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P880: Facilitating return of genetic research results from a biobank repository: Participant uptake and utilization of digital interventions
Bradbury, Angela Wood, Elisabeth Phung, Lillian Egleston, Brian Ofidis, Demetrios Mim, Rajia Howe, Sarah Hoffman-Andrews, Lily Owens, Anjali Domchek, Susan
Bradbury, Angela
Wood, Elisabeth
Phung, Lillian
Egleston, Brian
Ofidis, Demetrios
Mim, Rajia
Howe, Sarah
Hoffman-Andrews, Lily
Owens, Anjali
Domchek, Susan
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2024-03-01
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https://doi.org/10.1016/j.gimo.2024.101794
Abstract
Introduction
Research participants have reported high interest in receiving genetic research results. However, how best to return results while honoring participants’ preferences and their right to refusal remains unclear. We sought to evaluate uptake of actionable genetic research results, factors associated with receipt of results (ROR) and willingness to complete pre-disclosure education and disclosure through a digital intervention among patients enrolled in the Penn Medicine Biobank.
Methods
A two-step method was used to contact biobank participants with an actionable genetic research result. In Step 1, we invited participants with an actionable result (cases) and procedural controls (no actionable result) to engage in digital pre-disclosure education and provided options for opting out of return of results. In Step 2, invited cases who had not opted out of ROR were randomized to ROR via a patient-centered digital disclosure intervention or with a genetic counselor (GC). Participants could opt-out of ROR or speak to a GC, regardless of arm. Clinical confirmation testing was offered after ROR. Participants completed surveys evaluating cognitive and affective patient-reported outcomes (PROs). Descriptive statistics with rank sum and Fisher’s exact tests were used for analyses.
Results
One hundred and thirty cases and 130 procedural controls were contacted. Participants were a mean age of 62.4 YO (SD 14.5), with 57.6% being male, 37.6% identifying as Black race and 3.2% as Hispanic. One hundred and twenty-five cases were randomized to digital disclosure or GC. After the Step 1 letter, 15.3% completed digital pre-disclosure education and 1.6% asked to speak with a GC. Completing digital pre-disclosure education was associated with receiving communication through the EHR (OR 5.0 vs US mail, p=0.011), while being Black was associated with not logging in (OR 2.9 for not logging in vs White, p=.033). Five participants (2%), including three cases, opted out of ROR after the Step 1 letter. All had viewed digital-education and provided their preference online. After the Step 2 letter (cases only), 41.6% of participants completed pre-disclosure education. Sixteen cases (34.0%) requested to speak with a GC for pre-disclosure education, five instead of completing digital education and 11 in addition to digital education. Completing pre-disclosure digital education among cases was associated with younger age (OR 1.06/year younger, p=0.005), whereas speaking with a GC for pre-disclosure education was less likely among Black participants (OR 0.15, p=0.033). Among those who received results, 90.4% completed pre-disclosure education. 46.0% of eligible cases received their research 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 (56.1 vs 65.9 YO, p<0.001), completing pre-disclosure education (77% vs 10%, p<0.001) and being randomized to the GC arm (p=0.06). Being older age (OR=1.13 per year, p=0.003), female (OR=7.57, p=0.012), and Black race (OR=8.48, p=0.018) were associated with being unable to reach. Older age (OR=1.09 per year, p=0.002) and Black race (OR=6.5, p=0.005) were associated with passively declining. There were no significant differences in change in affective or cognitive PROs between arms. Fifty-seven point one percent of participants completed clinical confirmation testing, and this did not differ by arm. Among the 52 actionable results returned, 46.9% had no personal or family history in the HER, suggesting they would be candidates for clinical testing in routine care.
Conclusion
Half of biobank participants elected to receive actionable genetic research results, and many completed pre-disclosure education or disclosure by a digital alternative, with favorable PROs supporting further investigation of digital alternatives. Some participants actively declined ROR and many passively declined or could not be reached. Understanding reasons for declining, barriers to re-contact and barriers to confirmation testing will be needed to ensure both equitable access to and clinical use of results.
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Citation
Angela Bradbury, Elisabeth Wood, Lillian Phung, Brian Egleston, Demetrios Ofidis, Rajia Mim, Sarah Howe, Lily Hoffman-Andrews, Anjali Owens, Susan Domchek, Reed Pyeritz, Bryson Katona, Staci Kallish, Giorgio Sirugo, Joellen Weaver, Katherine Nathanson, Daniel Rader,
P880: Facilitating return of genetic research results from a biobank repository: Participant uptake and utilization of digital interventions,
Genetics in Medicine Open,
Volume 2, Supplement 1,
2024,
101794,
ISSN 2949-7744,
https://doi.org/10.1016/j.gimo.2024.101794.
(https://www.sciencedirect.com/science/article/pii/S2949774424009403)
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Elsevier
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Genetics in Medicine Open, Vol. 2
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