Back in 2016, Helen (a pseudonym) took three utterly totally different direct-to-consumer (DTC) genetic exams: AncestryDNA, 23andMe, and FamilyTreeDNA. She observed genetic testing as an answer to enhance her paper path household tree evaluation, and it panned out when she matched with a lot of new households.
Helen is one amongst over 26 million individuals who’ve reportedly taken a DTC genetic check out. That’s a lot of spit in tubes being mailed to companies that promise customers particulars about their effectively being, ancestry and family timber.
Notably, the look for genetic insights doesn’t on a regular basis stop with the interpretations equipped by the DTC companies. One of Helen’s matches on AncestryDNA instructed her how she may stretch her non-public genomic information further: by downloading her raw genetic data, that prolonged guidelines of As, Cs, Gs and Ts at each of the DNA web sites the DTC agency measured, after which importing it to third-party interpretation devices on-line paying homage to GEDmatch and DNA.land to go looking out further household.
Helen enthusiastically did so and joined Facebook groups dedicated to serving to people use their genetic data to flesh out their family timber. While Helen wasn’t initially in quest of well-being information, on these boards she realized regarding the third-party instrument Promethease and decided so as to add her data there as successfully. She thought, “Well, for five dollars – we’ll see what it says.”
Researchers don’t have a very clear or full picture of how DTC customers use their raw data and these kinds of third-party devices. As a genetics researcher inside the ethical and social implications of genomics in evaluation, medical care, and regular life, I really feel it’s important to deal with this knowledge gap – considerably given questions on whether or not or not and to what extent these third-party devices are or must be regulated.
MAKING THE MOST OF RAW GENERIC DATA
I interviewed Helen as half of larger evaluation analysis to raised understand the views, experiences, and motivations of those accessing their raw DTC data and using third-party interpretation devices.
My colleagues and I carried out a survey of about 1,100 DTC customers recruited by the use of social media and adopted up with interviews of 10 respondents — to our knowledge, an important survey of this topic to date.
Eighty-nine % of our survey contributors had downloaded their genetic data from a DTC agency, and most of those downloaders (94%) had moreover used a lot of third-party interpretation devices – three devices on frequent. The principally used devices have been GEDmatch (84% of instrument customers), Promethease (63%) and DNA.land (55%).
One notable side of our outcomes is that over half of instrument customers (56%) used every health-related and non-health-related, paying homage to ancestry and household tree, devices. We have identified as this phenomenon “crossover” use. These crossover customers have been thought-about utterly totally different from people who used only one instrument type on the subject of demographics, which DTC exams they’d taken and what initially motivated them to do DTC testing.
For occasion, the proportion of customers who had ordered 23andMe elevated from the non-health-only to crossover to the health-only group, with a reverse sample for every AncestryDNA and FamilyTree DNA exams. While this sample is as you might depend on, it was beautiful what variety of respondents initially ordered DTC exams focused on ancestry and household tree-like from AncestryDNA and FamilyTree DNA – who went on to utilize their genetic data from these companies in health-related third-party devices.
Imagine a DTC purchaser paying homage to Helen who first focused on the genetic household tree. After matching with some new household on GEDmatch, she went on to plug her data into Promethease. There she observed lots of experiences of probably elevated genetic menace for illnesses ranging from age-related macular degeneration to pressured legs syndrome – pretty a distance from the place her household tree quest started.
Uploading genetic data to a variety of third-party devices is wise when you consider that DNA carries a lot of varieties of information: well-being risks, family relations, and additional distant genetic ancestry. A genome is a form of a Swiss Army knife in that you’d be capable of drawing on utterly totally different traits counting on what you might want to do or know.
Through our follow-up interviews, my evaluation group realized how crossover customers arrive at such utterly totally different third-party devices. As with Helen, a typical function was listening to about a lot of devices on social media venues paying homage to Facebook groups or subreddits.
And once you’ve begun plugging your raw data into one instrument, there’s comparatively low activation vitality required to utilize additional devices. Other causes people tried additional third-party devices included preliminary lack of fascinating findings in a single space and regular curiosity to extract as lots of information as potential.
MORE INTERPRETERS, MORE IMPLICATIONS
Once comparatively obscure, third-party devices have come into the spotlight over the earlier yr. The third-party household tree site GEDmatch helped crack the Golden State Killer murders and subsequently dozens of various chilly circumstances. The health-related instrument Promethease garnered headlines when folks have been incorrectly instructed they’ve been at elevated menace for extreme illnesses – though these false positives, ultimately, bought right here proper right down to errors throughout the DTC genetic data, fairly than Prometheus’s interpretation.
Genetic professionals and significantly genetic counselors who’re on the frontlines, seeing victims with their third-party experiences, have well-founded points regarding the prime quality and reliability of outcomes from DTC testing companies and third-party devices alike. This unease might be going exacerbated by the variability in scientific approaches and privateness and security practices all through third-party devices. While some rightly question the adequacy of current oversight for every privateness controls and reliability of health-related information, tighter regulation may prohibit specific particular person freedom to pursue non-public genetic information.
Though my colleagues and I’ve been able to attain over a thousand DTC customers in our analysis, we won’t say that our findings generalize to all DTC customers. Because of how we recruited contributors, it’s probably that we sampled a very motivated and engaged group of people. The DTC testing and third-party instrument panorama can be altering rapidly. Just before now yr, for example, GEDmatch modified its phrases of service referring to the use bylaws enforcement larger than as quickly as, My Heritage expanded into health-related decisions, and Gencove retired its consumer-oriented product. Any evaluation on this house is on shifting sands.
But this form of analysis may even help inform genetics professionals who’re considering delivering raw DNA data in numerous contexts. This consists of researchers, paying homage to these planning to return raw data to contributors throughout the National Institutes of Health’s All of Us precision medication enterprise. Clinicians who order genome sequencing exams might enable raw data entry; victims have the approved correct to their full laboratory experiences. Our analysis can shed some gentle on what individuals who acquire raw data by the use of these totally different routes might do with it.
Overall, our analysis illustrates the complexity and variety of third-party instrument customers’ motivations, experiences, and actions. These findings ought to tell, nevertheless possibly obtained simplify, the job of any regulators grappling with whether or not or not and the best way to answer to this rising topic of genetic interpretation.