Mind the gap: resources required to receive, process and interpret research-returned whole genome data

Area of Science:

• Genomics
• Precision Medicine
• Population Health

Background:

• Genotype-phenotype studies often lack diversity, limiting precision medicine's equitable application.
• The All of Us research program aims to recruit one million diverse U.S. participants.
• This initiative emphasizes multiple dimensions of diversity, including race, ethnicity, gender, age, socioeconomic status, disability, and geography.

Purpose of the Study:

• To review models for returning genetic research results to participants.
• To identify potential barriers to accessing and interpreting returned genetic data.
• To ensure equitable access and understanding of human genetic research benefits for all participants.

Main Methods:

• Review of proposed genetic data return models.
• Analysis of likely data file formats and transfer/access modes.
• Inventory of resources needed for participants to access and interpret genetic data.

Main Results:

• The scale of returning research results, including whole genome sequencing data, is unprecedented.
• Anticipated barriers exist for both digitally literate and illiterate participants in accessing and interpreting genetic data.
• Potential for access disparities in receiving, processing, and interpreting research results is highlighted.

Conclusions:

• The scientific community must address potential access disparities in genetic data return.
• Ensuring all participants have equal access and understanding is crucial for the success of human genetic research.
• Proactive measures are needed to 'mind the gap' and promote equitable engagement with research findings.