JMIR Publications

ABSTRACT

Background:

Research 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.

Objective:

To work towards a risk-utility data governance framework for research using genomic and phenotypic data in anonymised form for research in safe havens.

Methods:

We used a multi-faceted approach drawing upon: data governance arrangements in published research; case studies of organisations working with genomic and phenotypic data; public views and expectations; and example studies using genomic and phenotypic data in combination. The findings were contextualised against a backdrop of legislative and regulatory requirements and used to create recommendations.

Results:

We propose recommendations towards a risk-utility model with a flexible suite of controls to safeguard privacy and retain data utility for research. These are presented as overarching principles aligned to the core elements in the data sharing framework produced by the Global Alliance for Genomics and Health, and practical control measures distilled from published literature and case studies of operational safe havens to be applied as required at a project-specific level.

Conclusions:

The recommendations presented can be used to contribute towards 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 anonymised form for research in safe havens. Clinical Trial: N/A