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
1 to 16 of 16 Research Studies DisplayedWing SE, Hu H, Lopez L
Recall of genomic testing results among patients with cancer.
Genomic testing of somatic and germline DNA has transformed cancer care. However, low genetic knowledge among patients may compromise care and health outcomes. Given the rise in genomic testing, we sought to understand patients' knowledge of their genetic test results. The investigators conducted a survey-based study with 85 patients at a comprehensive cancer center and compared self-reported recall of (a) having had somatic/germline testing and (b) their specific somatic/germline results to the genomic test results documented in the medical record.
AHRQ-funded; HS024984.
Citation: Wing SE, Hu H, Lopez L .
Recall of genomic testing results among patients with cancer.
Oncologist 2021 Dec;26(12):e2302-e05. doi: 10.1002/onco.13928..
Keywords: Cancer, Genetics, Health Literacy
Golob JL, Rao K
Signal versus noise: how to analyze the microbiome and make progress on antimicrobial resistance.
This paper’s objective is to: 1) review the current thought on risk from antibiotic-resistant organization (ARO) acquisition; 2) review the current understanding on the gut microbiome’s ability to resist colonization with AROs; 3) describe how experimental model systems can test these global initial, global insights to arrive at more granular, mechanistic ones; and 4) suggest a path forward to make further progress in the field. This review is informed from experiences and successes with understanding of the role of the microbiome in mediating risk of Clostridioides difficile infection.
AHRQ-funded; HS027431.
Citation: Golob JL, Rao K .
Signal versus noise: how to analyze the microbiome and make progress on antimicrobial resistance.
J Infect Dis 2021 Jun 16;223(Suppl 3):S214-S21. doi: 10.1093/infdis/jiab184..
Keywords: Clostridium difficile Infections, Healthcare-Associated Infections (HAIs), Genetics
Arkhipova-Jenkins I, Helfand M, Armstrong C
Antibody response after SARS-CoV-2 infection and implications for immunity : a rapid living review.
This rapid literature review synthesizes evidence on the prevalence, levels, and durability of detectable antibodies after SARS-CoV-2 infection and whether the antibodies confer natural immunity. Seven databases were searched from January 1 to December 15, 2020, limited to peer-reviewed publications in English. Two investigators extracted study data and rated quality. Moderate-strength evidence suggested that most adults develop detectable levels of IgM and IgG antibodies after infection with SARS-CoV-2 and IgG levels peak approximately 25 days after symptom onset and can remain detectable for at least 120 days. Moderate-strength evidence suggested that IgM levels peak at approximately 20 days and then decline. There is low-strength evidence that most adults generate neutralizing antibodies. Reasons why some adults do not develop antibodies after SARS-CoV-2 are unclear.
AHRQ-funded; 290201700003C.
Citation: Arkhipova-Jenkins I, Helfand M, Armstrong C .
Antibody response after SARS-CoV-2 infection and implications for immunity : a rapid living review.
Ann Intern Med 2021 Jun;174(6):811-21. doi: 10.7326/m20-7547..
Keywords: COVID-19, Infectious Diseases, Genetics, Evidence-Based Practice
Staley BS, Milko LV, Waltz M
Evaluating the clinical utility of early exome sequencing in diverse pediatric outpatient populations in the North Carolina Clinical Genomic Evaluation of Next-generation Exome Sequencing (NCGENES) 2 study: a randomized controlled trial.
Exome sequencing (ES) has probable utility for shortening the diagnostic odyssey of children with suspected genetic disorders. This report described the design and methods of a study evaluating the potential of ES as a routine clinical tool for pediatric patients who have suspected genetic conditions and who are in the early stages of the diagnostic odyssey.
AHRQ-funded; HS000032.
Citation: Staley BS, Milko LV, Waltz M .
Evaluating the clinical utility of early exome sequencing in diverse pediatric outpatient populations in the North Carolina Clinical Genomic Evaluation of Next-generation Exome Sequencing (NCGENES) 2 study: a randomized controlled trial.
Trials 2021 Jun 14;22(1):395. doi: 10.1186/s13063-021-05341-2..
Keywords: Children/Adolescents, Genetics, Ambulatory Care and Surgery
Asti L, Hopley C, Avelis C
The potential clinical and economic value of a human papillomavirus primary screening test that additionally identifies genotypes 31, 45, 51, and 52 individually.
This study looked at the potential clinical and economic value of a human papillomavirus (HPV) primary screening test that additionally identified genotypes 31,45,51, and 52 along with genotypes 16 and 18. The authors developed a Markov model of the HPV disease course and evaluated the clinical and economic value of HPV primary screening with Onclarity. Currently HPV primary screening results in 25,194 invasive procedures and 48 invasive cervical cancer (ICC) cases per 100,000 women. Screening with extended genotyping and later screening women with certain genotypes averted 903 to 3163 invasive procedures and results in 0 to 3 more ICC cases compared with current primary screening tests. Extended genotyping was cost effective when costing $75 and cost saving when costing $43. When the probabilities of disease progression increased 2-4 times, it was not cost-effective because it resulted in more ICC cases and accrued fewer quality-adjusted life-years.
AHRQ-funded; HS023317.
Citation: Asti L, Hopley C, Avelis C .
The potential clinical and economic value of a human papillomavirus primary screening test that additionally identifies genotypes 31, 45, 51, and 52 individually.
Sex Transm Dis 2021 May;48(5):370-80. doi: 10.1097/olq.0000000000001327.
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Keywords: Sexual Health, Infectious Diseases, Screening, Diagnostic Safety and Quality, Genetics, Cancer: Cervical Cancer, Cancer, Women
Richardson JS, Kemper AR, Grosse SD
Health and economic outcomes of newborn screening for infantile-onset Pompe disease.
The authors sought to estimate health and economic outcomes associated with newborn screening for infantile-onset Pompe disease in the United States. They found that newborn screening for Pompe disease resulted in substantial health gains for individuals with infantile-onset Pompe disease, but with additional costs.
AHRQ-funded; HS020644.
Citation: Richardson JS, Kemper AR, Grosse SD .
Health and economic outcomes of newborn screening for infantile-onset Pompe disease.
Genet Med 2021 Apr;23(4):758-66. doi: 10.1038/s41436-020-01038-0..
Keywords: Newborns/Infants, Screening, Genetics
Lusczek ER, Ingraham NE, Karam BS
Characterizing COVID-19 clinical phenotypes and associated comorbidities and complication profiles.
The purpose of this retrospective analysis of COVID-19 patients was to identify specific clinical phenotypes across COVID-19 patients and to compare admission characteristics and outcomes. Investigators identified three clinical COVID-19 phenotypes, reflecting patient populations with different comorbidities, complications, and clinical outcomes. They recommended future research to determine the utility of these phenotypes in clinical practice and trial design.
AHRQ-funded; HS026379.
Citation: Lusczek ER, Ingraham NE, Karam BS .
Characterizing COVID-19 clinical phenotypes and associated comorbidities and complication profiles.
PLoS One 2021 Mar 31;16(3):e0248956. doi: 10.1371/journal.pone.0248956..
Keywords: COVID-19, Genetics
Ruaño G, Tortora J, Robinson S
Subanalysis of the CYP-GUIDES trial: CYP2D6 functional stratification and operational timeline selection.
CYP-GUIDES (Cytochrome Psychotropic Genotyping Under Investigation for Decision Support) was a Randomized Controlled Trial comparing 2 outcomes in hospitalized patients with major depressive disorder treated according to the patient's CYP2D6 genotype and functional status versus standard psychotropic therapy. In this paper, the authors described a subanalysis of the CYP-GUIDES trial. They concluded that there was an effect of pharmacogenetic clinical decision support that reduced length of stay in patients with CYP2D6 subfunctional status and reduced prescribing of CYP2D6 substrate dependent drugs.
AHRQ-funded; HS022304
Citation: Ruaño G, Tortora J, Robinson S .
Subanalysis of the CYP-GUIDES trial: CYP2D6 functional stratification and operational timeline selection.
Psychiatry Res 2021 Mar;297:113571. doi: 10.1016/j.psychres.2020.113571..
Keywords: Clinical Decision Support (CDS), Depression, Genetics, Medication, Behavioral Health
Hammad Mrig E
Integrating fundamental cause theory and Bourdieu to explain pathways between socioeconomic status and health: the case of health insurance denials for genetic testing.
This paper proposes that Pierre Bourdieu's theories of capital and symbolic power can be integrated with fundamental cause theory to address limitations in the latter theory, making it more useful in health disparities research. This work deepens appreciation for the durable relationship between socioeconomic status and health. Study results reveal the multiple and complex mechanisms that play a role in access to healthcare services, which has significant implications for how we think about the role of health policy in addressing health disparities.
AHRQ-funded; HS017589.
Citation: Hammad Mrig E .
Integrating fundamental cause theory and Bourdieu to explain pathways between socioeconomic status and health: the case of health insurance denials for genetic testing.
Sociol Health Illn 2021 Jan;43(1):133-48. doi: 10.1111/1467-9566.13195..
Keywords: Social Determinants of Health, Disparities, Health Insurance, Access to Care, Genetics, Policy
Fraiman YS, Wojcik MH
The influence of social determinants of health on the genetic diagnostic odyssey: who remains undiagnosed, why, and to what effect?
This review article synthesizes the available evidence regarding population disparities in genetic testing for pediatric rare disease diagnosis and identifies gaps in care. The influence of social determinants of health is known, but this study’s goal is to examine the prevalence and nature of disparities in diagnostic testing. It synthesizes the available evidence regarding disparities, defining the need for further, prospective studies.
AHRQ-funded; HS000063.
Citation: Fraiman YS, Wojcik MH .
The influence of social determinants of health on the genetic diagnostic odyssey: who remains undiagnosed, why, and to what effect?
Pediatr Res 2021 Jan;89(2):295-300. doi: 10.1038/s41390-020-01151-5..
Keywords: Children/Adolescents, Social Determinants of Health, Genetics, Diagnostic Safety and Quality, Screening, Disparities
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