Consent for genetic research in the Framingham Heart Study

Abstract

Extensive efforts have been aimed at understanding the genetic underpinnings of complex diseases that affect humans. Numerous genome-wide association studies have assessed the association of genes with human disease; including the Framingham Heart Study (FHS), which genotyped 550,000 SNPs in 9,000 participants. The success of such efforts requires high rates of consent by participants, which is dependent on ethical oversight, communications, and trust between research participants and investigators. To study this we calculated percentages of participants who consented to collection of DNA and to various uses of their genetic information in two FHS cohorts between 2002 and 2009. The data included rates of consent for providing a DNA sample, creating an immortalized cell line, conducting research on various genetic conditions including those that might be considered sensitive, and for notifying participants of clinically significant genetic findings were above 95%. Only with regard to granting permission to share DNA or genetic findings with for-profit companies was the consent rate below 95%. We concluded that the FHS has maintained high rates of retention and consent for genetic research that has provided the scientific freedom to establish collaborations and address a broad range of research questions. We speculate that our high rates of consent have been achieved by establishing frequent and open communications with participants that highlight extensive oversight procedures. Our approach to maintaining high consent rates via ethical oversight of genetic research and communication with study participants is summarized in this report and should be of help to other studies engaged in similar types of research.

Genetic research participation in a young adult community sample

“…Our rates of consent to allow us to store and create an immortalized cell line for future research studies, including other health/medical problems like heart disease and diabetes, were comparable to rates found in other community studies adding a genetic arm (Levy et al 2010). Others, too, have found that sharing data and samples with others remains a concern for participants (Trinidad et al 2010).…”

Participation in Genetic Research: Amazon's Mechanical Turk Workforce in the United States and India

“…The acceptance of genetic research for helping children or future generations in respondents from both India and the US may be similar to what is seen with Framingham heart study participants, which is a research project that has continued for generations and has a high rate of acceptance/willingness to participate in genetic research, even to the extent of creation of cell lines for research [31]. A high percentage of study subjects from the third generation (99%) consented to DNA extraction and cell line creation.…”

Are enrollment sites the key to optimizing participation in genetic studies?

“…This view is shared by others who report good recruitment results after having refined their recruitment practices [3,4,7,8]. Open, frequent and personalized communication with potential participants has been identified as one potential success factor [3,7,8].…”