Participant-partners in genetic research: an exome study with families of children with unexplained medical conditions

Background: Unlike aggregate research on groups of participants with a particular disorder, genomic research on discrete families’ rare conditions could result in data of use to families, their healthcare, as well as generating knowledge on the human genome. Objective: In a study of families seeking to rule in/out genetic causes for their children’s medical conditions via exome sequencing, we solicited their views on the importance of genomic information. Our aim was to learn the interests of parents in seeking genomic research data and to gauge their responsiveness and engagement with the research team. Methods: At enrollment, we offered participants options in the consent form for receiving potentially clinically relevant research results. We also offered an option of being a “partner” versus a “traditional” participant; partners could be re-contacted for research and study activities. We invited adult partners to complete a pre-exome survey, attend annual family forums, and participate in other inter-family interaction opportunities. Results: Of the 385 adults enrolled, 79% opted for “partnership” with the research team. Nearly all (99.2%) participants opted to receive research results pertaining to their children’s primary conditions. A majority indicated the desire to receive additional clinically relevant outside the scope of their children’s conditions (92.7%) and an interest in non-clinically relevant genetic information (82.7%). Conclusions: Most participants chose partnership, including its rights and potential burdens; however, active engagement in study activities remained the exception. Not surprisingly, the overwhelming majority of participants—both partners and traditional—expected to receive all genetic information resulting from the research study.