Expectation versus Reality: The Impact of Utility on Emotional Outcomes after Returning Individualized Genetic Research Results in Pediatric Rare Disease Research, a Qualitative Interview Study.

Cara N Cacioppo,Ingrid A Holm,Meghan C Towne,Ariel E Chandler,Alan H Beggs,Sheila Alexander

doi:10.1371/journal.pone.0153597

Abstract

PurposeMuch information on parental perspectives on the return of individual research results (IRR) in pediatric genomic research is based on hypothetical rather than actual IRR. Our aim was to understand how the expected utility to parents who received IRR on their child from a genetic research study compared to the actual utility of the IRR received.MethodsWe conducted individual telephone interviews with parents who received IRR on their child through participation in the Manton Center for Orphan Disease Research Gene Discovery Core (GDC) at Boston Children’s Hospital (BCH).ResultsFive themes emerged around the utility that parents expected and actually received from IRR: predictability, management, family planning, finding answers, and helping science and/or families. Parents expressing negative or mixed emotions after IRR return were those who did not receive the utility they expected from the IRR. Conversely, parents who expressed positive emotions were those who received as much or greater utility than expected.ConclusionsDiscrepancies between expected and actual utility of IRR affect the experiences of parents and families enrolled in genetic research studies. An informed consent process that fosters realistic expectations between researchers and participants may help to minimize any negative impact on parents and families.

Highlights

As genomic technology becomes widely used in research to uncover the genetic influences on health and disease, there is a growing recognition of the importance of returning clinically-relevant genetic results to participants
Discrepancies between expected and actual utility of Individual research result (IRR) affect the experiences of parents and families enrolled in genetic research studies
An informed consent process that fosters realistic expectations between researchers and participants may help to minimize any negative impact on parents and families

Summary

Introduction

As genomic technology becomes widely used in research to uncover the genetic influences on health and disease, there is a growing recognition of the importance of returning clinically-relevant genetic results to participants. Individual research result (IRR) return in genomic studies is a widely discussed topic [1,2,3], and it is clear that the promise of returning IRRs serves as an incentive for people to enroll in genetic research studies [4,5] and may persuade people who wish to gain personal benefit who otherwise would not participate [6] This is especially true in pediatrics when parents may be on a desperate search for answers regarding their child’s undiagnosed condition. Ethics, perceived risk, family dynamics, socio-demographic factors, and characteristics of the diseases (including severity and potential preventability) are all factors that motivate parents to enroll their children in research These factors guide how investigators return IRR, inside or outside of genetic research studies [7,8,9,10]. The discrepancies between expectations and the reality of the impact of results returned, especially for parents who have high expectations that the results may provide answers to their child’s condition, are unknown

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