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Search All Research Studies
Topics
- Behavioral Health (1)
- Clinical Decision Support (CDS) (2)
- Comparative Effectiveness (1)
- Data (1)
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- Electronic Health Records (EHRs) (3)
- Family Health and History (1)
- (-) Genetics (8)
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AHRQ Research Studies
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Research Studies is a compilation of published research articles funded by AHRQ or authored by AHRQ researchers.
Results
1 to 8 of 8 Research Studies DisplayedRuaño G, Holford T, Seip RL
Pharmacogenetic clinical decision support for psychiatric hospitalization: design of the CYP-GUIDES randomized controlled trial.
The CYP-GUIDES (Cytochrome Psychotropic Genotyping Under Investigation for Decision Support) trial aims to establish evidence for clinical pharmacogenetics in psychotropic prescription in severely depressed inpatients. This article describes the design of a Randomized Controlled Trial (RCT) of CYP2D6 genotype-guided versus standard care psychotropic prescription. The CYP-GUIDES trial will assess whether clinical prescribing guided by CYP2D6 functional status can improve the treatment of psychiatric inpatients, shorten the length of hospitalization, and reduce readmission.
AHRQ-funded; HS022304.
Citation: Ruaño G, Holford T, Seip RL .
Pharmacogenetic clinical decision support for psychiatric hospitalization: design of the CYP-GUIDES randomized controlled trial.
Contemp Clin Trials 2019 Aug;83:27-36. doi: 10.1016/j.cct.2019.06.008..
Keywords: Behavioral Health, Hospitalization, Clinical Decision Support (CDS), Health Information Technology (HIT), Genetics
Polubriaginof FCG, Vanguri R, Quinnies K
Disease heritability inferred from familial relationships reported in medical records.
Electronic health records (EHRs) passively capture a wide range of clinically relevant data and provide a resource for studying the heritability of traits that are not typically accessible. This study used EHR data to compute heritability estimates for 500 disease phenotypes. These analyses provided a validation of the use of EHRs for genetics and disease research.
AHRQ-funded; HS021816; HS022961.
Citation: Polubriaginof FCG, Vanguri R, Quinnies K .
Disease heritability inferred from familial relationships reported in medical records.
Cell 2018 Jun 14;173(7):1692-704.e11. doi: 10.1016/j.cell.2018.04.032..
Keywords: Data, Family Health and History, Genetics, Health Information Technology (HIT), Electronic Health Records (EHRs)
Liu Y, Chen Y, Scheet P
A meta-analytic framework for detection of genetic interactions.
The researchers propose a new procedure for detecting gene-by-gene interactions through heterogeneity in estimated low-order (e.g., marginal) effect sizes by leveraging population structure, or ancestral differences, among studies in which the same phenotypes were measured. They implement this approach in a meta-analytic framework, which offers numerous advantages, such as robustness and computational efficiency, and is necessary when data-sharing limitations restrict joint analysis.
AHRQ-funded; HS022900.
Citation: Liu Y, Chen Y, Scheet P .
A meta-analytic framework for detection of genetic interactions.
Genet Epidemiol 2016 Nov;40(7):534-43. doi: 10.1002/gepi.21996.
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Keywords: Genetics, Research Methodologies, Health Information Technology (HIT)
Cutting E, Banchero M, Beitelshees AL
User-centered design of multi-gene sequencing panel reports for clinicians.
The objective of this study was to develop a high-fidelity prototype for delivering multi-gene sequencing panel (GS) reports to clinicians that simulates the user experience of a final application. Findings illustrated a need to support customized notification approaches, user-specific information, and access to genetics specialists with GS reports. These design principles can be incorporated into software applications that deliver GS reports.
AHRQ-funded; R21 HS023390.
Citation: Cutting E, Banchero M, Beitelshees AL .
User-centered design of multi-gene sequencing panel reports for clinicians.
J Biomed Inform 2016 Oct;63:1-10. doi: 10.1016/j.jbi.2016.07.014.
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Keywords: Genetics, Health Information Technology (HIT), Healthcare Delivery
Kimberly RP, Rich SS, Cho JH
Characterization of genetic loci that affect susceptibility to inflammatory bowel diseases in African Americans.
The researchers performed a genetic mapping study using the Immunochip to determine whether inflammatory bowel disease (IBD) susceptibility loci in Caucasians also affect risk in African Americans (AAs) and identify new associated loci. In their analysis of 3,308 AA IBD cases and controls, they found that many variants associated with IBD in Caucasians also showed association evidence with these diseases in AAs.
AHRQ-funded; HS021747.
Citation: Kimberly RP, Rich SS, Cho JH .
Characterization of genetic loci that affect susceptibility to inflammatory bowel diseases in African Americans.
Gastroenterology 2015 Nov;149(6):1575-86. doi: 10.1053/j.gastro.2015.07.065..
Keywords: Racial and Ethnic Minorities, Genetics, Risk, Health Information Technology (HIT)
Gallego CJ, Burt A, Sundaresan AS
Penetrance of hemochromatosis in HFE genotypes resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network.
The researchers used the eMERGE Network, a multicenter cohort with genotype data linked to electronic medical records, to estimate the diagnostic rate and clinical penetrance of hereditary hemochromatosis ( HH in 98 individuals homozygous for the variant coding for HFE p.Cys282Tyr and 397 compound heterozygotes with variants resulting in p.[His63Asp];[Cys282Tyr].
AHRQ-funded; HS021686.
Citation: Gallego CJ, Burt A, Sundaresan AS .
Penetrance of hemochromatosis in HFE genotypes resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network.
Am J Hum Genet 2015 Oct 1;97(4):512-20. doi: 10.1016/j.ajhg.2015.08.008..
Keywords: Electronic Health Records (EHRs), Genetics, Health Information Technology (HIT)
Samwald M, Minarro Gimenez JA, Boyce RD
Pharmacogenomic knowledge representation, reasoning and genome-based clinical decision support based on OWL 2 DL ontologies.
The authors developed Web Ontology Language (OWL) ontologies and automated reasoning methodologies to meet various goals such as providing a simple and concise formalism for representing pharmacogenomic knowledge. Their ontology-based framework can be used to represent, organize and reason over the growing wealth of pharmacogenomic knowledge, as well as to identify errors, inconsistencies and insufficient definitions in source data sets or individual patient data.
AHRQ-funded; HS019461.
Citation: Samwald M, Minarro Gimenez JA, Boyce RD .
Pharmacogenomic knowledge representation, reasoning and genome-based clinical decision support based on OWL 2 DL ontologies.
BMC Med Inform Decis Mak 2015 Feb 22;15:12. doi: 10.1186/s12911-015-0130-1..
Keywords: Comparative Effectiveness, Health Information Technology (HIT), Decision Making, Medication, Genetics
Welch BM, Eilbeck K, Del Fiol G
Technical desiderata for the integration of genomic data with clinical decision support.
The objective of this study is to develop and validate a guiding set of technical desiderata for supporting the clinical use of the whole genome sequence (WGS) through clinical decision support (CDS). A panel of domain experts in genomics and CDS developed a proposed set of seven additional requirements. These additional desiderata provide important guiding principles for the technical development of CDS capabilities for the clinical use of WGS information.
AHRQ-funded; HS018352.
Citation: Welch BM, Eilbeck K, Del Fiol G .
Technical desiderata for the integration of genomic data with clinical decision support.
J Biomed Inform 2014 Oct;51:3-7. doi: 10.1016/j.jbi.2014.05.014..
Keywords: Clinical Decision Support (CDS), Health Information Technology (HIT), Genetics, Electronic Health Records (EHRs), Decision Making