Adolescent and Young Adult Perspectives on Receiving Pathogenic or Likely Pathogenic Results in a Prospective Genomic Screening Clinical Trial

INTRODUCTION: Professional societies recommend pediatric genetic testing only when results may impact medical management in childhood. However, with increasing access to genetic information in various settings, young people's responses to learning pathogenic or likely pathogenic (P/LP) genetic results remain understudied. METHODS: The Engaging Adolescents in Decisions about Return of Genomic Research Results clinical trial enrolled 483 adolescents and young adults (ages 13-21) who made decisions about whether to undergo prospective genomic screening to learn their personal results related to 32 sets of treatable, preventable, and adult-onset conditions and carrier traits. Participants (n=15) who received P/LP results were invited to participate in an interview at least three months after receiving their results. RESULTS: Eleven individuals (ages 14-19) participated in an interview. Most interviewees accurately recalled their P/LP results and reported satisfaction with learning personal genetic information, despite experiencing short-lived anxiety and confusion. While participants had knowledge of relevant risk reduction and screening measures, most viewed their genetic test results as a future consideration. Several participants' family members underwent cascade testing after learning the young person's results. Reactions to or risk-reducing behaviors taken since learning results did not differ between disease categories associated with the result. CONCLUSION: In support of a growing body of empirical research engaging young people in genetic testing decisions and outcomes, our findings suggest that young people who choose to learn genetic information about themselves understand the implications and potential actionability of P/LP results and actively incorporate results into their and family members' lives.