Third party interpretation of raw genetic data: an ethical exploration

Area of Science:

• Genomics
• Bioethics
• Consumer Health Informatics

Background:

• Direct-to-consumer genetic testing (DTC-GT) faces regulatory scrutiny.
• Third-party interpretation (TPI) websites provide alternative health data analysis from DTC-GT raw data.
• Ethical implications of TPI websites are underexplored.

Purpose of the Study:

• To describe TPI services and analyze their ethical implications.
• To compare TPI ethical concerns with those of DTC-GT.
• To inform the ongoing debate on personal genomics and data privacy.

Main Methods:

• Review of five popular TPI websites (Promethease, Interpretome, LiveWello, Codegen.eu, Enlis Personal).
• Analysis of SNP-based genomic data interpretation for health-related information.
• Ethical assessment focusing on informed consent, clinical validity, utility, and data privacy.

Main Results:

• TPI websites share ethical concerns with DTC-GT, including inadequate consent and lack of medical oversight.
• Data privacy concerns were less prominent; no studied TPI sites sold or shared user data.
• Advertising and health benefit claims were minimal on TPI websites compared to DTC-GT.

Conclusions:

• TPI services introduce new ethical dimensions to the personal genomics landscape.
• Awareness of TPI websites is crucial as consumer genomics expands.
• This study provides a foundational ethical analysis for future research and reflection on TPI services.