Toward a Risk-Utility Data Governance Framework for Research Using Genomic and Phenotypic Data in Safe Havens: Multifaceted Review.

David V Ford,Arron Lacey,Kerina Jones,Helen Daniels,Sharon Heys

doi:10.2196/16346

Abstract

BackgroundResearch using genomic data opens up new insights into health and disease. Being able to use the data in association with health and administrative record data held in safe havens can multiply the benefits. However, there is much discussion about the use of genomic data with perceptions of particular challenges in doing so safely and effectively.ObjectiveThis study aimed to work toward a risk-utility data governance framework for research using genomic and phenotypic data in an anonymized form for research in safe havens.MethodsWe carried out a multifaceted review drawing upon data governance arrangements in published research, case studies of organizations working with genomic and phenotypic data, public views and expectations, and example studies using genomic and phenotypic data in combination. The findings were contextualized against a backdrop of legislative and regulatory requirements and used to create recommendations.ResultsWe proposed recommendations toward a risk-utility model with a flexible suite of controls to safeguard privacy and retain data utility for research. These were presented as overarching principles aligned to the core elements in the data sharing framework produced by the Global Alliance for Genomics and Health and as practical control measures distilled from published literature and case studies of operational safe havens to be applied as required at a project-specific level.ConclusionsThe recommendations presented can be used to contribute toward a proportionate data governance framework to promote the safe, socially acceptable use of genomic and phenotypic data in safe havens. They do not purport to eradicate risk but propose case-by-case assessment with transparency and accountability. If the risks are adequately understood and mitigated, there should be no reason that linked genomic and phenotypic data should not be used in an anonymized form for research in safe havens.

Highlights

The use of genomic data to revolutionize health research and clinical care is a major expanding area of investigation and development
We proposed recommendations toward a risk-utility model with a flexible suite of controls to safeguard privacy and retain data utility for research. These were presented as overarching principles aligned to the core elements in the data sharing framework produced by the Global Alliance for Genomics and Health and as practical control measures distilled from published literature and case studies of operational safe havens to be applied as required at a project-specific level
The recommendations presented can be used to contribute toward a proportionate data governance framework to promote the safe, socially acceptable use of genomic and phenotypic data in safe havens

Summary

Introduction

Background The use of genomic data to revolutionize health research and clinical care is a major expanding area of investigation and development. Research using genomic data opens up new insights into health and disease to inform population health [1] and to develop precision medicine, namely, treatment based on a person’s biological constitution, lifestyle, and environment [2]. Being able to use genomic data in association with health and administrative record data can multiply the benefits by https://www.jmir.org/2020/5/e16346 XSLFO RenderX. 1 (page number not for citation purposes) including information such as comorbidities, medication histories, laboratory tests, education records, social issues, and lifestyle factors. This creates a more rounded and realistic picture to avoid genetic determinism and to ground phenotypically observed phenomena. There is much discussion about the use of genomic data with perceptions of particular challenges in doing so safely and effectively

Methods

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Discussion

Conclusion