Third-party interpretation of personal genetic data: the tools, users, and implications for policymaking
Nelson, Sarah Catherine
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Individuals have unprecedented access to their “raw” or uninterpreted genetic data through direct-to-consumer (DTC) genetic testing, research participation, or clinical sequencing. Raw data can be transferred to a growing number of independent, third-party interpretation (TPI) tools online for further analysis and interpretation across the domains of health/wellness, ancestry, and genealogy, yet little is known about who is using these tools, why, and with what outcomes. In this project I examined the tools, users, and implications for policymaking to better understand how the growing access to uninterpreted genetic data and various means to interpret it may unfold. First, I characterized TPI tools and interviewed tool developers, which revealed heterogeneity across tools in terms of the types of information returned and methods for returning it. Several developers portrayed tools as “bridging to the literature” rather than interpreting users’ data, in that tools linked user genotypes to information in publicly available databases of variant annotation and scientific literature. Second, I surveyed over 1,100 DTC genetics testing customers about their use of raw data and TPI tools. I found high rates of data download and use of multiple tools, including across the domains of health/wellness, ancestry, and genealogy. In follow-up interviews, I found that social networking and general curiosity were common reasons for this cross-domain use. Finally, to inform policymakers considering regulation in this space, I described DTC raw data provision and TPI as a distributed, supply chain system and identified scientific and technical aspects of each component in the system to inform policy discussions. I mapped some aspects of the regulatory landscape, focusing on U.S. federal health regulations, and concluded that existing regulatory mechanisms may not cleanly fit either DTC raw data or TPI tools and indeed may be constrained by First Amendment free speech protections. I conclude by summarizing my unique scientific contributions; offering recommendations for how to maximize benefits and minimize harms; and identifying avenues for further research, including to characterize an expanding set of DTC services and TPI tools, explore non-DTC routes to raw data access and TPI tool usage, and examine potential policymaking in a global context.