The development of a genetic test for Bloom Syndrome (BS) is not news; however the Feb 21 approval by the Food and Drug Association for the home test after fifteen months of denial has made news, especially among the companies that develop genetic tests. It also responds for increased consumer demand for affordable genetic information, especially among those considering having children.
Bloom Syndrome is one of at least 38 genetic diseases that can affect someone of Jewish descent. If the altered gene is carried by both parents, there’s a 25 percent chance of their offspring having BS. The test made by 23andMe, a Mountain View, Calif.-based personal genetics company, is considered a carrier screening test.
The disease causes short stature, immune deficiency, sensitivity to sun, sterility, and a heightened risk of cancer. While some individuals may present with symptoms early in life, others may develop problems until adulthood. No treatment is currently available for the stunted growth or the cell mutation that leads to cancer. Both parents must carry the BS gene in order to pass the risky genetic variant. It only affects those of Ashkenazi Jewish descent whose ancestors came from Germany, France or Eastern Europe.
While the syndrome is rare among the general population, it is estimated that nearly 1 in 140 Ashkenazi Jews in the U.S. carry the BS gene, and 1 in 2 carry one of the many genetic diseases that affect the general Jewish population. Carrier screening so important that many labs offer panels that look for the genes that affect Jews of all descents along with genetic markers of other infant problems that may impact the general population.
The FDA is not reversing its decision to stop companies from selling personal genetic tests directly to consumers. The decision appears to mainly apply to the Bloom test. In approving this test the FDA seems to be using this test as a model for regulating new types of direct-to-consumer genetic tests. The primary FDA complaint lay in the lack of opportunity to evaluate risks and benefits to consumers.
Companies like 23andMe are excited about new decision to re-classify carrier screening tests. Instead of requiring companies to go through an entire review process, they only need to notify the FDA about a new test and meet certain requirements for analytic validity, notifying patients of risk, and helping patients find genetic counselors. “It’s a significant step for them,” says 23andMe CEO Anne Wojcicki. “They are definitely doing something novel here.”
The decision is just one small part of the larger picture of regulating home self-testing. Director of the Office of In Vitro Diagnostics and Radiological Health in the FDA’s Center for Devices and Radiological Health, Alberto Gutierrez, Ph.D. stated, “We have cleared devices based on the risk and the intended use. These tests have the potential to provide people with information about possible mutations in their genes that could be passed on to their children.”
This new test strikes a personal note for me. In the 1970s UCLA started genetic testing programs including one for Tay-Sachs, another genetic variant carried by those of Jewish descent. Several of us agreed to be part of the testing sample and went to the clinic for the required blood test. While I was not a carrier, it made me realize how little information was available about the many other genetic problems I could pass along to my children. It was no longer about not smoking, no alcohol, eating healthy and avoiding certain drugs.
Clearly consumers need to be educated about the value and limitations of self-testing kits. They should not let the tests made decisions for them. As with pregnancy tests, couples should always have the support and advice of medical professionals.