CureGN Network's Return of Results Study: Participants' Experiences

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Background: Return of genetic results (RoR) from research has the potential to affect patient care. Understanding participants’ satisfaction with the RoR process and their decisions to share results with clinicians and family members can inform future RoR planning and increase the sharing of results. With the CureGN network, a large consortium that includes 60 sites in the US, we explored these issues. Methods: CureGN participants could receive three types of genetic results: diagnostic variants for kidney disease, APOL1 high-risk genotypes, and secondary findings in actionable genes per the ACMG guidelines (v3.0). The NIDDK funded the study: testing and genetic counseling before and after RoR were provided at no cost. After the RoR, adult participants and parents of pediatric participants were invited to a 60-minute remote interview. Interviews explored satisfaction, medical and psychosocial impacts of the genetic finding, sharing with family members and barriers to post-RoR care. We transcribed the transcripts verbatim, developed a codebook, and coded the de-identified transcripts. Results: We returned results to 23 participants, of which 15 completed an interview: two had diagnostic variants, 5 had APOL1 high risk genotypes, 8 had secondary findings, and one had both a diagnostic and a secondary finding. They resided in 12 different States, were women (n=11) and men (n=4); and self-reported being non-Hispanic White (n=7), Black/African American (n=4), Asian (n=1) and multi-racial (n=3). Interviewees indicated high satisfaction with the RoR process, including their re-contact, the genetic counseling sessions, and testing experience, but some were surprised by their secondary findings. Some offered suggestions of how to improve the RoR process. While only a few participants shared their results with family members or with their doctor, some indicated plans to discuss them with their clinicians in their next clinical visit. Communication barriers included family dynamics, lack of time and de-prioritization given other health concerns. Conclusion: The RoR across a large consortium was well received. Developing practices that promote discussion of results with clinicians and family members is necessary to maximize the impact of genetic results. Funding: NIDDK Support

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