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Applying family analyses to electronic health records to facilitate genetic research.

ABSTRACT: Motivation:Pedigree analysis is a longstanding and powerful approach to gain insight into the underlying genetic factors in human health, but identifying, recruiting and genotyping families can be difficult, time consuming and costly. Development of high throughput methods to identify families and foster downstream analyses are necessary. Results:This paper describes simple methods that allowed us to identify 173?368 family pedigrees with high probability using basic demographic data available in most electronic health records (EHRs). We further developed and validate a novel statistical method that uses EHR data to identify families more likely to have a major genetic component to their diseases risk. Lastly, we showed that incorporating EHR-linked family data into genetic association testing may provide added power for genetic mapping without additional recruitment or genotyping. The totality of these results suggests that EHR-linked families can enable classical genetic analyses in a high-throughput manner. Availability and implementation:Pseudocode is provided as supplementary information. Contact:HEBBRING.SCOTT@marshfieldresearch.org. Supplementary information:Supplementary data are available at Bioinformatics online.

SUBMITTER: Huang X

PROVIDER: S-EPMC5860602 | biostudies-literature | 2018 Feb

REPOSITORIES: biostudies-literature

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Applying family analyses to electronic health records to facilitate genetic research.

Huang Xiayuan X Elston Robert C RC Rosa Guilherme J GJ Mayer John J Ye Zhan Z Kitchner Terrie T Brilliant Murray H MH Page David D Hebbring Scott J SJ

Bioinformatics (Oxford, England) 20180201 4

<h4>Motivation</h4>Pedigree analysis is a longstanding and powerful approach to gain insight into the underlying genetic factors in human health, but identifying, recruiting and genotyping families can be difficult, time consuming and costly. Development of high throughput methods to identify families and foster downstream analyses are necessary.<h4>Results</h4>This paper describes simple methods that allowed us to identify 173 368 family pedigrees with high probability using basic demographic d ...[more]

PMID: 28968884

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Project description:BackgroundEHR phenotyping offers the ability to rapidly assemble a precisely defined cohort of patients prescreened for eligibility to participate in health-related research. Even so, stakeholders in the process must still contend with the practical and ethical challenges associated with research recruitment. Patient perspectives on these matters are particularly important given that the success of research recruitment depends on patients' willingness to participate.MethodsWe conducted 15 focus groups (n =?110 participants) in four counties in diverse regions of the southeastern US: Appalachia, the Mississippi Delta, and the Piedmont area of North Carolina. Based on a hypothetical study of a behavioral intervention for type 2 diabetes, we asked about the acceptability and appropriateness of direct investigator versus physician-mediated contact with patients for research recruitment, and whether patients should be asked to opt in or opt out of further contact in response to recruitment letters.ResultsFor initial contact, nearly all participants said it would be acceptable for researchers to contact patients directly and three-fourths said that it would be acceptable for researchers to contact patients through their physicians. When we asked which would be most appropriate, a substantial majority chose direct contact. Themes that arose in the discussion included trust and transparency, decision-making power, the effect on research, and the effect on patient care. For response expectations, the vast majority of participants said both opt-in and opt-out would be acceptable-typically finding neither especially problematic and noting that both afford patients the opportunity to make their own decisions.ConclusionsExternal validity relies heavily on researchers' success enrolling eligible patients and failure to reach accrual targets is a costly and common barrier to advancing scientific knowledge. Our results suggest that patients recognize multiple advantages and disadvantages of different research recruitment strategies and place value on the implications not just for themselves, but also for researchers and healthcare providers. Our findings, including rich qualitative detail, contribute to the body of empirical and ethical literature on improving research recruitment and suggest specific ways forward as well as important areas for future research.

Dataset Information

Applying family analyses to electronic health records to facilitate genetic research.

Publications

Applying family analyses to electronic health records to facilitate genetic research.

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