National Healthcare Quality and Disparities Report
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AHRQ Research Studies Date
Topics
- Alcohol Use (2)
- Arthritis (1)
- Cancer (3)
- Cancer: Breast Cancer (3)
- Cancer: Ovarian Cancer (1)
- Centers for Education and Research on Therapeutics (CERTs) (1)
- Chronic Conditions (1)
- Clinical Decision Support (CDS) (1)
- Clinician-Patient Communication (1)
- Communication (1)
- Data (1)
- Diabetes (3)
- Diagnostic Safety and Quality (3)
- Digestive Disease and Health (4)
- Electronic Health Records (EHRs) (2)
- Evidence-Based Practice (3)
- Family Health and History (2)
- (-) Genetics (23)
- Guidelines (1)
- Healthcare Delivery (1)
- Health Information Technology (HIT) (3)
- Hepatitis (1)
- Medication (4)
- Methicillin-Resistant Staphylococcus aureus (MRSA) (1)
- Neurological Disorders (2)
- Obesity (1)
- Patient-Centered Healthcare (2)
- Patient and Family Engagement (1)
- Prevention (1)
- Racial and Ethnic Minorities (3)
- Registries (1)
- Research Methodologies (1)
- Risk (6)
- Screening (1)
- Shared Decision Making (3)
- Stress (1)
- Substance Abuse (2)
- Treatments (1)
- U.S. Preventive Services Task Force (USPSTF) (1)
- Women (2)
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 23 of 23 Research Studies DisplayedLiu 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)
Biermacka JM, Chung SJ, Amasu SM
Genome-wide gene-environment interaction analysis of pesticide exposure and risk of Parkinson's disease.
The researchers performed the first genome-wide gene-environment interaction analysis of pesticide exposure and risk of Parkinson's disease (PD). They concluded that although no significant interactions were identified, several of the genes with suggestive evidence of gene-environment interaction effects have biological plausibility for PD risk.
AHRQ-funded; HS024057.
Citation: Biermacka JM, Chung SJ, Amasu SM .
Genome-wide gene-environment interaction analysis of pesticide exposure and risk of Parkinson's disease.
Parkinsonism Relat Disord 2016 Nov;32:25-30. doi: 10.1016/j.parkreldis.2016.08.002.
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Keywords: Genetics, Risk, Neurological Disorders
Chuang LS, Villaverde N, Hui KY
A frameshift in CSF2RB predominant among Ashkenazi Jews increases risk for Crohn's disease and reduces monocyte signaling via GM-CSF.
The authors sought to identify rare, Crohn's disease-associated frameshift variants of high functional and statistical effects. They associated Crohn's disease with a frameshift mutation in CSF2RB. Intestinal monocytes from carriers of this mutation had reduced responses to granulocyte-macrophage colony-stimulating factor.
AHRQ-funded; HS021747.
Citation: Chuang LS, Villaverde N, Hui KY .
A frameshift in CSF2RB predominant among Ashkenazi Jews increases risk for Crohn's disease and reduces monocyte signaling via GM-CSF.
Gastroenterology 2016 Oct;151(4):710-23.e2. doi: 10.1053/j.gastro.2016.06.045.
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Keywords: Digestive Disease and Health, Genetics, Risk, Racial and Ethnic Minorities
Li D, Achkar JP, Haritunians T
A pleiotropic missense variant in SLC39A8 is associated with crohn's disease and human gut microbiome composition.
This study aimed to identify novel associations between inflammatory bowel disease (IBD) and functional genetic variants. The results suggest that an SLC39A8-dependent shift in the gut microbiome could explain its pleiotropic effects on multiple complex diseases including Crohn's disease.
AHRQ-funded; HS021747.
Citation: Li D, Achkar JP, Haritunians T .
A pleiotropic missense variant in SLC39A8 is associated with crohn's disease and human gut microbiome composition.
Gastroenterology 2016 Oct;151(4):724-32. doi: 10.1053/j.gastro.2016.06.051.
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Keywords: Digestive Disease and Health, Genetics, Risk
Carmody D, Naylor RN, Bell CD
GCK-MODY in the US National Monogenic Diabetes Registry: frequently misdiagnosed and unnecessarily treated.
GCK-MODY (diabetes caused by mutations in the glucokinase (GCK) gene) leads to mildly elevated blood glucose typically not requiring therapy. It has been described in all ethnicities, but mainly in Caucasian Europeans. The researchers describe our US cohort of GCK-MODY. Their data show that a high detection rate of GCK-MODY is possible based on clinical phenotype and that prior to genetic diagnosis, a large percentage are inappropriately treated with glucose-lowering therapies.
AHRQ-funded; HS023007.
Citation: Carmody D, Naylor RN, Bell CD .
GCK-MODY in the US National Monogenic Diabetes Registry: frequently misdiagnosed and unnecessarily treated.
Acta Diabetol 2016 Oct;53(5):703-8. doi: 10.1007/s00592-016-0859-8.
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Keywords: Diabetes, Registries, Diagnostic Safety and Quality, Genetics
Kopylov U, Boucher G, Waterman M
Genetic predictors of benign course of ulcerative colitis - a North American inflammatory bowel disease genetics consortium study.
The aim of this project was to identify the genetic predictors of benign ulcerative colitis (UC) phenotype. No single-nucleotide polymorphisms from inflammatory bowel disease susceptibility loci were found to be associated with a benign UC disease course. These findings suggested on the exploratory analysis merit extension to larger discovery cohorts.
AHRQ-funded; HS021747.
Citation: Kopylov U, Boucher G, Waterman M .
Genetic predictors of benign course of ulcerative colitis - a North American inflammatory bowel disease genetics consortium study.
Inflamm Bowel Dis 2016 Oct;22(10):2311-6. doi: 10.1097/mib.0000000000000913.
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Keywords: Diabetes, Diagnostic Safety and Quality, Genetics
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
Guerrerio AL, Frischmeyer-Guerrerio PA, Huang C
Increased prevalence of inflammatory bowel disease in patients with mutations in genes encoding the receptor subunits for TGFbeta.
The researchers evaluated the potential genetic risk factors that could predict which patients with Loeys-Dietz syndrome (LDS) would develop inflammatory bowel disease (IBD). They reported a 10-fold increase in the prevalence of IBD in patients with LDS compared with the general population.
AHRQ-funded; HS021747.
Citation: Guerrerio AL, Frischmeyer-Guerrerio PA, Huang C .
Increased prevalence of inflammatory bowel disease in patients with mutations in genes encoding the receptor subunits for TGFbeta.
Inflamm Bowel Dis 2016 Sep;22(9):2058-62. doi: 10.1097/mib.0000000000000872.
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Keywords: Digestive Disease and Health, Genetics, Risk
Sieberts SK, Zhu F, Garcia-Garcia J
Crowdsourced assessment of common genetic contribution to predicting anti-TNF treatment response in rheumatoid arthritis.
A rigorous community-based assessment of the utility of SNP data for predicting anti-TNF treatment efficacy in RA patients was performed in the context of an open challenge framework which enabled the comparative evaluation of predictions developed by 73 research groups using the most comprehensive available data and covering a wide range of state-of-the-art modelling methodologies.
AHRQ-funded; HS018517.
Citation: Sieberts SK, Zhu F, Garcia-Garcia J .
Crowdsourced assessment of common genetic contribution to predicting anti-TNF treatment response in rheumatoid arthritis.
Nat Commun 2016 Aug 23;7:12460. doi: 10.1038/ncomms12460..
Keywords: Genetics, Arthritis
Richesson RL, Sun J, Pathak J
Clinical phenotyping in selected national networks: demonstrating the need for high-throughput, portable, and computational methods.
The authors sought to use electronic health records data to advance understanding of disease risk and drug response, and to support the practice of precision medicine on a national scale. They found that machine learning approaches that generate phenotype definitions from patient features and clinical profiles will result in truly computational phenotypes, as it comes from data rather than experts. They suggested that research networks and phenotype developers cooperate to develop methods, collaboration platforms, and data standards that will enable computational phenotyping and modernize biomedical research.
AHRQ-funded; HS023921; HS023077.
Citation: Richesson RL, Sun J, Pathak J .
Clinical phenotyping in selected national networks: demonstrating the need for high-throughput, portable, and computational methods.
Artif Intell Med 2016 Jul;71:57-61. doi: 10.1016/j.artmed.2016.05.005.
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Keywords: Data, Electronic Health Records (EHRs), Genetics, Patient-Centered Healthcare
Roberts MC, Bryson A, Weinberger M
Patient-centered communication for discussing oncotype DX testing.
The researchers identified patient-centered communication strategies/gaps for discussing Oncotype DX testing (ODX) results. They applied a patient-centered communication framework to analyze qualitative interviews with oncologists about how they communicate about ODX with patients. Overall, providers discussed four patient-centered communication domains: exchanging information, assessing uncertainty, making decisions and cross-cutting themes.
AHRQ-funded; HS019468; HS022189.
Citation: Roberts MC, Bryson A, Weinberger M .
Patient-centered communication for discussing oncotype DX testing.
Cancer Invest 2016 May 27;34(5):205-12. doi: 10.3109/07357907.2016.1172637.
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Keywords: Cancer, Cancer: Breast Cancer, Communication, Clinician-Patient Communication, Shared Decision Making, Genetics, Patient and Family Engagement, Patient-Centered Healthcare, Women
Williams RC, Elston RC, Kumar P
Selecting SNPs informative for African, American Indian and European Ancestry: application to the Family Investigation of Nephropathy and Diabetes (FIND).
The researchers studied individual genetic ancestry (IGA) in four samples in the Family Investigation of Nephropathy and Diabetes (FIND). They found that the identified set of ancestry informtive markers (AIMs) may be particularly useful for estimating genetic admixture in populations from the Americas. They concluded that odds ratios for the associations of IGA with disease are consistent with what is known about the incidence and prevalence of diabetic nephropathy in these populations.
AHRQ-funded; HS008365.
Citation: Williams RC, Elston RC, Kumar P .
Selecting SNPs informative for African, American Indian and European Ancestry: application to the Family Investigation of Nephropathy and Diabetes (FIND).
BMC Genomics 2016 May 4;17:325. doi: 10.1186/s12864-016-2654-x.
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Keywords: Diabetes, Family Health and History, Genetics, Neurological Disorders, Racial and Ethnic Minorities
Mathur MB, Epel E, Kind S
Perceived stress and telomere length: a systematic review, meta-analysis, and methodologic considerations for advancing the field.
The researchers conducted a systematic review and meta-analysis to determine the association between self-reported, perceived psychological stress (PS) and telomere length (TL). They found that increased PS was associated with a very small decrease in TL and that this relationship was similar between sexes. They concluded that the association may be stronger with known major stressors and is similar in magnitude to that noted between obesity and TL. The authors recommended that futre research assess for potential confounders and use longitudinal, multidimensional models of stress.
AHRQ-funded; HS019816.
Citation: Mathur MB, Epel E, Kind S .
Perceived stress and telomere length: a systematic review, meta-analysis, and methodologic considerations for advancing the field.
Brain Behav Immun 2016 May;54:158-69. doi: 10.1016/j.bbi.2016.02.002.
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Keywords: Evidence-Based Practice, Genetics, Stress
Ali M, Yopp A, Gopal P
A variant in PNPLA3 associated with fibrosis progression but not hepatocellular carcinoma in patients with hepatitis C virus infection.
This study evaluated the association between single nucleotide polymorphism (SNP) in PNPLA3 and fibrosis progression and development of hepatocellular carcinoma (HCC) among HCV-infected patients. The authors performed a secondary analysis of data from participants in the Hepatitis C Antiviral Long-Term Treatment against Cirrhosis (HALT-C) trial. They concluded that, based on data from the HALT-C trial, the PNPLA3 CG/GG SNP at rs738409 is associated with fibrosis progression but not development of HCC in patients with HCV infection.
AHRQ-funded; HS022418.
Citation: Ali M, Yopp A, Gopal P .
A variant in PNPLA3 associated with fibrosis progression but not hepatocellular carcinoma in patients with hepatitis C virus infection.
Clin Gastroenterol Hepatol 2016 Feb;14(2):295-300. doi: 10.1016/j.cgh.2015.08.018.
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Keywords: Cancer, Hepatitis, Genetics
Reynolds RJ, Vazquez AI, Srinivasasainagendra V
Serum urate gene associations with incident gout, measured in the Framingham Heart Study, are modified by renal disease and not by body mass index.
The researchers hypothesized that serum urate-associated SNPs, individually or collectively, interact with BMI and renal disease to contribute to risk of incident gout. They measured the incidence of gout and associated comorbidities using the original and offspring cohorts of the Framingham Heart Study. They demonstrated that minor alleles of rs1106766 (intergenic, INHBC) were negatively associated with the risk of incident gout in subjects without renal disease, but not for individuals with renal disease.
AHRQ-funded; HS021110.
Citation: Reynolds RJ, Vazquez AI, Srinivasasainagendra V .
Serum urate gene associations with incident gout, measured in the Framingham Heart Study, are modified by renal disease and not by body mass index.
Rheumatol Int 2016 Feb;36(2):263-70. doi: 10.1007/s00296-015-3364-4.
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Keywords: Centers for Education and Research on Therapeutics (CERTs), Evidence-Based Practice, Genetics, Risk, Obesity
Cleynen I, Boucher G, Jostins L
Inherited determinants of Crohn's disease and ulcerative colitis phenotypes: a genetic association study.
The researchers undertook the largest genotype association study, to date, in widely used clinical subphenotypes of inflammatory bowel disease with the goal of further understanding the biological relations between between Crohn's disease and ulcerative colitis. Their data support a continuum of disorders within inflammatory bowel disease, much better explained by three groups (ileal Crohn's disease, colonic Crohn's disease, and ulcerative colitis) than by Crohn's disease and ulcerative colitis as currently defined.
AHRQ-funded; HS021747.
Citation: Cleynen I, Boucher G, Jostins L .
Inherited determinants of Crohn's disease and ulcerative colitis phenotypes: a genetic association study.
Lancet 2016 Jan 9;387(10014):156-67. doi: 10.1016/s0140-6736(15)00465-1.
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Keywords: Genetics, Digestive Disease and Health, Chronic Conditions
Roberts MC, Bryson A, Weinberger M
Oncologists' barriers and facilitators for oncotype DX use: qualitative study.
The purpose of this paper was to understand better the U.S. oncologists' oncotype DX (ODX) uptake and how they use ODX during adjuvant chemotherapy decision making. This study identified multi-level factors that influence ODX uptake, including organizational factors, interpersonal factors, and intrapersonal factors.
AHRQ-funded; HS022189.
Citation: Roberts MC, Bryson A, Weinberger M .
Oncologists' barriers and facilitators for oncotype DX use: qualitative study.
Int J Technol Assess Health Care 2016 Jan;32(5):355-61. doi: 10.1017/s026646231600060x.
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Keywords: Cancer: Breast Cancer, Treatments, Shared Decision Making, 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), 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