31O2c1S,http://bit.ly/31OkEYe, and http://bit.ly/31SYQKS JAMA, onlineAugust 20, 2019.