Experiences of adolescents and their parents after receiving adolescents’ genomic screening results

Abstract

There has been considerable debate over whether adolescents should have the opportunity to learn genetic information about adult-onset disease risk and carrier status without a clinical indication. Adolescents face increasing opportunities to learn more about such genetic risks through the return of secondary findings from clinical genomic testing, direct-to-consumer genetic testing, and research opportunities.However, little is known about the perspectives of adolescents who have received genomic screening results. We conducted separate qualitative interviews with 15 adolescents and their parents who enrolled in a research protocol where they decided which genomic screening results to receive for the adolescent for up to 32 conditions informed by 84 genes. The goal of these interviews was to explore the impact of adolescents learning genomic results without a clinical indication for screening. Of the participating dyads, four received positive results for a pathogenic/likely pathogenic (P/LP) variant for an autosomal dominant (AD) condition, five received carrier results for a heterozygous P/LP variant for an autosomal recessive (AR) condition, and six received negative results. An interpretive descriptive qualitative approach was used. Interview transcripts were coded using a guide developed by the study team based on themes that emerged from the interviews. Degree of recall and description of results, actionability, and emotional responses differed according to the types of results received. However, all participants were satisfied with their decision to learn results, and most did not report any lasting psychological harms. Participants adapted to genomic information about themselves, even after learning about unexpected increased risk for future health problems. Our findings support the position that, whenever possible, perspectives and wishes of adolescents should be strongly considered and respected in the decision-making process regarding genetic testing.

Studying the impact of translational genomic research: Lessons from eMERGE

“…Shortly after its inception, eMERGE investigators began to consider returning individual research results to participants, 56 an issue that has persisted throughout the course of eMERGE. 8 , 12 , 20 , 24 , 27 , 35 , 57 , 58 , 59 At first these included incidental findings discovered during quality control checks, such as sex chromosome variants. 19 Over the course of eMERGE, interest in returning individual research results to participants grew.…”

“…Negative results were returned to participants at some sites, 64 , 65 , 66 and one site returned carrier status. 35 Sites also varied in whether they re-interpreted results over time in light of new information about clinical significance. 67 , 68 This variability complicated the study of outcomes.…”

“… 25 , 28 , 29 , 30 , 31 , 32 , 33 Adolescents are an important subset of the pediatric population and frequently want to be directly engaged in return of results and express their perspectives. 34 , 35 , 36 , 37 Moreover, many adolescents are capable of completing surveys themselves to reflect their own experience, 34 but enabling them to do so requires a separate set of surveys to collect pediatric data. Information about adults and children is thus often not entirely comparable.…”

Engaging Adolescents and Young Adults in Decisions About Return of Genomic Research Results: a mixed-methods longitudinal clinical trial protocol

“…While previous studies have begun or are poised to return genomic research results to pediatric populations (27,36,37), we believe this current study has unique factors that will contribute to supporting best practices and ethical considerations when engaging adolescents and young adults in genomic testing decisions. One of the strengths of our study is the electronic decision-making tool and its associated educational videos, which feature options for adolescents, young adults, and parents to make informed, customizable choices about learning genetic research results for the adolescent that are aligned with their values.…”

Young adults' reasoning for involving a parent in a genomic decision‐making research study

“…Previous research on decision‐making and parental involvement in the context of genomic research has generally focused on adolescents in the 13–17 year‐old age group without clinical indications for testing. These studies have explored the self‐perceived maturity and readiness of adolescents to make medical decisions for themselves (Hassett et al, 2018; Lillie et al, 2021; McGowan et al, 2018). Lillie et al (2021) conducted qualitative interviews with adolescents and their parents to investigate how learning the adolescents' genomic test results through a research study impacted their well‐being.…”