Large-scale multi-ethnic cohorts offer unprecedented opportunities to elucidate the genetic factors influencing complex traits related to health and disease among minority populations. At the same time, the genetic diversity in these cohorts presents new challenges for analysis and interpretation. We consider the utility of race and/or ethnicity categories in genome-wide association studies (GWASs) of multi-ethnic cohorts. We demonstrate that race/ethnicity information enhances the ability to understand population-specific genetic architecture. To address the practical issue that self-identified racial/ethnic information may be incomplete, we propose a machine learning algorithm that produces a surrogate variable, termed HARE. We use height as a model trait to demonstrate the utility of HARE and ethnicity-specific GWASs.
In this proof-of-concept study, we demonstrated application of the PheWAS using large EHR biobanks to inform drug effects. The findings of an association of the IL6R SNP with reduced risk for aortic aneurysms correspond with the newest indication for IL6R blockade, giant cell arteritis, of which a major complication is aortic aneurysm.
Objectives: The US Department of Veterans Affairs' Suicide Prevention Applications Network (SPAN) is a national system for suicide event tracking and case management. The objective of this study was to assess data on suicide attempts among people using Veterans Health Administration (VHA) services.
Methods:We assessed the degree of data overlap on suicide attempters reported in SPAN and the VHA's medical records from October 1, 2010, to September 30, 2014-overall, by year, and by region. Data on suicide attempters in the VHA's medical records consisted of diagnoses documented with E95 codes from the International Classification of Diseases, Ninth Revision. Results: Of 50 518 VHA patients who attempted suicide during the 4-year study period, data on fewer than half (41%) were reported in both SPAN and the medical records; nearly 65% of patients whose suicide attempt was recorded in SPAN had no data on attempted suicide in the VHA's medical records.
Conclusion:Evaluation of administrative data suggests that use of SPAN substantially increases the collection of data on suicide attempters as compared with the use of medical records alone, but neither SPAN nor the VHA's medical records identify all suicide attempters. Further research is needed to better understand the strengths and limitations of both systems and how to best combine information across systems.
Keywords veterans, suicide, preventionEffective surveillance systems are the cornerstone of public health: they (1) inform the development of prevention strategies tailored to the characteristics and needs of established or newly emerging high-risk populations and (2) evaluate the impact of newly implemented programs. The 2012 National Strategy for Suicide Prevention and the resulting research agenda emphasized a need for improved data to inform suicide prevention.
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