SciTech

Pugwash: Personal genomics an issue of debate

Credit: Alison Chiu/Advertising Staff Member Credit: Alison Chiu/Advertising Staff Member

23andMe — a privately held personal genomics company — has dominated the market for genetic testing since it began its direct-to-consumer DNA testing service in 2007. For $99, a consumer could send a sample of their saliva in for testing and receive an interpreted report of their sequenced genome, which includes information such as inherited traits, genealogy, and risk of congenital diseases. However, there has been some controversy over the ethics of the services that 23andMe and other direct-to-consumer testing companies offer. For example, 23andMe was close to being banned from producing this kind of testing by the U.S. Food and Drug Administration (FDA) last December. In its announcement, the FDA claimed that its concerns with the product rose from the questionable accuracy and interpretation of its genetic reports.

How accurate are these test results? ScienceNow reports that 23andMe provides customers with a 70–75 percent confidence that a gene in a result is present. As part of their genetic report, 23andMe also reports a confidence interval from the database of the J. Craig Venter Institute — a genomics research organization — on how accurately the gene is linked with a disease and another confidence interval on how likely it is that the gene will develop into a disease. A way to further verify these intervals is still under development. The accuracy of these tests is crucial because a false positive could cause an individual to seek treatment for a disease they do not have, while a false negative could cause a disease to go unnoticed.

Perhaps just as important as the accuracy of the tests is the way the resulting report is interpreted. Genetic test results are intended to be taken to a doctor after their release. When 23andMe first took off, the National Institutes of Health (NIH) published their views on the up-and-coming industry, claiming that as of that day, doctors were not skilled in statistics, but would have to be in years to come. The NIH defended the premise as a market force on the training of medical professionals to learn more about statistics and data mining. Since then — seeing as nothing has been done to increase the statistical training received by doctors — a sheet of raw-data-style genetic tests could prove problematic for a patient who brings it to their doctor.

There is also a question of FDA jurisdiction. As the regulatory body, the FDA is automatically given permission to regulate any and all things deemed “healthcare” by the government. Officially, the NIH and the National Science Foundation (NSF) should have dealt with 23andMe, but neither agency had the power to do anything as drastic as shutting the product down completely. The FDA has the power to regulate food and drugs, but whether they also have the power to prevent patients from seeking out specific information that could lead to them taking different drugs or eating different foods is unclear in the powers of the administration.

23andMe is still in business and is still publishing some of the cheapest genetic testing results in the healthcare industry. However, they now distribute the test results with a book of genes and their links instead of with a sheet of the diseases directly linked to the genes.