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. 2018 Jan 30;10(1):e2.
doi: 10.2196/jopm.8958.

Participant-Partners in Genetic Research: An Exome Study with Families of Children with Unexplained Medical Conditions

Sara Huston Katsanis  1 , Mollie A Minear  1 , Azita Sadeghpour  2 , Heidi Cope  2 , Yezmin Perilla  2 , Robert Cook-Deegan  3 ; Duke Task Force For Neonatal Genomics  4 ; Nicholas Katsanis  2 , Erica E Davis  2 , Misha Angrist  1   5
Affiliations

Participant-Partners in Genetic Research: An Exome Study with Families of Children with Unexplained Medical Conditions

Sara Huston Katsanis et al. J Particip Med. .

Abstract

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.

Keywords: exome sequencing; genome sequencing; participant engagement; partnership; return of results.

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Conflict of interest statement

Conflicts of Interest: None declared.

Figures

Figure 1
Figure 1
The partnership model of interchange of information fosters long-term prospective communication of phenotype, genetic risk, and interpretation of research results.
Figure 2
Figure 2
Participants were asked to scale from 1-10, with 1 being “strongly agree” and 10 being “strongly disagree,” their (A) reasons for participating in the research project, plans to share research information, and (B) feelings about participating in research. The vertical line represents the mean (M) and the thick gray line the standard of deviation (SD).
Figure 3
Figure 3
Participants were asked their expectations for receiving information (A) related to their child’s condition and (B) unrelated to their child’s condition.
Figure 4
Figure 4
Participants were asked their desires for receiving information related to their child’s condition and for receiving their entire genome results.<.
See this image and copyright information in PMC

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