Exploring broad consent in the context of the 100,000 Genomes Project: a mixed methods study

Area of Science:

• Genomic Medicine
• Bioethics
• Informed Consent

Background:

• The 100,000 Genomes Project (100kGP) aimed to analyze whole-genome sequences (WGS) for rare diseases and cancer.
• Participant consent is crucial but complex in genomic testing initiatives.

Purpose of the Study:

• To evaluate participant experiences with consent in the 100kGP.
• To identify challenges and successes in the project's consent process.

Main Methods:

• A mixed-methods study involving surveys of 1337 participants and in-depth interviews with 24 respondents.
• Quantitative analysis of survey data and thematic analysis of interview transcripts.

Main Results:

• A proportion of participants did not fully understand the project's complexities or potential results.
• 20% of cancer arm participants surveyed did not recall decisions about additional findings.
• Despite challenges, participants reported overall satisfaction with their project experience.

Conclusions:

• Complex genomic projects require robust consent processes that may need revisiting.
• Assessing initial agreement is vital, but ongoing communication about findings is necessary.
• Findings have implications for the 100kGP and the NHS Genomic Medicine Service.