Third-Party Genetic Interpretation Tools: A Mixed-Methods Study of Consumer Motivation and Behavior

Area of Science:

• Genetics
• Bioinformatics
• Consumer Health

Background:

• Researchers may offer raw genetic data to consumers, necessitating understanding of user behavior.
• Direct-to-consumer (DTC) genetic testing customers access raw data, raising concerns about accuracy, privacy, and healthcare resource use.

Purpose of the Study:

• To investigate the motivations, behaviors, and perspectives of DTC customers who access raw genetic data.
• To understand the usage patterns and implications of third-party interpretation tools for health information.

Main Methods:

• A survey was conducted among 1,137 DTC customers recruited via social media.
• Exploratory interviews were performed with 10 survey respondents to gain deeper insights.

Main Results:

• 89% of respondents downloaded their raw genetic data, and 94% of downloaders used at least one third-party tool (e.g., Promethease, GEDmatch).
• Over half (56%) used both health-related and non-health-related tools, differing demographically and motivationally from single-tool users.
• Interviews revealed curiosity and social networking as drivers for using multiple tool types.

Conclusions:

• DTC customers increasingly use unregulated third-party tools to seek health information, even when initially motivated by ancestry.
• This trend presents both challenges and opportunities for the professional genetics community regarding data interpretation and consumer engagement.