JMIR Publications

ABSTRACT

Background:

Background The advancing use of genomic data with routinely-collected health data holds great promise for healthcare and research. As this field moves forward, it is important to take stock of the current state of play in order to: highlight new avenues for development, identify challenges, and ensure that adequate data governance models are in place for safe, socially acceptable progress.

Objective:

Objective To provide an overview of the use of genomic data alongside routinely-collected data in health research, and to identify challenges and potential opportunities for future application.

Methods:

We used a case studies approach by: carrying out a literature review to draw evidence from past studies that have used genomic and routinely-collected data; and by conducting interviews with representatives of institutions that use these types of data for health research. Data were collected on the following: i) the rationale of using genomic data in conjunction with routinely-collected data ii) types of genomic and routinely-collected data used iii) data sources iv) project approvals v) governance and access models, and vi) challenges encountered.

Results:

The main purpose of using genomic and routinely-collected data were for conducting genome-wide or phenome-wide association studies. Routine data sources included EHRs, disease and death registries, health insurance systems, and deprivation indices. Types of genomic data included polygenic risk scores, single nucleotide polymorphisms and measures of genetic activity, and these data were generally provided by biobanks. While the literature search showed that biobanks released data to researchers, the case studies revealed a growing tendency for use within a data safe haven. Challenges of working with these data revolved around technical, regulatory, and public acceptability issues.

Conclusions:

Despite the great potential, there are still issues to be addressed in using genomic and routinely-collected data. It is imperative, therefore, that appropriate data governance is documented and that public engagement activities take place to ensure socially acceptable practice.