Do third-party genetic analysis tools interpret data, or simply “bridge to the literature”?

A variety of third-party genetic interpretation tools are available online that enable users to pursue self-directed analysis of their personal genetic data. Tools can return information about health/wellness, family relatedness, or genetic ancestry. While users may seek out these tools for help interpreting their data, some developers describe tools as providing a “bridge to the [scientific] literature,” rather than interpretation.

What could you do with a file of your genomic data downloaded to your hard drive? Ten years ago this question would have made little sense, but now that millions of people are purchasing direct-to-consumer (DTC) tests such as 23andMe and AncestryDNA, access to “raw” personal genetic data is increasingly common.

Turns out you can do quite a bit. A parallel industry has grown up alongside DTC genetic testing: online third-party interpretation tools that use DTC raw data files as substrates. Over the past year and a half, I have researched what third-party tools exist, who runs them, and how they work. I collected information primarily by reviewing the tool websites and interviewing some of the developers. I summarize some highlights from my findings below, but a fuller account (including methodological details) is available in my published article in the Journal of Genetic Counseling, co-authored with my adviser Malia Fullerton.

Summary of third-party tools

I cataloged 23 third-party interpretation tools that vary considerably in terms of how they operate and what types of information they return (see table below). The majority of tools (16/23) provide some form of health or wellness results, which range from carbohydrate sensitivity to eye color, drug response predictions to carrier status for a devastating disease (meaning you don’t have the disease but your child could if your partner also carries the same genetic variant). Eight tools report on genetic ancestry, while five can help you find family members or more generally explore close relatedness with other users of the tool.

If you’re thinking about privacy of your genetic data, which is typically a good idea, it’s notable that four tools analyze the data locally – i.e., it doesn’t leave your computer or your smartphone. Some tools are run by large companies, a few of which are also DTC companies, and charge in the ballpark of $50-$100 for interpretation services. Other tools are run by academics or non-profit citizen science groups, where your “payment” might instead be contributing your data to various research initiatives.

Table: Summary of third-party interpretation tools

Name Genetic ancestry Genealogy and relatives Health and wellness
Anabolic Genes
David Pike’s utilities
DNA Doctor
Enlis Genome Personal
Family Tree DNA (Autosomal Transfer)
Gene Knot
Golden Helix Genome Browser
GPS Origins
James Lick Haplogroup Analysis
WeGene (English version)

Bridge to the literature — or dive into the abyss?

In conducting interviews with tool developers, I came to realize something quite remarkable: many (roughly half of those I interviewed) don’t think they are interpreting genetic data at all. Rather, they view the tool as simply linking users’ genetic data to relevant scientific publications or genetic annotation databases, acting as what one developer called a “bridge the literature.” It became clear that developers view these bridging or linking activities as distinct from interpretation, the latter involving further personalizing or packaging the information for the user.

Tool developers may value faithfully representing the complexity of genetics, but it’s unclear how users experience these “bridging” activities. There is evidence to believe that, as with DTC genetic testing more generally, users may bring results to genetic counselors or other health care practitioners to help fill in the blanks potentially left by interpretation services. Indeed, the few studies to date of third-party tool users found that 30% brought results to a health care provider, and that genetic counselors often feel frustrated and ill-equipped to deal with patients’ third-party reports.

Many routes to raw data

The number and variety of third-party genetic interpretation tools will likely increase as access to raw personal genetic data expands. The popularity of DTC genetic testing shows little sign of waning, meaning a growing pool of customers with the ability to download their raw data file. Additionally, individuals who participate in genetic research or get a clinical genetic test may obtain access to their genetic data through those routes.

Moving forward, there’s more to learn about users of third-party interpretation tools, including how they perceive and use the information they get. Of primary interest given my conversations with tool developers is whether users think tools are interpreting their genetic data or simply bridging them to scientific literature. Another key area for future research, and one I also discussed with developers, is that of regulation. DTC genetic testing has experienced increased regulatory scrutiny in recent years, most notably for the US context in the story of 23andMe and the FDA. However, it’s unclear how interpretation services unbundled from actual genetic laboratory testing fit into domestic or international regulatory landscapes.

Journal of Genetic Counseling articleThis post is a summary of a recently published article in the Journal of Genetic Counseling, “‘Bridge to the Literature’? Third-Party Genetic Interpretation Tools and the Views of Tool Developers,” written by myself and my primary dissertation adviser, Malia Fullerton. The accepted author manuscript version (post-peer-review, pre-copyedit) is available for download here. A read-only version of the final authenticated, full text version is available here.

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