23andMe BRCA Cancer Test Worries Some Genetics Experts – The Before

Most Jewish women are faced with the issue at one point: testing, or not testing.

It is widely recognized that Ashkenazi women are particularly at risk for breast and uterine cancer – a risk that boils down to a few genetic indicators.

Now, genetic testing giant 23andMe is proposing a new FDA-approved test for three of these indicators – mutations on the infamous BRCA gene, commonly known as breast cancer-related. But some genetic testing services tell consumers – and Jews – to pay attention. They say the test is limited, and does not come with the professional advice needed to understand the test results.

"The problem for Jews is really the same for everyone except that it's a special problem for Jews because of the prevalence of these genes in our community," he said. said Jason Rothstein, director of the Sarnoff Center for Jewish Genetics. from metropolitan Chicago.

This week, the Sarna Center released a statement on the 23andMe test, approved in March. The statement did not directly criticize the 23andMe test, but offered some information about the BRCA gene, and urged consumers to seek genetic counseling before and after taking a genetic test.

"Genetic counseling and education, before and after testing, are critically important," said Karen Grinsaid, director of Emory University's JScreen Jewish Genetic Screening Program and genetic counselor. for more than three decades. She added that informing people in advance what they can learn through testing can help prevent traumatic shocks.

"If people do not do this kind of testing with this type of understanding, we do not know what kind of reaction they are going to have, especially if they have a positive outcome," she said.

In the United States, women have about a 12% chance of developing breast cancer in their lifetime. But having certain mutations on the BRCA 1 and BRCA 2 genes of your DNA can push this probability up to 70%, according to studies published in the Journal of the American Medical Association. These mutations are found in Ashkenazi Jews at a rate twice as high as in the general population, and are more often the dangerous types.

As a result, BRCA genes are a major focus of cancer research. Certain mutations on the BRCA 1 and BRCA 2 gene – which normally encode proteins repress tumors – can significantly increase the risk of carrier cancer. These mutations can result most often in breast and uterine cancer, but can also cause other types of cancer, such as that of the pancreas. Men and women can have and transmit BRCA mutations.

All BRCA mutations are not correlated with cancer – although 1000 of them are. The test proposed by 23andMe, in comparison, tests three of these mutations. The mutations in their test are among the mutations most commonly found in people of Ashkenazi origin.

But regardless of whether one has BRCA mutations, there are other gene variants and mutations that can boost your risk of cancer. Direct consumer testing like the one offered by 23andMe does not scan these other pieces of the genetic puzzle, some of which may prove to be equally important in predicting the likelihood that the cancer will become a specific BRCA mutation.

Without genetic counseling, Rothstein says, consumers do not know what they are and what the test results actually mean – that they are negative for BRCA or positive mutations.

A negative result "can reassure many people who might be at risk for other reasons," Rothstein said.

And if it's positive?

"You are left without clinical or supportive pathways to help navigate this situation," he said.

23andMe, in its terms of use, encourages clients to speak with genetic counselors and health professionals before obtaining test results. But Grinzaid said that without a genetic counselor providing a specific referral, a client might not end up talking to a suitable doctor for the outcome of their test.

The 23andMe website also notes that some test results, such as those mutations that can lead to cancer, are not comprehensive reports on a person's cancer risk. Grinzaid said such warnings are not enough.

"Even if this information is in front of the person, people do not read the fine print," she said. "They will see a negative test result and say," Oh, I'm not at risk of cancer. "

But overall, it's best to offer tests directly to consumers, according to Kelly Metcalfe, a researcher in breast cancer prevention at the University of Toronto. In 2015, she is the author of an article published in the journal Current Oncology claiming that all Jewish women should undergo BRCA screening, to save lives and relieve the medical system.

"We know women want this information," said Metcalfe. "We know that getting positive test results can be painful at first, but it's acceptable in the long run."

However, Metcalfe said that any cancer screening should be accompanied by strong advice – especially for people who test positive. Part of the problem, she said, is that consumers do not know what they need to know about cancer screening. For example, the 23andMe test only covers genes that are found almost exclusively in people of Ashkenazi descent.

"For someone who's not Jewish, it's not going to be useful," she said. "I do not think people fully understand, and they should not be supposed to understand, that it's a problem."

But the responsibility for all the potential problems that may arise from this test method lies not only with 23andMe, Rothstein said. Other companies are offering more and more such services, and the FDA approves them – that's why, according to Rothstein, consumers need to know the risks of testing.

"Yes [23andMe] were going to go bankrupt tomorrow, it's still the direction that take the tests, "Rothstein said.

Ari Feldman is a staff writer at the front. Contact him at [email protected] or follow him on Twitter @aefeldman