A recent study published in Genetics in Medicine found that predictions of disease risk from different direct-to-consumer (DTC) genetic testing companies vary, sometimes dramatically. The research team at Emory University Rollins School of Public Health compared methods and results from 23andMe, deCODEme, and Navigenics by simulating genotype data for 100,000 people and predicting the risks of six diseases based on each company’s method.
They found that “predicted risks differed substantially among the companies as a result of differences in the sets of single nucleotide polymorphisms selected and the average population risks selected by the companies, and in the formulas used for the calculation of risks.”
This study is not the first to reveal an alarming degree of variation among different gene testing products.
In 2010, the U.S. Government Accountability Office put out a damning report on DTC gene testing. Its conclusion: Notwithstanding some good PR for the industry since the GAO’s last report, test results from four different DTC companies were still “misleading and of little or no practical use.” In fact, its investigation found that “identical DNA samples yield contradictory results.”
The Nuffield Council on Bioethics put out a report the same year which cautioned, “The powerful rhetoric used to promote these developments should be treated with caution, since it can downplay potential harms and exaggerate the usefulness of the technologies concerned.”
People may be willing to accept a degree of uncertainty in a burgeoning field, but the assumption is that the technology will improve over time. That this year’s results still yield the same conclusion is disconcerting.
More troubling, however, is an increasing monopoly in the DTC world. Two of the three companies in the recent study – deCODEme (bought by Amgen) and Navigenics (bought by Life Technologies) – have recently stopped selling their DTC tests. 23andMe is the only DTC gene test vendor left.
Sure, 23andMe has some competition. DNA Ancestry now offers its test for $99 too. But it only offers information about family origins. For the same price, 23andMe offers the largest DNA ancestry service in the world and information on more than 240 health conditions and more than 40 other inherited conditions. Its retail price was recently heavily subsidized by Facebook billionaire Yuri Milner, one of the investors in 23andMe’s $50 million round of new financing.
So what does this emerging monopoly do for accuracy? If 23andMe is the only player in the field, comparative studies will no longer even be possible. As the company sweeps up patents, and throws millions into a new television ad campaign, the possibilities for competition will only weaken, and patients could suffer the cost. As the controversy over Myriad’s patent on the BRCA genes has documented, monopolies and public health don’t mix too well.
The implications of a monopoly in the DTC field are not insignificant. 23andMe suggests radical life changes and choices based on its results, from which medications to take to how to responsibly procreate. What if they’re wrong?
Furthermore, a monopoly will only accelerate its shifting business plan, disintegrating any real chance of control or privacy over your genetic information.
Perhaps consumer genetic testing is best left for the fun stuff. (How much Neanderthal DNA do you have?) For serious medical conditions and risks that might affect family members as well as yourself, you may be better off following the recommendations of the European Academies Science Advisory Council and sticking to genetic testing in a medical context.