National Healthcare Quality and Disparities Report
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AHRQ Research Studies Date
Topics
- Adverse Drug Events (ADE) (1)
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- Alcohol Use (2)
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- Behavioral Health (1)
- Cancer (4)
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- (-) Genetics (15)
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- Methicillin-Resistant Staphylococcus aureus (MRSA) (1)
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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 15 of 15 Research Studies DisplayedDinan MA, Wilson LE, Reed SD
Association of 21-gene assay (OncotypeDX) testing and receipt of chemotherapy in the Medicare breast cancer patient population following initial adoption.
This study looked at trends in the association of 21-gene assay testing and receipt of chemotherapy in the Medicare breast cancer patient population following initial adoption from 2001 to 2011. The investigators looked at updated SEER-Medicare data from 2004 and 2011. The cohort included 26,009 patients who met inclusion criteria. Assay use was associated with a decrease in absolute percentage use of chemotherapy by 4.5%, which became even more pronounced from 2008-2011 with a decrease of 6.8%.
AHRQ-funded; HS022189.
Citation: Dinan MA, Wilson LE, Reed SD .
Association of 21-gene assay (OncotypeDX) testing and receipt of chemotherapy in the Medicare breast cancer patient population following initial adoption.
Clin Breast Cancer 2020 Dec;20(6):487-94.e1. doi: 10.1016/j.clbc.2020.05.010..
Keywords: Cancer: Breast Cancer, Cancer, Treatments, Genetics, Medicare, Women, Healthcare Utilization
Chen Y, Liang KY, Tong P
A pseudolikelihood approach for assessing genetic association in case-control studies with unmeasured population structure.
In this paper, researchers propose a novel statistical method to estimate the association between genetic markers and diseases in case-control studies with unmeasured population substructure. The performance of the proposed method, relative to the existing methods, on bias, coverage probability, and computational time, is assessed through simulations. The method is applied to an end-stage renal disease study in African Americans population.
AHRQ-funded; HS022900.
Citation: Chen Y, Liang KY, Tong P .
A pseudolikelihood approach for assessing genetic association in case-control studies with unmeasured population structure.
Stat Methods Med Res 2020 Nov;29(11):3153-65. doi: 10.1177/0962280220921212..
Keywords: Genetics, Research Methodologies
Griesemer I, Staley BS, Lightfoot AF
Engaging community stakeholders in research on best practices for clinical genomic sequencing.
This paper describes the NCGENES2 study which explored the impact of engagement between clinicians and caregivers of children with undiagnosed conditions in the context of a diagnostic genomic sequencing study. A Community Consult Team (CCT) was formed with diverse parents and advocates for children with genetic and/or neurodevelopmental conditions. Early and consistent engagement with the CCT resulted in adaptations to study protocols relevant to this unique study population.
AHRQ-funded; HS000032.
Citation: Griesemer I, Staley BS, Lightfoot AF .
Engaging community stakeholders in research on best practices for clinical genomic sequencing.
Per Med 2020 Nov;16(6):435-44. doi: 10.2217/pme-2020-0074..
Keywords: Children/Adolescents, Patient and Family Engagement, Genetics
Knerr S, West KM, Angelo FA
Organizational readiness to implement population-based screening and genetic service delivery for hereditary cancer prevention and control.
Programs conducting population-based screening and genetic service delivery for hereditary cancer prevention and control are rare in practice. The authors interviewed individuals instrumental in implementing seven unique clinical programs conducting either universal tumor screening for Lynch Syndrome or routine family history screening and provision of genetic services for hereditary breast and ovarian cancer in the United States. Their findings suggest that developing interventions targeting change efficacy and cultivating practice change champions may be two promising ways to increase uptake of population-based hereditary cancer screening and genetic service delivery in clinical practice.
AHRQ-funded; HS022982.
Citation: Knerr S, West KM, Angelo FA .
Organizational readiness to implement population-based screening and genetic service delivery for hereditary cancer prevention and control.
J Genet Couns 2020 Oct;29(5):867-76. doi: 10.1002/jgc4.1216.
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Keywords: Cancer, Screening, Genetics, Prevention, Guidelines, Healthcare Delivery, Organizational Change, Implementation
Feldman AG, Parsons JA, Dutmer CM
Subacute liver failure following gene replacement therapy for spinal muscular atrophy type 1.
This paper reports on two cases of transient, drug-induced liver failure after gene replacement therapy using an adeno-associated virus vector containing the survival motor neuron 1 gene.
AHRQ-funded; HS026510.
Citation: Feldman AG, Parsons JA, Dutmer CM .
Subacute liver failure following gene replacement therapy for spinal muscular atrophy type 1.
J Pediatr 2020 Oct;225:252-58.e1. doi: 10.1016/j.jpeds.2020.05.044..
Keywords: Newborns/Infants, Neurological Disorders, Genetics, Treatments, Adverse Drug Events (ADE), Adverse Events, Medication, Medication: Safety, Patient Safety, Case Study
Edwards RL, Heueck I, Lee SG
Potent, specific MEPicides for treatment of zoonotic staphylococci.
In this study, researchers demonstrated that fosmidomycin (FSM) inhibited the first step of the isoprenoid biosynthetic pathway catalyzed by deoxyxylulose phosphate reductoisomerase (DXR) in staphylococci. They synthesized a series of lipophilic ester prodrugs (termed MEPicides) structurally related to FSM, and their data indicated that the presence of the prodrug moiety not only substantially increased potency of the inhibitors against staphylococci but also bypassed the need for GlpT-mediated cellular transport. They concluded that their data indicated that the prodrug MEPicides selectively and robustly inhibited DXR in zoonotic staphylococci, and, further, that DXR represented a promising, druggable target for future development.
AHRQ-funded; HS021736; HS024269.
Citation: Edwards RL, Heueck I, Lee SG .
Potent, specific MEPicides for treatment of zoonotic staphylococci.
PLoS Pathog 2020 Jun;16(6):e1007806. doi: 10.1371/journal.ppat.1007806..
Keywords: Infectious Diseases, Antibiotics, Medication, Genetics
Johnson A, Broughton S, Aponte-Soto L
Participatory genomic testing can effectively disseminate cardiovascular pharmacogenomics concepts within federally qualified health centers: a feasibility study.
Researchers assessed feasibility of an educational program designed to enhance stakeholder knowledge and perceptions of pharmacogenomics at a federally qualified health center. Twenty providers and 10 community members were recruited for a feasibility study via convenience sampling. The researchers determined that a pharmacogenomics educational program tailored for an underrepresented community was feasible and acceptable; outcomes will advise methodology for larger implementation studies.
AHRQ-funded; HS019461.
Citation: Johnson A, Broughton S, Aponte-Soto L .
Participatory genomic testing can effectively disseminate cardiovascular pharmacogenomics concepts within federally qualified health centers: a feasibility study.
Ethn Dis 2020 Apr;30(Suppl 1):167-76. doi: 10.18865/ed.30.S1.167..
Keywords: Genetics, Cardiovascular Conditions, Community Partnerships, Health Literacy, Education: Patient and Caregiver
Mills J, Fakolade A
AHRQ Author: Mills J
Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer.
In this case study, a 31-year-old woman presents for a well-woman examination. She indicates that her mother was diagnosed with tubal cancer at age 40, that her 42-year-old sister was recently diagnosed with breast cancer, and that her maternal aunt was diagnosed with breast cancer at age 45.
AHRQ-authored.
Citation: Mills J, Fakolade A .
Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer.
Am Fam Physician 2020 Feb 15;101(4):239-40..
Keywords: U.S. Preventive Services Task Force (USPSTF), Cancer: Breast Cancer, Cancer, Genetics, Screening, Women, Prevention, Case Study
Ruaño Ruaño, Robinson S, Holford T
Results of the CYP-GUIDES randomized controlled trial: total cohort and primary endpoints.
CYP-GUIDES (Cytochrome Psychotropic Genotyping Under Investigation for Decision Support) was a randomized controlled trial (RCT) comparing 2 outcomes in hospitalized patients with major depressive disorder (MDD) treated according to the patient's CYP2D6 genotype and functional status versus standard psychotropic therapy. This paper describes the results of that study. The primary outcome was hospital Length of Stay (LOS) and the secondary outcome was the Re-Admission Rate (RAR) 30 days after discharge.
AHRQ-funded; HS022304.
Citation: Ruaño Ruaño, Robinson S, Holford T .
Results of the CYP-GUIDES randomized controlled trial: total cohort and primary endpoints.
Contemp Clin Trials 2020 Feb;89:105910. doi: 10.1016/j.cct.2019.105910..
Keywords: Depression, Behavioral Health, Genetics, Medication
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
Yang SK, Hong M, Baek J
A common missense variant in NUDT15 confers susceptibility to thiopurine-induced leukopenia.
The researchers identified and replicated a variant associated with substantially elevated risk of thiopurine-associated leukopenia diverse populations. Their approach identified a nonsynonymous and potentially damaging polymorphism in a gene involved in purine metabolism that demonstrated clinical usefulness for patients at risk of this potentially life-threatening condition.
AHRQ-funded; HS021747
Citation: Yang SK, Hong M, Baek J .
A common missense variant in NUDT15 confers susceptibility to thiopurine-induced leukopenia.
Nat Genet. 2014 Sep;46(9):1017-20. doi: 10.1038/ng.3060..
Keywords: Genetics, Medication, Racial and Ethnic Minorities
Jonas DE, Amick HR, Feltner C
Genetic polymorphisms and response to medications for alcohol use disorders: a systematic review and meta-analysis.
This review assessed whether response to medications for alcohol use disorders varies by genotype. It found that estimates of effect for return to heavy drinking suggest it is possible that patients with at least one G allele of A118G polymorphism of OPRM1 might be more likely to respond to naltrexone.
290201200008I; 29032002T
Citation: Jonas DE, Amick HR, Feltner C .
Genetic polymorphisms and response to medications for alcohol use disorders: a systematic review and meta-analysis.
Pharmacogenomics 2014 Sep;15(13):1687-700. doi: 10.2217/pgs.14.121..
Keywords: Medication, Alcohol Use, Substance Abuse, Genetics
Jonas DE, Amick HR, Feltner C
Genetic polymorphisms and response to medications for alcohol use disorders: a systematic review and meta-analysis.
This review assessed whether response to medications for alcohol use disorders varies by genotype. It found that estimates of effect for return to heavy drinking suggest it is possible that patients with at least one G allele of A118G polymorphism of OPRM1 might be more likely to respond to naltrexone.
290201200008I; 29032002T
Citation: Jonas DE, Amick HR, Feltner C .
Genetic polymorphisms and response to medications for alcohol use disorders: a systematic review and meta-analysis.
Pharmacogenomics 2014 Sep;15(13):1687-700. doi: 10.2217/pgs.14.121..
Keywords: Medication, Alcohol Use, Substance Abuse, Genetics
Patel PA, Schora DM, Peterson KE
Performance of the Cepheid Xpert(R) SA Nasal Complete PCR assay compared to culture for detection of methicillin-sensitive and methicillin-resistant Staphylococcus aureus colonization.
Conventional culture-based methods, including several chromogenic agars, are available for SA and MRSA surveillance but they can take several days and have reduced sensitivity compared to amplification assays. Overall, the Cepheid assay proved a rapid, sensitive, and clinically useful test for the early detection and differentiation of MRSA and MSSA colonization on patients.
AHRQ-funded; HS019968.
Citation: Patel PA, Schora DM, Peterson KE .
Performance of the Cepheid Xpert(R) SA Nasal Complete PCR assay compared to culture for detection of methicillin-sensitive and methicillin-resistant Staphylococcus aureus colonization.
Diagn Microbiol Infect Dis 2014 Sep;80(1):32-4. doi: 10.1016/j.diagmicrobio.2014.05.019..
Keywords: Diagnostic Safety and Quality, Genetics, Methicillin-Resistant Staphylococcus aureus (MRSA)
Nelson HD, Pappas M, Zakher B
Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: a systematic review to update the U.S. Preventive Services Task Force recommendation.
This systematic review was done in support of the U.S. Preventive Services Task Force (USPSTF) updated recommendation on the benefit and harms of risk assessment, genetic testing, and genetic counseling for BRCA-related cancer in women. A systematic review was done on literature from 2004 to July 30, 2013 from MEDLINE, PsycINFO, the Cochrane Central Register of Controlled Trials, Cochrane Database of Systematic Reviews, Health Technology Assessment, Scopus, and reference lists. Data on the participants, study design, analysis, follow-up, and results was extracted and a second investigator confirmed key data. The studies were rated on study quality and applicability. The analysis found women with high-risk for breast cancer had decreased risk of breast cancer by 85% to 100% by having a mastectomy, and risk of mortality by 81% to 100% compared to women without surgery. There was also a lower risk of breast and ovarian cancer after having salpingo-oopherectomy surgery.
AHRQ-funded; 290200710057
Citation: Nelson HD, Pappas M, Zakher B .
Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: a systematic review to update the U.S. Preventive Services Task Force recommendation.
Ann Intern Med 2014 Feb 18;160(4):255-66. doi: 10.7326/m13-1684..
Keywords: U.S. Preventive Services Task Force (USPSTF), Cancer: Breast Cancer, Cancer: Ovarian Cancer, Cancer, Genetics, Screening, Prevention, Guidelines, Evidence-Based Practice, Women, Risk, Family Health and History