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
51 to 75 of 96 Research Studies DisplayedHarowicz MR, Robinson TJ, Dinan MA
Algorithms for prediction of the Oncotype DX recurrence score using clinicopathologic data: a review and comparison using an independent dataset.
This study analyzed 305 patients with invasive breast cancer who had Oncotype DX recurrence scores (ODX RS) available. Five equations were selected that provide a surrogate measure of ODX by Klein (Magee equations 1-3), Gage et al., and Tang et al. Although commonly available surrogates for ODX appear to predict high-risk ODX RS, the study was unable to reliably rule out the presence of patients with intermediate-risk disease by ODX.
AHRQ-funded; HS022189.
Citation: Harowicz MR, Robinson TJ, Dinan MA .
Algorithms for prediction of the Oncotype DX recurrence score using clinicopathologic data: a review and comparison using an independent dataset.
Breast Cancer Res Treat 2017 Feb;162(1):1-10. doi: 10.1007/s10549-016-4093-4.
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Keywords: Cancer, Cancer: Breast Cancer, Genetics, Women
Taylor BD, Zheng X, Darville T
Whole-exome sequencing to identify novel biological pathways associated with infertility after pelvic inflammatory disease.
The researchers used whole-exome sequencing to identify biological pathways that may be associated with STI-related infertility. Pathway analysis revealed that focus genes were enriched in canonical pathways including, IL-1 signaling, P2Y purinergic receptor signaling, and bone morphogenic protein signaling. Targeted sequencing of biological pathways identified in this study may provide insight into STI-related infertility.
AHRQ-funded; HS008358.
Citation: Taylor BD, Zheng X, Darville T .
Whole-exome sequencing to identify novel biological pathways associated with infertility after pelvic inflammatory disease.
Sex Transm Dis 2017 Jan;44(1):35-41. doi: 10.1097/olq.0000000000000533.
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Keywords: Genetics, Sexual Health, Women
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)
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
Lemke AA, Harris-Wai JN
Stakeholder engagement in policy development: challenges and opportunities for human genomics.
The purpose of this paper is to examine how stakeholder engagement is used to develop policies in genomics research and public health areas, as well as to identify future priorities for conducting evidence-based stakeholder engagements. It concluded that several challenges of using stakeholder engagement as a tool for genomics policy development remain, and little evidence regarding how to best incorporate stakeholder feedback into policy-making processes is currently available.
AHRQ-funded; HS023547.
Citation: Lemke AA, Harris-Wai JN .
Stakeholder engagement in policy development: challenges and opportunities for human genomics.
Genet Med 2015 Dec;17(12):949-57. doi: 10.1038/gim.2015.8.
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Keywords: Evidence-Based Practice, Genetics, Patient and Family Engagement, Policy, Public Health
Potosky AL, O'Neill SC, Isaacs C
Population-based study of the effect of gene expression profiling on adjuvant chemotherapy use in breast cancer patients under the age of 65 years.
The authors evaluated the relation between gene expression profiling (GEP) testing and the use of adjuvant chemotherapy by women treated in a general oncology practice. They found that adjuvant chemotherapy use after GEP testing is generally consistent with the recommended test interpretation for women with a high or low predicted risk of recurrence. Chemotherapy use in the intermediate-risk group increased with Recurrence Score values, and evidence from ongoing randomized trials may help to clarify whether this finding reflects optimal interpretation of GEP test results.
AHRQ-funded; HS022915.
Citation: Potosky AL, O'Neill SC, Isaacs C .
Population-based study of the effect of gene expression profiling on adjuvant chemotherapy use in breast cancer patients under the age of 65 years.
Cancer 2015 Nov 15;121(22):4062-70. doi: 10.1002/cncr.29621.
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Keywords: Cancer, Cancer: Breast Cancer, Treatments, Shared Decision Making, Genetics, Practice Patterns, Women
Cutting EM, Overby CL, Banchero M
Using workflow modeling to identify areas to improve genetic test processes in the University of Maryland Translational Pharmacogenomics Project.
The researchers used information gained from focus groups in order to illustrate the current process of delivering genetic test results to clinicians. They proposed a business process model and notation (BPMN) representation of this process for a Translational Pharmacogenomics Project being implemented at the University of Maryland Medical Center. They found that the current process could be improved to reduce input errors, better inform and notify clinicians about the implications of certain genetic tests, and make results more easily understood. They demonstrated theiruse of BPMN to improve this important clinical process for CYP2C19 genetic testing.
AHRQ-funded; HS023390.
Citation: Cutting EM, Overby CL, Banchero M .
Using workflow modeling to identify areas to improve genetic test processes in the University of Maryland Translational Pharmacogenomics Project.
AMIA Annu Symp Proc 2015 Nov 5;2015:466-74.
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Keywords: Genetics, Diagnostic Safety and Quality, Medication, Workflow, Quality Improvement, Quality of Care, Organizational Change
Dinan MA, Mi X, Reed SD
Association between use of the 21-gene recurrence score assay and receipt of chemotherapy among Medicare beneficiaries with early-stage breast cancer, 2005-2009.
The researchers examined whether adoption of the 21-Gene Recurrence Score (RS) assay in a nationally representative sample of patients with early-stage breast cancer was associated with use of chemotherapy. They found that the impact of the adoption of the RS assay on receipt of chemotherapy was strongly population dependent and was associated with relatively lower chemotherapy use in groups with high-risk disease and relatively higher chemotherapy use in patients with low-risk disease.
AHRQ-funded; HS022189.
Citation: Dinan MA, Mi X, Reed SD .
Association between use of the 21-gene recurrence score assay and receipt of chemotherapy among Medicare beneficiaries with early-stage breast cancer, 2005-2009.
JAMA Oncol 2015 Nov 1;1(8):1098-109. doi: 10.1001/jamaoncol.2015.2722..
Keywords: Cancer, Cancer: Breast Cancer, Treatments, Genetics, Medicare, Women
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)
Polage CR, Gyorke CE, Kennedy MA
Overdiagnosis of Clostridium difficile infection in the molecular test era.
This study determined the natural history and need for treatment of patients who are toxin immunoassay negative and polymerase chain reaction (PCR) positive (Tox−/PCR+) for Clostridium difficile Infection ( CDI). They found that among hospitalized adults with suspected CDI, virtually all CDI-related complications and deaths occurred in patients with positive toxin immunoassay test results.
AHRQ-funded; HS022236.
Citation: Polage CR, Gyorke CE, Kennedy MA .
Overdiagnosis of Clostridium difficile infection in the molecular test era.
JAMA Intern Med 2015 Nov;175(11):1792-801. doi: 10.1001/jamainternmed.2015.4114..
Keywords: Clostridium difficile Infections, Healthcare-Associated Infections (HAIs), Healthcare-Associated Infections (HAIs), Genetics