National Healthcare Quality and Disparities Report
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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
76 to 96 of 96 Research Studies DisplayedGallego 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)
Rodriguez M, Hogan PG, Satola SW
Discriminatory indices of typing methods for epidemiologic analysis of contemporary Staphylococcus aureus strains.
The researchers compared the discriminatory index of 5 typing methods for contemporary S. aureus strain characterization. They found that the typing methods yielded comparable discriminatory power for Aureus characterization overall; when discriminating among USA300 isolates, repetitive sequence-based PCR (repPCR) retained the highest discriminatory power.
AHRQ-funded; HS021736.
Citation: Rodriguez M, Hogan PG, Satola SW .
Discriminatory indices of typing methods for epidemiologic analysis of contemporary Staphylococcus aureus strains.
Medicine 2015 Sep;94(37):e1534. doi: 10.1097/md.0000000000001534..
Keywords: Research Methodologies, Genetics, Public Health
Duconge J, Cadilla CL, Seip RL
Why admixture matters in genetically-guided therapy: missed targets in the COAG and EU-PACT trials.
It is now well recognized that these commonly used pharmacogenetic algorithms perform poorly when applied to people with substantial African heritage. The authors of this letter conclude that the best approach for global pharmacogenetics is to guide warfarin dosing by using a pharmacogenetic-based algorithm that also accounts for the effect of admixture or ancestry proportions.
AHRQ-funded; HS022304.
Citation: Duconge J, Cadilla CL, Seip RL .
Why admixture matters in genetically-guided therapy: missed targets in the COAG and EU-PACT trials.
P R Health Sci J 2015 Sep;34(3):175-7..
Keywords: Racial and Ethnic Minorities, Genetics, Blood Thinners, Medication
Shaffer SM, Joshi RP, Chambers BS
Multiplexed detection of viral infections using rapid in situ RNA analysis on a chip.
The authors demonstrated that rapid RNA FISH is a viable alternative method to RT-PCR or ELISA. They concluded that their results established RNA FISH as a methodology with potential for viral point-of-care diagnostics.
AHRQ-funded; HS020939.
Citation: Shaffer SM, Joshi RP, Chambers BS .
Multiplexed detection of viral infections using rapid in situ RNA analysis on a chip.
Lab Chip 2015 Aug 7;15(15):3170-82. doi: 10.1039/c5lc00459d.
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Keywords: Genetics, Imaging, Infectious Diseases
Pardos de la Gandara M, Raygoza Garay JA, Mwangi M
Molecular types of methicillin-resistant staphylococcus aureus and methicillin-sensitive S. aureus strains causing skin and soft tissue infections and nasal colonization, identified in community health centers in New York City.
In November 2011, a research and learning collaborative project with six community health centers in the New York City metropolitan area was launched to determine the nature (clonal type) of community-acquired Staphylococcus aureus strains causing skin and soft tissue infections (SSTIs). It found that of 63 patients with S. aureus infections, 16 of the colonizing isolates were MRSA, and 14 were MSSA, and the majority of the colonizing isolates belonged to the USA300 clonal group.
AHRQ-funded; HS021667.
Citation: Pardos de la Gandara M, Raygoza Garay JA, Mwangi M .
Molecular types of methicillin-resistant staphylococcus aureus and methicillin-sensitive S. aureus strains causing skin and soft tissue infections and nasal colonization, identified in community health centers in New York City.
J Clin Microbiol 2015 Aug;53(8):2648-58. doi: 10.1128/jcm.00591-15..
Keywords: Community-Acquired Infections, Community Partnerships, Community-Based Practice, Genetics, Methicillin-Resistant Staphylococcus aureus (MRSA)
Roberts MC, Weinberger M, Dusetzina SB
Racial variation in adjuvant chemotherapy initiation among breast cancer patients receiving oncotype DX testing.
The researchers examined whether adjuvant chemotherapy initiation varied by race. No racial differences were found in adjuvant chemotherapy initiation among women receiving ODX testing. As treatment decision-making becomes increasingly targeted with the use of genetic technologies, these results provide evidence that test results may drive treatment in a similar way across racial subgroups.
AHRQ-funded; HS022189.
Citation: Roberts MC, Weinberger M, Dusetzina SB .
Racial variation in adjuvant chemotherapy initiation among breast cancer patients receiving oncotype DX testing.
Breast Cancer Res Treat 2015 Aug;153(1):191-200. doi: 10.1007/s10549-015-3518-9..
Keywords: Cancer: Breast Cancer, Treatments, Shared Decision Making, Genetics, Racial and Ethnic Minorities
Bennette CS, Gallego CJ, Burke W
The cost-effectiveness of returning incidental findings from next-generation genomic sequencing.
The researchers developed a decision-analytic policy model to project the quality-adjusted life-years and lifetime costs associated with returning ACMG-recommended incidental findings in three hypothetical cohorts of 10,000 patients. They found that returning incidental findings are likely cost-effective for certain patient populations. Screening of generally healthy individuals is likely not cost-effective based on current data.
AHRQ-funded; HS023340.
Citation: Bennette CS, Gallego CJ, Burke W .
The cost-effectiveness of returning incidental findings from next-generation genomic sequencing.
Genet Med 2015 Jul;17(7):587-95. doi: 10.1038/gim.2014.156..
Keywords: Healthcare Costs, Genetics, Shared Decision Making
Gallego CJ, Shirts BH, Bennette CS
Next-generation sequencing panels for the diagnosis of colorectal cancer and polyposis syndromes: a cost-effectiveness analysis.
The researchers evaluated the cost effectiveness of next-generation sequencing (NGS) panels for the diagnosis of colorectal cancer and polyposis (CRCP) syndromes in patients referred to cancer genetics clinics. They concluded that the use of an NGS panel that includes genes associated with highly penetrant CRCP syndromes in addition to Lynch syndrome genes as a first-line test is likely to provide meaningful clinical benefits in a cost-effective manner.
AHRQ-funded; HS021686.
Citation: Gallego CJ, Shirts BH, Bennette CS .
Next-generation sequencing panels for the diagnosis of colorectal cancer and polyposis syndromes: a cost-effectiveness analysis.
J Clin Oncol 2015 Jun 20;33(18):2084-91. doi: 10.1200/jco.2014.59.3665..
Keywords: Cancer, Cancer: Colorectal Cancer, Shared Decision Making, Diagnostic Safety and Quality, Genetics, Healthcare Costs, Screening
Lee BY, Schreiber B, Wateska AR
The Benin experience: how computational modeling can assist major vaccine policy changes in low and middle income countries.
The authors discuss some of the key steps and lessons learned in their Benin experience that helped computational modeling inform and lead to major policy change. The key steps are: engagement of Ministry of Health, identifying in-country “champions,” directed and efficient data collection, defining a finite set of realistic scenarios, making the study methodology transparent, presenting the results in a clear manner, and facilitating decision-making and advocacy.
AHRQ-funded; HS023317.
Citation: Lee BY, Schreiber B, Wateska AR .
The Benin experience: how computational modeling can assist major vaccine policy changes in low and middle income countries.
Vaccine 2015 Jun 9;33(25):2858-61. doi: 10.1016/j.vaccine.2015.04.022..
Keywords: Genetics, Policy, Vaccination
Carmody D, Lindauer KL, Naylor RN
Adolescent non-adherence reveals a genetic cause for diabetes.
Glucokinase related maturity-onset diabetes of the young (GCK-MODY) is frequently unrecognized or misdiagnosed as Type 1 or Type 2 diabetes, resulting in unnecessary pharmacologic therapy. The authors recommend considering a genetic cause when evaluating every person with new-onset hyperglycaemia or those with atypical diabetes. Testing costs for the most common MODY causing genes may be offset by savings made in therapeutic costs. They suggest that it is important that all clinicians supervising diabetes care recognize the cardinal features that distinguish GCK-MODY from other forms of diabetes.
AHRQ-funded; HS023007.
Citation: Carmody D, Lindauer KL, Naylor RN .
Adolescent non-adherence reveals a genetic cause for diabetes.
Diabet Med 2015 Jun;32(6):e20-3. doi: 10.1111/dme.12669.
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Keywords: Children/Adolescents, Diabetes, Diagnostic Safety and Quality, Genetics, Medication
Patel PA, Robicsek A, Grayes A
Evaluation of multiple real-time PCR tests on nasal samples in a large MRSA surveillance program.
The researchers evaluated the LightCycler MRSA Advanced Test (Roche Molecular Diagnostics, Pleasanton, CA), the BD MAX MRSA assay (Becton Dickinson, Franklin Lakes, NJ), and the Xpert MRSA assay (Cepheid, Sunnyvale, CA) on nasal samples using the same population. Their results suggest that the performance of the three commercial assays is similar.
AHRQ-funded; HS019968.
Citation: Patel PA, Robicsek A, Grayes A .
Evaluation of multiple real-time PCR tests on nasal samples in a large MRSA surveillance program.
Am J Clin Pathol 2015 May;143(5):652-8. doi: 10.1309/ajcpmdy32ztdxpfc..
Keywords: Methicillin-Resistant Staphylococcus aureus (MRSA), Healthcare-Associated Infections (HAIs), Patient Safety, Diagnostic Safety and Quality, Genetics
Dinan MA, Mi X, Reed SD
Initial trends in the use of the 21-gene recurrence score assay for patients with breast cancer in the Medicare population, 2005-2009.
The researchers examined trends in the use of the 21-gene recurrence score (RS) assay in routine clinical practice in a nationally representative sample of women with breast cancer. They found that the RS assay was adopted quickly in clinical practice after the Medicare coverage decision in 2006, and use appears to be consistent with guidelines and equitable across geographic and racial groups.
AHRQ-funded; HS022189.
Citation: Dinan MA, Mi X, Reed SD .
Initial trends in the use of the 21-gene recurrence score assay for patients with breast cancer in the Medicare population, 2005-2009.
JAMA Oncol 2015 May;1(2):158-66. doi: 10.1001/jamaoncol.2015.43..
Keywords: Cancer, Cancer: Breast Cancer, Genetics, Guidelines, Medicare, Practice Patterns, Women
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), Shared Decision Making, Medication, Genetics
Goyette P, Boucher G, Mallon D
High-density mapping of the MHC identifies a shared role for HLA-DRB1*01:03 in inflammatory bowel diseases and heterozygous advantage in ulcerative colitis.
Studies in inflammatory bowel diseases (IBD) have indicated that multiple independent associations exist at human leukocyte antigen (HLA) and non-HLA genes, but they have lacked the statistical power to define the architecture of association and causal alleles. To address this, the researchers performed high-density single nucleotide polymorphism (SNP) typing of the major histocompatibility complex in >32,000 individuals with IBD.
AHRQ-funded; HS021747.
Citation: Goyette P, Boucher G, Mallon D .
High-density mapping of the MHC identifies a shared role for HLA-DRB1*01:03 in inflammatory bowel diseases and heterozygous advantage in ulcerative colitis.
Nat Genet 2015 Feb;47(2):172-9. doi: 10.1038/ng.3176..
Keywords: Chronic Conditions, Genetics, Digestive Disease and Health
Lee K, Rossi C
AHRQ Author: Lee K
Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women.
L.M. is a 37-year-old nonsmoking woman who is not taking any medications and has no significant past medical problems. As breast cancer runs in her family, she is interested in genetic testing for breast cancer. This case study poses three multiple choice questions together with the U.S. Preventive Services Task Force recommendations and related background information.
AHRQ-authored.
Citation: Lee K, Rossi C .
Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women.
Am Fam Physician 2015 Jan 15;91(2):119-20.
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Keywords: Cancer, Cancer: Breast Cancer, Case Study, Family Health and History, Genetics, Prevention, Risk, Screening, U.S. Preventive Services Task Force (USPSTF), Women
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), Shared 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