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(CNN) – Primary care providers must screen women for personal, familial and / or ethnic history of breast, ovarian, tubal or peritoneal cancers to decide who should undergo genetic counseling for BRCA1 and BRCA2 mutations, US Preventive Services Task Force advised on Tuesday. The mutations increase the cancer risk of a woman.
The Preventive Services Task Force, a volunteer panel of national experts, makes evidence-based recommendations for primary health care.
Task force member Dr. Carol Mangione said that most primary care providers consider the personal and family history of a patient's cancer when deciding whether to recommend a genetic test. However, most will probably not use the available standardized questionnaires to estimate a woman's risk for breast, ovarian, ovarian and peritoneal cancers, said Mangione, a general practitioner in primary care and a professor of medicine and public health. University of California, Los Angeles. .
Geneticist Mary-Claire King, who discovered the BRCA mutations and the risk of breast cancer in 1990, said she would like every woman to be offered full sequencing of BRCA1 and BRCA2 as part of routine medical care. She called the new recommendations "short-sighted" and "not based on the most recent data" and said that they "could cost lives".
"What a shame," she told CNN in an e-mail.
Using genetic tests to identify women who are at increased risk of breast cancer, women can take steps to reduce their risk, including improved or additional screening, chemo-prevention and risk-reducing operations such as the type that has been famously under the actress and special envoy from the UN. Angelina Jolie.
The process starts with a questionnaire for the patient
Mangione said the new design calls for a four-step process that starts with a standardized screening tool to determine who should be redirected to genetic counseling. The standardized tests review all known risk factors for cancer, including whether the family history includes multiple cases of breast cancer instead of just one, as well as ethnic background, as some groups are likely to carry BRCA mutations.
"The percentages of these BRCA1 and 2 mutations in the general American 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% – so 10 times higher, & # 39; Said Mangione.
However, risk is a combination of many factors, she added, and the screening tool gives each woman a score that helps her doctor decide whether to refer her for genetic counseling.
After the second step of counseling, the third recommended step is a discussion between a woman and her healthcare provider, and the fourth step is testing itself.
Another "important element" of the new guideline is the recommendation of the Task Force "against routine genetic counseling or testing in women who have no family history or ethnicity or ancestors associated with the increased risk of these mutations," Mangione said. "The potential drawbacks of testing in low-risk women outweigh the potential benefit."
A genetic test can come back with unclear results & # 39; or & # 39; uncertain significance & # 39 ;, she noted. This can lead to anxiety, later testing or even a treatment that can be unnecessary, expensive or unsafe.
Some women only receive commercial genetic tests. The new recommendation does not deal with these home kits, said Mangione, mainly because there has not been enough scientific analysis of this type of testing. "That can be accompanied by many problems if there is not careful counseling beforehand to ensure that the benefits of the test outweigh any possible disadvantages."
Another vision: routine testing for all women
King, a professor of genomic sciences and medical genetics at the University of Washington in Seattle, who was not involved in formulating the recommendation for the task force, has very different advice for women and their suppliers.
"All women, regardless of their personal or family history of cancer, should receive complete sequencing of BRCA1 and BRCA2 as part of routine medical care at around age 30 or at their current age if they are already older," she said.
The only "meaningful" test is a complete sequencing, King said, saying that some, not all, home test kits are "incomplete". That said, home testing kits that do offer complete sequencing can be good options for women who want to learn whether they have a mutation in BRCA1 or BRCA2, she said.
A complete medical genetic test only needs to be carried out once in the life of a woman, because her inherited DNA does not change and "of course a woman can refuse to test or refuse at once and change her mind later on", said they.
Nowadays the technology is adequate and the costs – including the extra costs for counseling – are "very low" and "much less than most medical tests," she said.
"Primary doctors do not have to become genomics specialists themselves," King said. "For women who learn that they have mutable mutations in BRCA1 or BRCA2, primary physicians can do what they do best: appropriate medical follow-up of their patients."
King stated that "half of the women with BRCA1 and BRCA2 mutations have no idea that they are carrying such mutations, there are so many women in the dark because they inherit the mutation of an" unaffected father ", so in general" there's no family history to trigger anxiety, "she said.
The original guidelines for the genetic testing of breast cancer patients were established about 20 years ago by the National Comprehensive Cancer Network, a non-profit organization of 28 cancer centers dedicated to improving patient care. At that time, genetic tests focused exclusively on BRCA1 and BRCA2 mutations and were both difficult and costly.
For more than two decades, additional "large" and "small" gene mutations related to breast cancer have become known. At the same time, genetic tests have become more sophisticated and much less expensive.
The guidelines of the Cancer Network for who should be tested and who should not have evolved, but not everyone is satisfied. For example, the American Society of Breast Surgeons has published its own new guidelines last week that recommend testing genes for all patients with breast cancer. The company based its new advice on the latest research, including a study that found that the existing guidelines lack as many patients with hereditary forms of cancer as they find.
Dr. Peter Beitsch, a cancer surgeon and co-founder of the TME Breast Care Network, a non-profit organization aimed at promoting the treatment of breast cancer patients, said that the reality is that genetic testing "becomes ubiquitous and recommendations such as these are outdated" as soon as they are published because they are based on "research from the past, which is collected in the past and this field is evolving rapidly".
The new recommendations are also confusing, said Beitsch, who was not involved in the process. Before a woman is screened for an increased risk of BRCA mutation, a physician must determine if she is at an increased risk of having a BRCA mutation, he said, and this is a "Catch-22."
Nevertheless, he agrees with the task force that more research is needed in the field of genetic testing. "The tsunami of genetic testing is coming, let us prepare ourselves so that we can deal with them in the best possible way."
Mangione stressed that the new Task Force recommendation instructs GPs in primary health care to "assess the family and personal history of women" and that it "is based on an assessment of all available high-quality evidence in relation to the advantages and disadvantages of BRCA tests. " She added that genetic counseling and testing for BRCA mutations is recommended for some women because they are likely to be beneficial, but they are not for everyone & # 39; and concluded that women had to talk to their doctors to find out what assessments are right for them. "
King believes that "the order for BRCA1 and BRCA2 will eventually be offered to all women, but it is a shame that the lives of women will be lost in the meantime."
During the months-long comment period, both the general public and organizations and scientists can criticize the new draft recommendation of the Task Force.