Consent for genetic research in the Framingham Heart Study

Area of Science:

• Genetics
• Bioethics
• Public Health

Background:

• Understanding complex human diseases relies on genetic research.
• Genome-wide association studies (GWAS) require high participant consent rates.
• The Framingham Heart Study (FHS) genotyped 550,000 SNPs in 9,000 participants.

Purpose of the Study:

• To assess participant consent rates for DNA collection and genetic data usage in the FHS.
• To evaluate the impact of ethical oversight and communication on consent rates.
• To provide insights for other genetic research studies.

Main Methods:

• Analysis of consent data from two FHS cohorts (2002-2009).
• Calculation of consent percentages for DNA sample collection, cell line creation, sensitive genetic research, and notification of findings.
• Examination of consent rates for sharing data with for-profit entities.

Main Results:

• Consent rates for DNA collection, cell line creation, sensitive genetic research, and notification of findings exceeded 95%.
• Consent rates for sharing DNA or genetic findings with for-profit companies were below 95%.
• The FHS demonstrated high participant retention and consent for genetic research.

Conclusions:

• The FHS successfully maintained high consent rates, enabling broad genetic research.
• Frequent, open communication and robust ethical oversight are key to achieving high consent.
• The FHS model for ethical oversight and participant communication can benefit other genetic research studies.