Facilitating return of actionable genetic research results from a biobank repository: Participant uptake and utilization of digital interventions

Abstract

Research participants report interest in receiving genetic research results. How best to return results remains unclear. In this randomized pilot study, we sought to assess the feasibility of returning actionable research results through a two-step process including a patient-centered digital intervention as compared with a genetic counselor (GC) in the Penn Medicine biobank. In Step 1, participants with an actionable result and procedural controls (no actionable result) were invited to digital pre-disclosure education and provided options for opting out of results. In Step 2, those with actionable results who had not opted out were randomized to receive results via a digital disclosure intervention or with a GC. Five participants (2%) opted out of results after Step 1. After both steps, 52 of 113 (46.0%) eligible cases received results, 5 (4.4%) actively declined results, 34 (30.1%) passively declined, and 22 (19.5%) could not be reached. Receiving results was associated with younger age (p < 0.001), completing pre-disclosure education (p < 0.001), and being in the GC arm (p = 0.06). Being older, female, and of Black race were associated with being unable to reach. Older age and Black race were associated with passively declining. Forty-seven percent of those who received results did not have personal or family history to suggest the mutation, and 55.1% completed clinical confirmation testing. The use of digital tools may be acceptable to participants and could reduce costs of returning results. Low uptake, disparities in uptake, and barriers to confirmation testing will be important to address to realize the benefit of returning actionable research results.

Keywords: Actionable Genetic Findings; Biobank Repository; Digital Health Interventions; Genetic Counseling; Genetic Research Results; Genomic Data Utilization; Participant Uptake; Patient Engagement in Research; Precision Medicine; Return of Research Results.

Figure 1

Study CONSORT ^# Cases include BRCA2 (43), BRCA1 (13), TTR (24), LDLR (12), KCNQ1 (6), TNNI (5), PMS2 (5), DSP (4), MYH7 (4), FBN (3), MYBPC (3), LMNA (2), SDHC (2), MSH6 (1), PKP2 (1), RET (1), and SCN (1). ˆ Two web disclosures were completed by GC at participant request (8.7%). ∗14 (GC arm) and 10 (digital arm) were eligible for clinical follow-up. Four were excluded as they either did not have results confirmed (n = 3) or already had a clinical diagnosis and was connected with the clinical team (n = 1). In the GC arm, 3 declined clinic follow-up and 1 was not local. In the digital arm, 2 declined clinic follow-up and 2 were not local.

Figure 2

Outcomes among 113 participants contacted with actionable research results∗ ∗Excluding those with returned mail or we learned were deceased.