Utility of Genetic Testing from the Perspective of Parents/Caregivers: A Scoping Review

Abstract

In genomics, perceived and personal utility have been proposed as constructs of value that include the subjective meanings and uses of genetic testing. Precisely what constitutes these constructs of utility and how they vary by stakeholder perspective remains unresolved. To advance methods for measuring the value of genetic testing in child health, we conducted a scoping review of the literature to characterize utility from the perspective of parents/caregivers. Peer reviewed literature that included empiric findings from parents/caregivers who received genetic test results for an index child and was written in English from 2016–2020 was included. Identified concepts of utility were coded according to Kohler’s construct of personal utility. Of 2142 abstracts screened, 33 met inclusion criteria. Studies reflected a range of genetic test types; the majority of testing was pursued for children with developmental or neurodevelopmental concerns. Coding resulted in 15 elements of utility that mapped to Kohler’s four domains of personal utility (affective, cognitive, behavioural and social) and one additional medical management domain. An adapted construct of utility for parents/caregivers may enable specific and standardized strategies for researchers to use to generate evidence of the post-test value of genetic testing. In turn, this will contribute to emerging methods for health technology assessment and policy decision making for genomics in child health.

Perceived utility and disutility of genomic sequencing for pediatric patients: Perspectives from parents with diverse sociodemographic characteristics

“…Furthermore, while Kohler's definition of personal utility explicitly focused only on nonhealth related elements of perceived utility , our analysis indicates that healthcare management and access is an important area of perceived utility for parents. A 2021 review of perceived utility by Hayeems and colleagues did include aspects of "healthcare management" as a component of what they refer to as "patient-oriented" utility (Hayeems et al, 2021). However, their definition of this domain is focused on "clinician-directed" activities, and does not include impacts on parents' efforts to manage their child's disease, as described in our findings.…”

“…Much has been written in recent years about the psychological impacts of receiving results from genetic and genomic testing (e.g., Luksic et al, 2020;Parens & Appelbaum, 2019;Rosell et al, 2016;Werner-Lin et al, 2018), and on the concept of perceived utility in genetics and genomics specifically (e.g., Bunnik et al, 2015;Grosse et al, 2009;Grosse & Rasmussen, 2020;Hayeems et al, 2021;Kohler, Turbitt, Lewis, et al, 2017;Lupo et al, 2016;Mollison et al, 2020;Roberts et al, 2018;Tutty et al, 2021). Measures of perceived utility (also referred to as "personal" or "patient-oriented" utility) assess patients' subjective perceptions of both the health and nonhealth related impacts of a particular health intervention (Bunnik et al, 2015;Hayeems et al, 2021;. Scholars have increasingly called for a broader consideration of perceived utility, including utility that caregivers and other family members may derive from an individual patient's GS (Hayeems et al, 2021;Pollard et al, 2021;Prosser, 2018;Smith et al, 2021;Wittenberg & Prosser, 2016).…”

“…Measures of perceived utility (also referred to as "personal" or "patient-oriented" utility) assess patients' subjective perceptions of both the health and nonhealth related impacts of a particular health intervention (Bunnik et al, 2015;Hayeems et al, 2021;. Scholars have increasingly called for a broader consideration of perceived utility, including utility that caregivers and other family members may derive from an individual patient's GS (Hayeems et al, 2021;Pollard et al, 2021;Prosser, 2018;Smith et al, 2021;Wittenberg & Prosser, 2016).…”

“…The extant literature suggests a range of elements of perceived utility for parents of children undergoing GS, even when the results do not change their child's health outcomes. Examples include reduced anxiety, absolution of feelings of guilt for having caused their child's disease, information to inform family planning, and the relief of ending the diagnostic odyssey, among others (Hayeems et al, 2021;Mollison et al, 2020;Tutty et al, 2021). Studies that have included the perspectives of parents who received a nondiagnostic result from GS for their child also suggest some perceived utility related to ruling out certain conditions, giving parents confidence that they have done everything they could do to find a diagnosis for their child, and allowing families to pause the diagnostic odyssey and focus primarily on symptom management (Mollison et al, 2020;Rosell et al, 2016).…”

Assessing Value in Child Health

“…Challenges related to study design, costing, and measurement and valuation of health outcomes were delineated, and recommended approaches were presented. Finally, given the significant implications of genetic testing in children for family members, Hayeems et al's work acknowledged that the concept of value must extend well beyond the traditional measurement of costs and health outcomes [9]. Their review identified elements of parents' personal utility of genetic testing that were related to affective, cognitive, behavioral, social, and medical management domains.…”