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The US Task Force on Preventive Services (USPSTF) has released its final statement of recommendation on risk assessment, genetic counseling and genetic testing for BRCAcancers related to women.
Potentially harmful mutations in breast cancer susceptibility genes 1 and 2 (BRCA1 / 2) are associated with an increased risk of breast, ovarian, fallopian and peritoneal cancer, says the Task Force.
In the general population, BRCA1 / 2 mutations occur in about 1,300 to 500 women and account for 5% to 10% of breast cancer cases and 15% of ovarian cancer cases.
There is not enough evidence to detect these mutations in all women, but some women are at increased risk, and these groups are highlighted by the task force.
Previously, the task force had identified women with a family history of breast cancer, ovaries, fallopian tubes or peritoneum.
The new recommendations add two additional groups: women with a history of breast, ovarian, fallopian, or peritoneal cancer, and women with breast cancer-related ancestry. BRCA1 / 2 genetic mutations (eg, Ashkenazi Jews).
The USPSTF recommends that primary care clinicians evaluate all these groups of women with the help of a brief, appropriate family risk assessment tool.
Women with a positive risk assessment tool should receive genetic counseling and, if appropriate, genetic testing (recommendation B).
The recommendations were published online on August 20 in JAMA.
"Some women may benefit from risk assessment, counseling and testing, but not all women need these services," said Task Force Chair Douglas K. Owens, in a statement.
"We suggest that women talk to their clinicians and decide together on the best steps to follow," said Owens, also a general internist and investigator at the Innovation Center for the Implementation of the Palo Alto Healthcare System. Veterans Affairs, and Professor of Medicine. at Stanford University, California.
"Because these tests are not without drawbacks, the test of BRCA Mutations in women without these risk factors are not recommended, "said Carol M. Mangione, Task Force member, MD, MSPH, in a statement.
The USPSTF also notes that ongoing research on risk assessment and testing of BRCA1 / 2 The mutations have been largely focused on short-term outcomes for highly selected women in referral centers, and further research is needed to determine the best strategies for population risk assessment and testing.
Landscape of complex genetic tests
In an accompanying editorial, Susan Domchek, MD, of the University of Pennsylvania, Pittsburgh, and Mark Robson, MD, of the Memorial Sloan Kettering Cancer Center, in New York, point out that the implementation of BRCA1 / 2 testing is difficult because recent changes in testing have added considerable complexity.
The multigene panel test (MGPT), with panels capable of screening 80 genes or more, has largely replaced BRCA1 / 2 test, they write. Although these large panels detect more pathogenic variants, they also detect more variants of uncertain significance with unclear associations of disease risk.
"The clinical utility of the blind use of MGPT has not been established and the genetic education of primary care clinicians has not kept pace with the Influx of new information or changes in the market for genetic testing, "they write.
The availability of tests directly to consumers adds to the complexity of genetic testing. Although the option of genetic testing outside of the medical model can broaden access to many people, the authors point out that "genetic testing, regardless of the results obtained, must be placed in the context of the overall health of an individual to have the most value ".
"With regard to the test criteria for BRCA1 / 2 As the pathogenic variants are broadened, it is important to recognize the increasing complexity of screening options and to increase the awareness of physicians and other health professionals to navigate the landscape, "they conclude. In addition, the use of tests in those most at risk needs to be improved, and persistent disparities in testing need to be resolved. "
The Agency for Health Research and Quality Health Care (AHRQ) supports the operations of the USPSTF. The disclosure forms for USPSTF members can be viewed here. All members of the USPSTF receive a refund of their travels and fees for their participation in USPSTF meetings. Domchek reported receiving personal fees from AstraZeneca, Clovis and Bristol-Myers Squibb. Robson indicated that he received grants, personal fees and non-financial support from AstraZeneca; non-financial support from Pfizer; McKesson's personal expenses; and support for research provided to her institution by Myriad Genetics (in-kind), Invitae (in-kind), AbbVie, Tesaro and Pfizer.
JAMA. 2019; 322: 652-665; 619-621. Full text, editorial
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