The Preventive Services Working Group, a group of volunteers made up of national experts, makes evidence-based recommendations for the primary care community.
Dr. Carol Mangione, a member of the task force, stated that most primary care providers took into account a patient's personal and family history of cancer when they decided to recommend or not to recommend a patient. genetic test. Most, however, are unlikely to use the standard questionnaires available to assess the risk of breast, ovarian, tubal, and peritome cancer in women, said Mangione, a primary physician. Recourse and Professor of Medicine and Public Health at the University of California at Los Angeles.
"What a pity," she told CNN in an email.
The process begins with a patient questionnaire
Mangione said the new project advocated a four-step process that began with a standardized screening tool to determine who to send to genetic counseling. Standardized tests examine all known cancer risk factors, especially if the family history includes several cases of breast cancer rather than just one, as well as ethnicity because some groups are more likely to have cancer. BRCA mutations.
"The rates of these BRCA1 and 2 mutations in the general US population are around 0.2% to 0.3%, while in some special groups, such as women of Ashkenazi origin, the Prevalence rates are closer to 2% – ten times more, "said Mangione.
However, the risk is a combination of many factors, she added, and the screening tool assigns each woman a score that helps her primary care doctor decide the opportunity to send her back for genetic counseling.
After the second step of counseling, the third recommended step is a discussion between a woman and her health care provider and the fourth step is the test itself.
The task force recommendation "against routine genetic counseling or testing in women with no family history, ethnicity or ancestry associated with an increased risk of these mutations "constitutes another" important element "of the new directions," said Mangione. "The potential disadvantages of testing in low-risk women outweigh the potential benefits."
A genetic test may return with "inconclusive results" or "uncertain significance," she noted. This could lead to anxiety, subsequent tests or even unnecessary, expensive or dangerous treatment.
Some women undergo commercial genetic testing themselves. The new recommendation does not address these home kits, said Mangione, mainly because there has not been enough scientific analysis of this type of test. "This can pose many problems if there is no rigorous prior consultation to ensure that the benefits of the test outweigh the potential disadvantages."
Another point of view: routine tests for all women
King, a professor of genome sciences and medical genetics at the University of Washington in Seattle, who did not participate in the formulation of the task force's recommendation, has very different advice for women and men. their providers.
"All women, regardless of their personal or family history of cancer, should be offered full sequencing of BRCA1 and BRCA2 as part of routine medical care at age 30 or at their current age if they are already older" , she said.
The only "meaningful" test is full sequencing, said King, who said some home test kits, but not all, are "incomplete". That said, home testing kits with full sequencing may be good options for women who want to know if they are carrying a BRCA1 or BRCA2 mutation, she said.
A complete medical genetic test must be performed only once in a woman's life because her inherited DNA does not change, and "of course, a woman can refuse the test or refuse it at the same time and change her. 39, notice later, "she said.
Today, the technology is adequate and the costs, including the extra cost of counseling, are "very low" and "well below most medical tests," she said.
"Primary care physicians do not need to become genomics specialists themselves," King said. "For women learning that they have damaging mutations in BRCA1 or BRCA2, front-line physicians can do what they do best: proper medical follow-up of their patients."
King explained that "half of women with BRCA1 and BRCA2 mutations are totally unaware that they carry such mutations.Two women are in the dark because they inherit the mutation of one" uninjured father ", so usually" there is no family history to trigger. worry, "she said.
In two decades, other "major" and "minor" mutations related to breast cancer have become known. At the same time, genetic testing has become more advanced and much less expensive.
Dr. Peter Beitsch, a cancer surgeon and co-founder of the TME Breast Care Network, a non-profit organization focused on improving the treatment of breast cancer patients, said the reality is that the tests "become ubiquitous and that such recommendations are out of date". As soon as they are published, they rely on "past research, gathered even further in the past, and this field is changing rapidly."
The new recommendations are also confusing, said Beitsch, who did not participate in the process. Before screening a woman for an increased risk of BRCA mutation, a physician must determine if she has an increased risk of having one, he says, and it is a "Catch- 22 ".
Nevertheless, it agrees with the working group that it is necessary to continue research in the field of genetic testing. "The tsunami of genetic testing is imminent, let's prepare all of us so that we can deal with it in the best possible way."
Mangione pointed out that the Task Force's new recommendation requires GPs to "assess all family and personal antecedents of women" and "rely on a review of all available high-quality evidence regarding benefits and benefits." disadvantages of the BRCA test ". She added that genetic counseling and testing for mutations in the BRCA gene "are recommended for some women because they are likely to be beneficial, but not for everyone" and concluded that women should be safe. talk to your doctor about "what assessments are right for them."
King estimates that "the sequencing of BRCA1 and BRCA2 will eventually be offered to all women, but it is unfortunate that their lives are lost in the meantime."
During the month-long comment period, the general public, as well as organizations and scientists, may provide criticism or support for the new draft recommendation of the working group.