Blumling, Amy A.

AbstractWith increasing opportunities for minors to undergo genomic testing, factors influencing young people's decision stability and instability regarding genomic testing are unclear. This interpretive description study examines decision stability when adolescents (13–17) and young adults (18–21) decide whether to learn genetic testing results. Adolescents and young adults enrolled in a clinical trial chose whether they wanted to learn genetic testing results and could modify their decisions during a study visit or 2 weeks later. A purposive sample of clinical trial participants was invited to participate in an interview exploring their decision preferences, confidence level, and factors impacting decision stability. Twenty‐two participants chose to learn all (n = 7), some (n = 7), or no genetic test results (n = 8). Perceptions of the impact of personal genetic information on one's quality of life and sense of reproductive goals and responsibilities were driving factors for people who chose to learn no or some genetic results, while curiosity influenced those who chose to learn all. Prior health and healthcare experiences and others' influence also factored into decision‐making about receiving results. Decision stability varied among individuals but increased over time and was positively influenced by parents, baseline decision confidence, and fear of missing out on the opportunity to learn genetic information. Participants felt favorably about the opportunity to change their decision 2 weeks after the study visit. Among study participants, decision stability was high, as was satisfaction with decisions regarding how much personal genetic information to learn. The results suggest that adolescent and young adult genetic research participants may experience high decision stability and confidence in making choices regarding personal genetic testing, especially when a window of opportunity for change is available. Researchers and clinicians should consider the benefits and challenges of offering multiple checkpoints to bolster decision stability.

AbstractYoung adults have increasing genomic testing opportunities; however, little is known about how equipped they feel about making decisions to learn personal genomic information. We conducted qualitative interviews with 19 young adults, ages 18–21 years old, enrolled in a research study where they made decisions about learning personal genomic risk for developing preventable, treatable, and adult‐onset conditions and carrier status for autosomal recessive conditions. Participants had the option to include a parent in their study visit and the decision‐making process. The goal of this project was to explore young adults' reasons for involving or not involving a parent in the study and to assess young adults' perspectives about parental roles in their healthcare. Nine participants included a parent in the study and ten did not include a parent. Eleven participants received genomic test results before the interview, while eight participants had not yet received their results at the time of the interview. The study team developed a coding guide and coded interview transcripts inductively and deductively using an interpretive descriptive‐analytic approach. Logistical issues dominated solo participants' reasons for not involving a parent in the study, whereas those who involved a parent often cited a close relationship with the parent and the parent's previous involvement in the participant's healthcare as reasons for involving them. Both groups of participants described gradually transitioning to independent healthcare decision‐making with age and felt their comfort in medical decision‐making depends on the severity of and their familiarity with the situation. Participants recommended that future genomic researchers or clinicians give young adults the option to involve a parent or friend as a support person in research or clinical visits. Although young adults may have different journeys toward independent healthcare decision‐making, some may benefit from continued parental or peer involvement after reaching the age of legal adulthood.

To understand whether they found a two-step decision process helpful and why, adolescent-parent dyads participating in a study investigating return of genomic testing results were asked about their decision-making experience. Responses were qualitatively coded and analyzed using thematic analysis. Adolescents and parents found both joint and independent decision-making stages helpful. Regarding independent decision-making, adolescents appreciated exercising independence, while parents valued both adolescent and parental independence. Joint decision-making allowed each to hear the other's viewpoints. Some found joint decision-making irrelevant but recognized it might help others. Overall, adolescents and parents had similar reasons for finding the two-step decision-making process helpful. Our findings support using such a process for engaging parents and adolescents in challenging research and clinical decisions.

Abstract Background To protect minors’ future autonomy, professional organizations have historically discouraged returning predictive adult-onset genetic test results and carrier status to children. Recent clinical guidance diverges from this norm, suggesting that when minors have genomic sequencing performed for clinical purposes, parents and children should have the opportunity to learn secondary findings, including for some adult-onset conditions. While parents can currently opt in or out of receiving their child’s secondary findings, the American Society of Human Genetics Workgroup on Pediatric Genetic and Genomic Testing suggests including adolescents in the decision-making process. However, it is not clear what factors young people consider when given the opportunity to learn genetic findings for themselves. We are examining adolescents’, young adults’, and parents’ (if applicable) decisions about learning genomic information for the adolescent. Methods We are enrolling assenting (ages 13–17) adolescents and consenting (ages 18–21) young adults in a prospective genomic screening study to assess the choices they make about receiving individual genomic results. Participants use an online tool to indicate whether they want to learn their personal genetic risk for specific preventable, treatable, and adult-onset conditions, as well as carrier status for autosomal recessive conditions. We are examining 1) how choices differ between adolescent and young adult cohorts (as well as between adolescents/young adults and parents) and 2) decisional conflict and stability across study timepoints. Results are returned based on participants’ choices. Qualitative interviews with a subset of participants explore decisional stability, adolescent/young adult engagement with parents in decision-making, and the impact of learning pathogenic/likely pathogenic and carrier results. Discussion This study explores decision making and decision stability between adolescents and parents (where applicable), as well as the ethical implications and impact of return of clinical-grade genetic research results to adolescents and young adults. The results of this study will contribute empirical evidence to support best practices and guidance on engaging young people in genetic research studies and clinical care that offer return of results. Trial Registration: ClinicalTrials.gov Identifier: NCT04481061. Registered 22 July 2020.

Purpose: The electronic Medical Records and Genomics (eMERGE) Phase III study was undertaken to assess clinical utility of returning medically actionable genomic screening results. We assessed pediatric clinical outcomes following return of pathogenic/likely pathogenic (P/LP) variants in autosomal dominant conditions with available effective interventions. Methods: The two eMERGE III pediatric sites collected outcome data and assessed changes in medical management at 6 and 12 months. Results: We returned P/LP results to 29 participants with outcome data. For 23 of the 29 participants, the P/LP results were previously unknown. Five of the 23 participants were already followed for conditions related to the P/LP variant. Of those receiving novel results and not being followed for the condition related to the P/LP result (n = 18), 14 (77.8%) had a change in healthcare after return of results (RoR). Following RoR, cascade testing of family members occurred for 10 of 23 (43.5%). Conclusions: The most common outcomes post-RoR included imaging/laboratory testing and health behavior recommendations. A change in healthcare was documented in 77.8% of those receiving results by 6 months. Our findings demonstrate how return of genomic screening results impacts healthcare in pediatric populations.