Abstract
Background
Advancing the use of genomic data with routinely collected health data holds great promise for health care and research. 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 research to date. As this field prepares to move 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 and socially acceptable progress.
Methods
We conducted a literature review to draw information from past studies that have used genomic and routinely collected data and conducted interviews with individuals who use these data for health research. We collected data on the following: the rationale 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-wide association 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 measures of genetic activity, and biobanks generally provided these data. Although 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 data collection, data storage, technical, and data privacy issues.
Conclusions
Using genomic and routinely collected data holds great promise for progressing health research. Several challenges are involved, particularly in terms of privacy. Overcoming these barriers will ensure that the use of these data to progress health research can be exploited to its full potential.
Reference80 articles.
1. HaydenEIs the $1,000 genome for real?Nature20142021-08-19https://www.nature.com/news/is-the-1-000-genome-for-real-14530
2. England TB rates fall by third since 2012BBC News20182021-08-19https://www.bbc.co.uk/news/health-43517246
3. Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization
4. Genome sequencing reveals how MRSA spreads
5. What is precision medicine?Genetics Home Reference20202021-08-19https://ghr.nlm.nih.gov/primer/precisionmedicine/definition
Cited by
8 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献