Return of individual research results from genome-wide association studies: experience of the Electronic Medical Records and Genomics (eMERGE) Network

Abstract

Purpose Return of individual genetic results to research participants, including participants in archives and biorepositories, is receiving increased attention. However, few groups have deliberated on specific results or weighed deliberations against relevant local contextual factors. Methods The Electronic Medical Records and GEnomics (eMERGE) network, which includes five biorepositories conducting genome-wide association studies, convened a Return of Results Oversight Committee (RROC) to identify potentially returnable results. Network-wide deliberations were then brought to local constituencies for final decision-making. Results Defining results that should be considered for return required input from clinicians with relevant expertise and much deliberation. The RROC identified two sex chromosomal anomalies, Klinefelter Syndrome and Turner Syndrome, as well as homozygosity for Factor V Leiden, as findings that could warrant reporting. Views about returning HFE gene mutations associated with hemochromatosis were mixed due to low penetrance. Review of EMRs suggested that most participants with detected abnormalities were unaware of these findings. Local considerations relevant to return varied and, to date, four sites have elected not to return findings (return was not possible at one site). Conclusion The eMERGE experience reveals the complexity of return of results decision-making and provides a potential deliberative model for adoption in other collaborative contexts.

Intentions to receive individual results from whole-genome sequencing among participants in the ClinSeq study

“…Yet, the breadth of genomic interrogation has led to debate regarding which, if any, of the results should be returned to research participants. [3][4][5] There is little controversy about the return of aggregate results. It is highly desirable and a social good to inform participants about the scientific discoveries that emanate from the use of their samples/data.…”

Willingness to participate in genomics research and desire for personal results among underrepresented minority patients: a structured interview study

“…It is important to elucidate levels of willingness to receive personalized genomic information among individuals from different racial and ethnic groups so that existing health disparities are not further exacerbated due to unequal uptake of disease risk information that could potentially be health protective. Relatedly, it is important to consider underrepresented patient perspectives on the currently vigorously debated specific issue of whether personal results from genomics research should be returned to research participants (Beskow and Burke 2010;Wallace and Kent 2011;Kollek and Petersen 2011;Fullerton et al 2012;Clayton and McGuire 2012;Dressler 2012). On the one hand, offering individual results could lead to stronger communication between participants and researchers which may lead to greater satisfaction (O'Daniel and Haga 2011), more health involvement, and more support of research.…”

Let us ask better questions

“…The first Electronic Medical Records and Genomics (eMERGE) consortium, for example, returned no results, despite extensive discussion about which results to return. 7 The fact that there is such a gap between survey responses and actions raises a fundamental question about what these surveys and interviews, which typically pose hypothetical questions to researchers whose connections with research participants range from clinician scientists and primary data gatherers to downstream data users, actually reveal. The research may simply be accessing idealized expressions of how the researcher respondents would prefer to act, unconstrained by resources and the attitudes and actions of others.…”