23andMe markets carrier screening service directly to consumers

More than two years after the personal genetics testing company 23andMe was ordered to stop marketing reports on inherited traits and disease risk to consumers, it has launched a new carrier screening service that can aid in family planning decisions. Introduced in October 2015, the service offers screening tests that tell consumers if they carry altered genes, which if passed on to children who receive other such copies from the other parent, confer a 25% chance of them having one of 36 inherited diseases. 23andMe bundles this service with tests for ancestry and such traits as hair color, earwax type, and lactose intolerance potential. The company provides no genetic counseling but encourages consumers to speak with counselors both prior to testing and after getting results that show they are carriers. 23andMe's new screening service does not give consumers information about personal disease risk or their own health as did previously marketed tests. The U.S. Food and Drug Administration (FDA) took issue with these earlier tests and ordered the Mountain View, California–based company to cease the service in 2013 because it had not shown the tests were accurate predictors of disease risk. Screening reports that identify carriers of genetic variants are being marketed to the public by genetics testing company 23andMe. © fotohunter/Shutterstock.com 23andMe's new screening service tests for genetically inherited conditions and gene variants based on their high frequency in certain populations and substantial evidence of their role in disease, says Erynn Gordon, MS, CGC, the company's Director of Clinical Development. A customer receives a report about variants that are common in at least one population—such as Ashkenazi Jews or French Canadians— and that is organized according to customer's self-reported ethnicity. Results for diseases more common for a customer's ethnicity appear at the top of the report. It also notes the incidence that particular variants occur in the customer's ethnic group and that group's residual risk. It also estimates the chances of being a carrier despite a negative result for conditions with established frequency statistics, Ms. Gordon notes. At $199, the carrier screening costs more than the $99 23andMe charged for the expanded health information test it previously offered. The higher price reflects upgraded new tools and features and FDA-required research “to ensure better comprehension of the information we provide,” says Angela Calman-Wonson, 23andMe's Vice President of Communications. Most of the work that 23andMe did to bring the carrier screening service to market involved testing how well almost 1,000 consumers understood information about Bloom syndrome and cystic fibrosis, she notes. “[23andMe is] working with the FDA to bring back as much of the health product as possible,” Ms. Calman-Wonson adds, referring to the tests the company stopped in 2013. As new features and reports are added to the current service, customers will receive them at no extra cost, she explains. Research shows that carriers of genetic variants that cause sickle cell anemia, Bloom syndrome, and Nijmegen breakage syndrome—all included in 23andMe's service—can themselves suffer consequences, says Joy Larsen Haidle, MS, CGC, Genetic Counselor at Humphrey Cancer Center in Robbinsdale, Minnesota, and President of the National Society of Genetic Counselors. Carriers of the HBB variants that cause sickle cell anemia may experience life-threatening sickling of red blood cells when they exert themselves in the heat or at high altitudes (Eichner et al., 2010). Carriers of particular BLM mutations responsible for Bloom syndrome may be at increased risk of developing intestinal and colon cancers (Gruber et al., 2002). Harboring an NBN variant that causes Nijmegen breakage syndrome may also carry moderate risk of breast and ovarian cancer, Ms. Larsen Haidle adds (Damiola et al., 2015). Information about possible health risks for carriers does not appear in screening reports generated by 23andMe because there is conflicting evidence about BLM variants (Cleary et al., 2003, and Baris et al., 2007) and because the company does not have FDA approval to report cancer risk to consumers, say Ms. Gordon and Ms. Calman-Wonson. Indeed, 23andMe “would have to seek a different claim for reporting cancer risk,” notes FDA Spokesperson Eric J. Pahon. Direct-to-consumer carrier screening isn't going away. In October 2014, the FDA paved the way for more companies to offer such tests by issuing requirements that labs have to meet to legally offer direct-to consumer carrier screening tests without premarket notification. These include publishing detailed information about how strongly variants may be related to the risk of developing specific diseases and the accuracy of carrier tests. Emphasizing potential health risks for carriers of particular inherited diseases, Ms. Larsen Haidle says she wishes the FDA would prevent companies from directly marketing carrier screening panels that include variants to consumers. But she applauds 23andMe for both advising consumers to speak to genetic counselors and explaining on its website how to find them. However, some genetics professionals are concerned that most consumers won't follow advice to seek genetic counseling and may not understand test results and their implications. In particular, some obstetricians worry that women who use direct-to-consumer carrier testing will miss out on information about “other tests they may want prior to conception or early in pregnancy,” says Joseph R. Biggio Jr., MD, Chair of the American Congress of Obstetricians and Gynecologists' Committee on Genetics and Professor and Director of the Division of Maternal-Fetal Medicine in the Department of Obstetrics and Gynecology at the University of Alabama School of Medicine in Birmingham. Many women might seek carrier screening for spinal muscular atrophy or fragile X syndrome, Dr. Biggio adds. He says some women with positive carrier screening results may suffer significant anxiety and may not know how to access appropriate pre- and post-test counseling to put results into context. However, other geneticists say that given the right resources, consumers can understand basic genetic information. Misha Angrist, Senior Fellow at the Initiative for Science & Society and Associate Professor of the Practice in the Social Science Research Institute, both at Duke University in Durham, North Carolina, says he welcomes the FDA's willingness to create a pathway for direct-to-consumer testing as a hopeful sign. “Maybe the idea that genetic information is necessarily more special and scary than other sorts of serious medical information is finally beginning to lose some steam,” Dr. Angrist says. Genetics professions will likely either have to accept direct-to-consumer testing in some form or else “find a way to outcompete” it, he adds.