23andme breast cancer risk screening

Home testing for breast cancer risks: coming soon?

We’re used to the idea of testing for pregnancy in the comfort of our own bathrooms, but would you be comfortable with testing your risk of breast cancer without consulting a surgeon?

That possibility may be with us sooner rather than later if news emanating from the USA is anything to go by: a test for genetic predisposition for breast cancer created by the genetic testing company 23andMe has been approved by America’s Food and Drug Administration. The company specialises in DNA tests for people who wish to investigate their ancestry: now they’re intending to use that information in order to screen for specific genetic mutations in your family tree that could act as a warning flag for potential breast cancer.

Scheduled to retail from the company’s website in the near future for $199, the test – as yet unnamed – will be a simple saliva test that the user will undertake and then send back to the company, based in California. “The test that we offer is a great way for those people to get access to the information directly without having to get a prescription,” says Emily Drabant Conley, the Vice-President of Business Development at 23andMe.

A very narrow scope so far

However, don’t start reaching for your debit card just yet: the new test will only screen for three possible breast cancer-related mutations of the thousands that exist – and even then, the initial test is only applicable for people of Ashkenazi (eastern Europe) Jewish extraction, which comprises three-quarters of the global Jewish community, has a worldwide population of roughly a million, and approximately a quarter of a million people in the UK (they also are the most prone to those three particular breast cancer mutations, and particularly at-risk for breast cancer in general).

And it’s this very limited coverage of testing which is worrying certain medical experts. “People will misunderstand and believe that because they test negatively, that is, they don’t test positive for any of the three breast cancer-related genes that are being tested by the company, that that means they have a clean bill of health,” says David Magnus, a medical ethics professor at Stanford University.

Pointing out that someone taking the test could easily have another one of the thousands of gene mutations that aren’t covered by the kit and assume they’re in the clear, Magnus also expressed reservations that medical professionals were being cut out of the equation. “For some people who might be getting this test, it also might be harder to really interpret and understand those results,” he said.

Will we be seeing home cancer testing in the UK soon?

We can see why people would be interested in a stay-at-home test, but it’s not as simple as that because genetic testing is complicated. At present, it’s used to detect predictive risks of breast cancer – a positive result means you have an increased risk of developing breast cancer but not that you are definitely going to develop it. A positive result means you can take proactive steps to manage this risk but, for some, this can mean you feel permanent anxiety about something that may never happen. For anyone contemplating this type of testing, genetic counselling is highly recommended.