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F.D.A. Approves First Home Testing for 3 Breast Cancer Mutations, With Caveats

Interesting news: The FDA has approved 23andMe, a genetic testing service, to offer genetic testing for BRCA mutations associated with breast cancer in Ashkenazi Jews. However, there are some concerns- this service will only test for 3 possible mutations, but there are at least 1,000 more that won't be included. What do you think? Article below:

"The Food and Drug Administration for the first time has authorized a genetic testing company to offer screenings for three breast cancer mutations common in Ashkenazi Jews, giving consumers the ability to initiate testing at home and see results without talking to a doctor or counselor.

The agency’s action on Tuesday permits the testing company, 23andMe, to report results as part of its $199 Health and Ancestry product, which uses DNA from saliva samples to inform customers about their families’ countries of origin, along with information on genetic health risks.

There will be no extra charge for the additional reports, which should be available in a few weeks to customers who actively opt in and request to see them, company officials said.

Women who carry one of the three BRCA1 and BRCA2 gene mutations are at substantially increased risk for developing breast and ovarian cancer, and men who carry one are at higher risk for breast cancer and may be at higher risk for prostate cancer as well.

But testing negative for the three mutations does not mean someone is in the clear, as there are over a thousand BRCA mutations associated with increased cancer risk. Some critics say that comprehensive genetic testing — an exhaustive analysis to detect all mutations associated with an increase in breast cancer risk — is preferable.

Physicians, geneticists and policymakers have long been concerned that the enthusiasm over personalized medical information and genetic testing may place consumers who misunderstand or misinterpret results at risk of jeopardizing their health.

Even for Jews of Ashkenazi descent, whose families originated in Eastern and Central Europe and who are most likely to test positive for the three mutations, testing negative is no panacea, as they may carry other mutations that increase cancer risk.

“The test provides information to certain individuals who may be at increased breast, ovarian or prostate cancer risk and who might not otherwise get genetic screening, and is a step forward in the availability of direct-to-consumer genetic tests. But it has a lot of caveats,” said Donald St. Pierre, acting director of the Office of In Vitro Diagnostics and Radiological Health in the F.D.A.’s Center for Devices and Radiological Health.

“The test should not be used as a substitute for seeing your doctor for cancer screenings or counseling on genetic and lifestyle factors that increase or decrease cancer risk,” he added.

This is not the first time that 23andMe will be offering reports on the three BRCA1/BRCA2 mutations. The company started reporting to customers on these mutations in 2010 without F.D.A. approval, but stopped providing all health data in 2013 after receiving warnings from the agency, which requested information to prove the test was accurate and provided consistent reproducible results.

The agency has also insisted on special controls, including a warning statement explaining the test’s limitations in lay terms stating that a negative test does not rule out other genetic mutations associated with cancer risk, and stipulating that the tests should not be used to determine medical treatment.

The warnings also state that the tests should not substitute for visiting a doctor, and that tests confirming the results must be carried out before making medical decisions on treatment, such as anti-hormone therapies, or on prophylactic options like mastectomy or removal of the ovaries.

The warning also cautions that people may experience anxiety when undergoing genetic testing, and recommends that they discuss any concerns with their doctor.

“My preferred approach would be that this is done in the context of having somebody help you interpret that information, and talk to you about what it means in real time,” said Dr. Susan Domchek, a medical oncologist and expert on breast cancer genetics and prevention at Perelman School of Medicine at the University of Pennsylvania.

The chief executive of 23andMe, Anne Wojcicki, said there was high consumer demand for the test.

“One of the important things we learned is that a lot of individuals did not even think that they were potential carriers and did not know they had any Jewish ancestry or family history,” she said. “We feel passionately that in some cases this saved their lives.”

Full article here: nytimes.com/2018/03/06/well...

3 Replies

Hi Joann,

I strongly agree with the concerns expressed in the article. I rank the BRCA test along with home drug and paternity tests. An incorrect result can be disastrous. On the other hand, I feel colon cancer testing (performed at home and submitted for evaluation) is beneficial for those at low to moderate risk for the disease.

It's important for women who undergo testing (regardless of the results) to make family members aware of their own heightened risk for breast and/or prostate cancer. All breast cancer survivors should encourage self-examination and regular screenings for their loved ones.

Call me paranoid, but in some cases I encourage members of our support group who are financially able to consider paying "out of pocket" for their testing and physician's services. My concern is that once the insurance companies get hold of some information it might be used against the person in the future. I have nightmare visions of policies being rated or denied for "pre-existing" conditions.

Be well, and keep up the great work you do!



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Hi RonnieDale! It'll certainly be interesting to see where this goes. Thanks for your input!


Greetings: Sister Warrors/Over-comers. This is Just a comment on the article about the Braca

Testing. If the at home test will only test for 3 out of 1000 Braca mutations in specific people

of Jewish descent, I would not have that at home test done. I have not had the Braca test

done, but , I have considered having the it done by my doctor, which is covered by my health

insurance. I have considered taking the test, because I have 3 sisters. Remember this , any

Braca test information can be used against anybody taking the test, and maybe even their

family members in discriminatory practices in employment, health coverage, life insurance

coverage, and travel insurance, which is currently happening, and has implications in the

future. With the great things we like in our ever evolving world of technology, there can still

be a negative impact on us or our family/ loved ones. I am asking God for guidance in this

matter. Stay strong Warriors. God's continued blessings. XoXoXo

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