As the federal government continues to expand upon and improve its data sharing policies over the past 20 years, complex challenges remain. Our interviews with U.S. academic genetic researchers (n=23) found that the burden, translation, industry limitations, and consent structure of data sharing remain major governance challenges.

The expanded use of genetic testing raises key ethical and policy questions about possible benefits and harms for those receiving disease‐risk information. As predictive testing for Huntington’s was initiated in a clinical setting, survey research posing hypothetical test scenarios suggested that the vast majority of at‐risk relatives wanted to know whether they carried a disease‐causing mutation. However, only a small minority ultimately availed themselves of this opportunity. Many at‐risk individuals concluded that a positive test result would be too psychologically overwhelming. (...) A substantial literature suggests that individuals are often more resilient than anticipated in coping with many different health‐related stresses. Much of my own work in the field has been through the Risk Evaluation & Education for Alzheimer’s Disease study (REVEAL), a series of randomized clinical trials assessing the impact of genetic susceptibility testing on asymptomatic individuals at risk for Alzheimer’s disease. Our experience in developing and implementing four successive, multisite trials provides some potentially useful lessons for the field. More people will be asking for their personal genetic information. Better understanding will help us decide when access is appropriate and how best to disclose results in a manner that supports adjustment to test findings and promotes use of genetic information to improve human health. (shrink)

Background Despite major shifts in U.S. federal government data sharing requirements, their impact, and relation to researcher choice of database, are underexplored. This study surveyed genetic researchers regarding trends, priorities, perceptions of quality, impact on research outcomes, and genomic data sharing and use across government, consortium, and private databases.Methods As part of an exploratory sequential mixed methods project, we surveyed 294 U.S.-based genomic academic researchers.Results Genetic researchers generally have a choice between databases, which allows them to prioritize data quality. This (...) might explain recent trends toward the use of government and consortium databases away from private ones. Respondents reported several significant differences in the requirements that different data stewards place on them, which impact their work. Private data stewards generally had the most restrictions and were the least likely to allow users to release the full dataset at completion, despite over 50% of respondents reporting the use of federal funds for such research. Our findings indicate that upstream benefits (i.e., access, database features) are more impactful on researchers’ choice in databases than downstream publication limitations (e.g., co-authorship, limited data release). Respondents also reported the time necessary to share data as the biggest barrier to contributing to government databases and non-comprehensiveness as the biggest challenge to using existing government data.Conclusions The federal government can leverage these findings about researcher priorities to continue attracting researchers, to push forward goals related to open science and enabling advances for patients underrepresented in genetic research, and to found new genomic data sharing policy moving forward. (shrink)