A Rapid Review on the Value of Biobanks Containing Genetic Information

Increasing access to health data through biobanks containing genetic information has the potential to expand the knowledge base and thereby improve screening, diagnosis, and treatment options for many diseases. Nevertheless, although privacy concerns and risks surrounding genetic data sharing are well documented, direct evidence in favor of the hypothesized benefits of data integration is scarce, which complicates decision making in this area. Therefore, the objective of this study is to summarize the available evidence on the research and clinical impacts of biobanks containing genetic information, so as to better understand how to quantify the value of expanding genomic data access. Using a rapid review methodology, we performed a search of MEDLINE/PubMed and Embase databases; and websites of biobanks and genomic initiatives published from 2010 to 2022. We classified findings into 11 indicators including outputs (a direct product of the biobank activities) and outcomes (changes in scientific and clinical capacity). Of 8479 abstracts and 101 gray literature sources were reviewed, 96 records were included. Although most records did not report key indicators systematically, the available evidence concentrated on research indicators such as publications and gene-disorder association discoveries (63% of studies), followed by research infrastructure (26%), and clinical indicators (11%) such as supporting the diagnosis of individual patients. Existing evidence on the benefits of biobanks is skewed toward easily quantifiable research outputs. Measuring a comprehensive set of outputs and outcomes inspired by value frameworks is necessary to generate better evidence on the benefits of genomic data sharing. •Balancing the benefits of biobanks with their associated costs and privacy risks is needed to support biobanks sustainability and acceptability.•Greater data access and sharing through biobanks containing genetic information have succeeded in expanding the scientific knowledge base and affecting clinical practice and improving care.•The lack of systematic and intentional collection of outputs and outcomes resulting from biobank use demonstrates the need for the development of a value framework specifically tailored to biobanks containing genetic information, which could constitute the foundation for a comprehensive collection and standardized reporting of biobanks impact.