Most of these services also allow users to download their “raw” genetic data to be further analysed using third-party apps – and that’s something of a concern, say research scientists from the University of Washington in the US.
Little is known about how and why consumers are using these apps, they say, or about a variety of potential risks associated with them, such as false positives about health information or unknowingly linking a family history to an unsolved crime.
“It’s the proverbial ‘Wild West’ of genetic interpretation,” says Sarah Nelson, lead author of a paper published in the American Journal of Human Genetics.
Nelson and colleagues Deborah Bowen and Stephanie Fullerton surveyed more than 1000 people who had paid to obtain their genetic profile. Of these, 89% had downloaded their raw and 56% had then used a third-party application such as Promethease or GEDmatch.
“We found that individuals who are initially motivated to learn about ancestry and genealogy frequently end up engaging with health interpretations of their genetic data, too,” says Fullerton, a bioethicist.
“This has implications for the regulation of such testing and interpretation practices.”
Third-party interpretation is largely unregulated, Nelson says, and there are potential risks for consumers because of unanswered questions: What did they consent to? What do you think their data is going to be used for?
Nelson also says that false positives for health conditions can cause emotional strain and put pressure on an already taxed health care system. People may find out about potentially serious diseases without much context or a support system.
On the flip side, third-party tools can enable crowdsourced research and encourage people to learn about genetics.
Overall, she suggests, it is pleasing that people are taking an interest in genomics, but more research is needed on how they are using their information. “We just had very little data on this.”
Nick Carne is the editor of Cosmos Online and editorial manager for The Royal Institution of Australia.
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