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Widen breast cancer gene screening, says US taskforce

27 August 2019
Appeared in BioNews 1012

An influential health group in the USA has concluded that more women could benefit from wider genetic screening for hereditary breast or ovarian cancer.

The updated recommendations by the US Preventative Task Force (USPSTF), were published in JAMA. Private insurers in the USA usually follow advice given by USPSTF on which preventative care measures they will cover.

The BRCA1 and BRCA2 mutations mean that cells in the body are not as good at repairing DNA damage, thereby greatly increasing the risk of breast, ovarian, tubal and peritoneal cancers in women carrying the mutation.

'Many individuals at high risk of having a BRCA1/2 mutation are not tested,' Dr Susan Domchek at the University of Pennsylvania in Philadelphia, told Reuters Health. 'Oncologists, primary care doctors, gynecologists, other health care providers, and patients should all be aware of the options for genetic testing.'

Around 5-10 percent of all breast cancer cases and around 15 percent of ovarian cancers are caused by a mutation in one of the BRCA genes, often affecting several generations of a family. Genetic testing can reveal this risk and empower patients and doctors to prepare and discuss potential preventative measures, such as a mastectomy.

USPSTF's 2013 recommendations already called for doctors to screen women who have relatives with BRCA-related cancer and to refer women who might benefit from gene testing to genetic counselling to discuss the results.

The new guidelines suggest that doctors widen their net and include women who have previously been treated for breast or other BRCA-related cancers and are now cancer-free. Many women who suffered from breast or similar cancers a while ago, might not have had the option of undergoing genetic testing at the time, and screening them now might help to avoid future recurrence of the cancer. Other groups recommended to be included in the screening are women with an ancestry prone to BRCA mutations, such as Ashkenazi Jewish women.

Cancer groups have welcomed the change in recommendations and hope that newly diagnosed patients will be able to receive genetic screening as well in the future, as it can inform treatment decisions, can be life-saving and alert relatives of the patient about their potential risk.

The guidance suggests that women who are deemed at risk be offered genetic counselling. 'Whether or not the harms of risk assessment, counselling, testing, and interventions outweigh the benefits depends on a woman's individual risk profile and family history,' Dr Douglas Owens, a taskforce member from Stanford University in California, told Reuters Health.

'Sometimes it makes sense for a woman to only get an assessment and undergo counselling, but not genetic testing,' Dr Owens said. 'It is also important to note that test results are complex and can't always definitively tell a woman if she has a potentially harmful mutation that will lead to cancer.'

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