2026 Theses Master's

Exploring Policies and Practices for Returning Genomic Results in Academic Medical Center Biobanks

Glass, Valerie; Pendrick, Danielle; Bergner, Amanda; Lynch, Noelle A.

Biobanks are foundational resources in genetics and precision medicine, enabling large-scale collection, storage, and analysis of biological samples and patient health information. Academic medical center (AMC)-based biobanks are uniquely positioned to bridge research and clinical care, making them critical contributors to translational research. While ethical considerations regarding genomic return of results (gRoR) from research studies utilizing biobank samples have been widely discussed, the specific policies and practices currently employed for gRoR remain poorly characterized. This lack of characterization limits understanding of how gRoR is operationalized in practice and the factors that influence its implementation across institutions.

We conducted a cross-sectional survey of AMC-based biobanks to explore their institutional characteristics, linkage of biospecimens to participant data, gRoR policies, types of results returned, implementation, workflows, and presence or absence of genetic counselor involvement. Data were analyzed using descriptive statistics, including frequencies and proportions, to characterize biobank practices. Open-ended responses were analyzed thematically to contextualize quantitative findings. Sixty-five AMC-based biobanks in the United States were identified and contacted. Responses from 25 (38.5%) AMC-based biobanks were included in the analysis, with 32% (n=8/25) reporting that they return genetic results to participants. All biobanks that returned results reported involvement of genetic counselors, whereas those that did not return results reported no genetic counselor involvement.

Additionally, all biobanks with gRoR reported using established guidelines, such as those from the American College of Medical Genetics and Genomics, to inform policy development. Despite usage of established guidelines, biobank gRoR policies varied in the types of results they return to participants. Biobanks that return genetic results cited cost of clinical confirmatory testing and lack of access to genetic counseling resources as the most common challenges they faced in implementation of their gRoR policies. Notably, many biobanks maintained linkage to identifiable participant data but did not return results, often citing a primarily research-oriented mission.

Findings suggest that genetic counselors are central to gRoR implementation, and highlight the complex interplay of practical and ethical challenges that complicate consistent implementation of gRoR across biobanks. The existence of cost and workforce barriers suggests that alternative models to gRoR may be considered to reduce barriers and promote long-term sustainability of gRoR practices. The persistence of biobanks maintaining participant data linkage without returning results underscores ongoing ethical and operational challenges at the intersection of research and clinical care. Although established guidelines provide a foundational framework for gRoR policies, variability in practice highlights the potential and need for biobank-specific guidance to support gRoR policy creation and implementation.

Keywords: Biobanks, Genomic return of results, Academic medical centers, genetic counselor