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Exploring the Use of Genomic and Routinely Collected Data: Narrative Literature Review and Interview Study / Helen Daniels, Kerina Jones, Sharon Heys, David Ford
Journal of Medical Internet Research, Volume: 23, Issue: 9, Start page: e15739
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Background: Advancing the use of genomic data with routinely collected health data holds great promise for health care andresearch. Increasing the use of these data is a high priority to understand and address the causes of disease.Objective: This study aims to provide an outline of the use of genom...
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Background: Advancing the use of genomic data with routinely collected health data holds great promise for health care andresearch. Increasing the use of these data is a high priority to understand and address the causes of disease.Objective: This study aims to provide an outline of the use of genomic data alongside routinely collected data in health researchto date. As this field prepares to move forward, it is important to take stock of the current state of play in order to highlight newavenues for development, identify challenges, and ensure that adequate data governance models are in place for safe and sociallyacceptable progress.Methods: We conducted a literature review to draw information from past studies that have used genomic and routinely collecteddata and conducted interviews with individuals who use these data for health research. We collected data on the following: therationale of using genomic data in conjunction with routinely collected data, types of genomic and routinely collected data used,data sources, project approvals, governance and access models, and challenges encountered.Results: The main purpose of using genomic and routinely collected data was to conduct genome-wide and phenome-wideassociation studies. Routine data sources included electronic health records, disease and death registries, health insurance systems,and deprivation indices. The types of genomic data included polygenic risk scores, single nucleotide polymorphisms, and measuresof genetic activity, and biobanks generally provided these data. Although the literature search showed that biobanks released datato researchers, the case studies revealed a growing tendency for use within a data safe haven. Challenges of working with thesedata revolved around data collection, data storage, technical, and data privacy issues.Conclusions: Using genomic and routinely collected data holds great promise for progressing health research. Several challengesare involved, particularly in terms of privacy. Overcoming these barriers will ensure that the use of these data to progress healthresearch can be exploited to its full potential.
Swansea University Medical School