But despite their allure, experts warn that many direct-to-consumer genetic cancer risk tests promise more than they can actually deliver. “People may experience un-needed anxiety or false reassurance,” says the National Cancer Institute (NCI). “Or they may make important decisions about medical treatment or care based on incomplete information.” Curious to know if these tests are right for you? Here’s how to know — and a review of some of the more popular options on the market. Genetic testing allows healthcare providers to look for inherited gene mutations associated with increased cancer risk, such as BRCA1 and BRCA2 gene changes that have a clear tie to breast and ovarian cancer. For example, women in the general population have roughly a 12 percent chance of developing breast cancer in their lifetime; for women with BRCA mutations, it is closer to 70 percent, according to the NCI. Understanding that risk can help a woman and her healthcare providers plan prevention strategies. RELATED: My Genetic Test Came Back BRCA Positive. Now What? “Medical-grade testing is developed and approved to answer medical questions [such as]: ‘Do I carry a mutation in one of these hereditary cancer genes?’” says Ellen Matloff, the president and CEO of My Gene Counsel, a company that helps clients better understand their genetic testing results, and the former director of the cancer genetic counseling program at Yale University School of Medicine in New Haven, Connecticut. “At-home testing kits are for entertainment and are not developed, or approved, to answer medical questions.” There are several reasons for that. Medical-grade testing is far more thorough, Matloff says. For example, medical-grade testing for BRCA gene mutations analyzes thousands of gene variant options, whereas one leading at-home kit considers just three. There are also differences in accuracy. A study published in March 2018 in the journal Genetics in Medicine found that 40 percent of gene variants reported in direct-to-consumer tests were false positives — and that some of the variants companies told users meant they were at “increased risk” for certain health conditions are actually considered common gene variants by clinical labs. An unpublished study presented in October 2019 by Invitae, a medical-grade genetic testing company, found that an individual’s ethnicity may have a significant impact on whether their at-home test results are accurate. MUTYH gene mutations, for example, would have been missed in 100 percent of Asian and 75 percent of African American test takers, but only 33 percent of Caucasian individuals. “Medical-grade testing uses laboratory techniques and validation methods not used by most at-home testing kits,” Matloff explains. “So those results are generally more accurate.”
Am I a Good Candidate for Direct-to-Consumer Testing?
Health insurance plans will often cover genetic testing — which can cost thousands of dollars — but not always, according to the U.S. National Library of Medicine and Breastcancer.org. Direct-to-consumer genetic cancer risk tests tend to be less expensive, so they can be a good starting point for people who are worried about their family history and who do not want to spend too much. “There are some at-home genetic cancer testing kits that are good, reasonably priced, and convenient for people who do not meet insurance criteria for coverage of traditional medical-grade testing and prefer to pay out of pocket and have the test delivered to their house,” Matloff says. But it is important to remember that everyone from the American Cancer Society to the U.S. Food and Drug Administration (FDA) caution that the tests may provide incomplete or inaccurate information, and urge individuals to talk to their doctors before making any health-related decisions on the basis of those tests.
A Review of Three Popular At-Home Genetic Testing Kits
23andMe
“More than 1,000 variants in the BRCA1 and BRCA2 genes are known to increase cancer risk,” 23andMe states. “Our report includes only three of those variants.” The service also screens for two (out of a possible 100-plus) genetic variants in the so-called MUTYH gene, which is associated with a hereditary colorectal cancer syndrome known as MUTYH-associated polyposis, or MAP. Available from 23andMe for $129 and up ColorGenomics differentiates itself from the pack by mandating that its direct-to-consumer tests be physician ordered — whether by your own or an “independent physician” provided by the company. It also makes genetic counselors available to consumers to discuss the results. Available from ColorGenomics for $249
FuturaGenetics
The company’s DNA test checks for a mutation in the CDH1 gene, which increases a person’s risk for hereditary diffuse gastric cancer (HDGC). People with CDH1 mutations that are associated with HDGC have up to a 70 percent chance of developing stomach cancer in their lifetime, while women with CDH1 mutations also have a higher risk of developing breast cancer. Available from FuturaGenetics for $375