National Healthcare Quality and Disparities Report
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- Arthritis (1)
- Cancer (7)
- Cancer: Breast Cancer (4)
- Cancer: Ovarian Cancer (1)
- Case Study (1)
- Centers for Education and Research on Therapeutics (CERTs) (1)
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- Data (2)
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- Diagnostic Safety and Quality (4)
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- Methicillin-Resistant Staphylococcus aureus (MRSA) (1)
- Mortality (1)
- Neurological Disorders (4)
- Obesity (1)
- Patient-Centered Healthcare (2)
- Patient and Family Engagement (1)
- Policy (1)
- Practice Patterns (1)
- Quality of Life (1)
- Racial and Ethnic Minorities (3)
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- Research Methodologies (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 25 of 30 Research Studies DisplayedLi D, Haritunians T, Landers C
Late-onset Crohn's Disease is a subgroup distinct in genetic and behavioral risk factors with UC-like characteristics.
Age of onset is linked to variations in clinical phenotypes and natural history in Crohn's disease (CD). In this study, the investigators aimed to define etiologically more homogenous subgroups in CD based on ages of onset. The investigators concluded that late-onset CD was subgroup distinct in genetic and behavioral risk factors with UC-like characteristics.
AHRQ-funded; HS021747.
Citation: Li D, Haritunians T, Landers C .
Late-onset Crohn's Disease is a subgroup distinct in genetic and behavioral risk factors with UC-like characteristics.
Inflamm Bowel Dis 2018 Oct 12;24(11):2413-22. doi: 10.1093/ibd/izy148..
Keywords: Digestive Disease and Health, Risk, Genetics
Wilson LE, Pollack CE, Greiner MA
Association between physician characteristics and the use of 21-gene recurrence score genomic testing among Medicare beneficiaries with early-stage breast cancer, 2008-2011.
This study sought to determine whether physician-level characteristics were associated with 21-gene recurrence score (RS) genomic testing to evaluate recurrence risk and benefit of adjuvant chemotherapy in patients with estrogen receptor-positive, node-negative breast cancer. The study concluded that although most RS testing was ordered by medical oncologists, physicians in other specialties ordered roughly one-third of the tests. Physician characteristics, including gender and time in practice, were associated with receiving testing.
AHRQ-funded; HS022189.
Citation: Wilson LE, Pollack CE, Greiner MA .
Association between physician characteristics and the use of 21-gene recurrence score genomic testing among Medicare beneficiaries with early-stage breast cancer, 2008-2011.
Breast Cancer Res Treat 2018 Jul;170(2):361-71. doi: 10.1007/s10549-018-4746-6..
Keywords: Cancer, Cancer: Breast Cancer, Genetics, Practice Patterns, Women
Polubriaginof FCG, Vanguri R, Quinnies K
Disease heritability inferred from familial relationships reported in medical records.
Electronic health records (EHRs) passively capture a wide range of clinically relevant data and provide a resource for studying the heritability of traits that are not typically accessible. This study used EHR data to compute heritability estimates for 500 disease phenotypes. These analyses provided a validation of the use of EHRs for genetics and disease research.
AHRQ-funded; HS021816; HS022961.
Citation: Polubriaginof FCG, Vanguri R, Quinnies K .
Disease heritability inferred from familial relationships reported in medical records.
Cell 2018 Jun 14;173(7):1692-704.e11. doi: 10.1016/j.cell.2018.04.032..
Keywords: Data, Family Health and History, Genetics, Health Information Technology (HIT), Electronic Health Records (EHRs)
Childers KK, Maggard-Gibbons M, Macinko J
National distribution of cancer genetic testing in the United States: evidence for a gender disparity in hereditary breast and ovarian cancer.
Identifying mutation carriers is critical for treatment decisions, cancer prevention, and early detection. This study analyzed the 2015 US National Health Interview Survey (NHIS), a cross-sectional in-person interview gathering self-reported health data for the US population. The study found that while cancer genetic testing seems to reach a broad geographic and sociodemographic population in the national survey, there remain underrepresented groups, including Hispanics, the uninsured, noncitizens, and those with less education.
AHRQ-funded; HS025079.
Citation: Childers KK, Maggard-Gibbons M, Macinko J .
National distribution of cancer genetic testing in the United States: evidence for a gender disparity in hereditary breast and ovarian cancer.
JAMA Oncol 2018 Jun;4(6):876-79. doi: 10.1001/jamaoncol.2018.0340..
Keywords: Cancer, Cancer: Breast Cancer, Cancer: Ovarian Cancer, Genetics, Racial and Ethnic Minorities, Screening, Social Determinants of Health, Women
Gray SW, Gagan J, cerami E
Interactive or static reports to guide clinical interpretation of cancer genomics.
Misinterpretation of complex genomic data presents a major challenge in the implementation of precision oncology. In this randomized, vignette-based survey study, the investigators sought to determine whether interactive genomic reports with embedded clinician education and optimized data visualization improved genomic data interpretation. The investigators concluded that interactive genomic reports may improve physicians' ability to accurately assess genomic data and increase report-related satisfaction.
AHRQ-funded; HS024984.
Citation: Gray SW, Gagan J, cerami E .
Interactive or static reports to guide clinical interpretation of cancer genomics.
J Am Med Inform Assoc 2018 May;25(5):458-64. doi: 10.1093/jamia/ocx150..
Keywords: Genetics, Cancer, Diagnostic Safety and Quality
Roberts MC, Dotson WD, DeVore CS
AHRQ Author: Ganiats TG
Delivery of cascade screening for hereditary conditions: a scoping review of the literature.
The authors conducted a scoping review to obtain a broad overview of cascade screening interventions, facilitators and barriers to their use, relevant policy considerations, and future research needs. They sought standardized best practices for optimizing cascade screening across various geographic and policy contexts, but found none. Studies in which trained providers contacted relatives directly, rather than through probands (index patients), showed greater cascade screening uptake; however, policies in some states might limit this approach.
AHRQ-authored.
Citation: Roberts MC, Dotson WD, DeVore CS .
Delivery of cascade screening for hereditary conditions: a scoping review of the literature.
Health Aff 2018 May;37(5):801-08. doi: 10.1377/hlthaff.2017.1630.
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Keywords: Family Health and History, Genetics, Policy, Screening
Lewis AH, Chugh A, Sobotka SA
Behavioral outbursts in a child with a deletion syndrome, generalized epilepsy, global developmental delay, and failure to thrive.
This paper presents the case of a 7-year-old girl with 20q13.33 deletion and a history of generalized convulsive epilepsy who presented to the Developmental and Behavioral Pediatrics Clinic due to concerns about her behavioral outbursts in the context of overall delayed development.
AHRQ-funded; HS023007.
Citation: Lewis AH, Chugh A, Sobotka SA .
Behavioral outbursts in a child with a deletion syndrome, generalized epilepsy, global developmental delay, and failure to thrive.
Pediatr Ann 2018 Mar;47(3):e130-e34. doi: 10.3928/19382359-20180223-01..
Keywords: Case Study, Children/Adolescents, Disabilities, Genetics, Neurological Disorders
Haymart MR
Is BRAF V600E mutation the explanation for age-associated mortality risk in patients with papillary thyroid cancer?
In this editorial, the author discusses an article appearing within the same issue. She states that the general hypothesis that age-related differences in mortality could be linked to underlying pathogenesis and specifically to oncogenic alterations is probable. She recommends confirmatory studies and concludes that this area of investigation offers potential opportunities to tailor prognostication further through a better understanding of pathogenesis.
AHRQ-funded; HS024512.
Citation: Haymart MR .
Is BRAF V600E mutation the explanation for age-associated mortality risk in patients with papillary thyroid cancer?
J Clin Oncol 2018 Feb 10;36(5):433-34. doi: 10.1200/jco.2017.76.2583..
Keywords: Cancer, Genetics, Mortality, Risk
Dickerson JF, Feeny DH, Clarke GN
Evidence on the longitudinal construct validity of major generic and utility measures of health-related quality of life in teens with depression.
This study examined the longitudinal construct validity in the assessment of changes in depressive symptoms of widely used utility and generic health-related quality of life (HRQL) instruments in teens. Its findings support the longitudinal construct validity of included HRQL instruments for the assessment of change in depression outcomes in teens.
AHRQ-funded; HS017720.
Citation: Dickerson JF, Feeny DH, Clarke GN .
Evidence on the longitudinal construct validity of major generic and utility measures of health-related quality of life in teens with depression.
Qual Life Res 2018 Feb;27(2):447-54. doi: 10.1007/s11136-017-1728-9.
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Keywords: Children/Adolescents, Depression, Genetics, Quality of Life
Taylor BD, Totten PA, Astete SG
Toll-like receptor variants and cervical Atopobium vaginae infection in women with pelvic inflammatory disease.
Toll-like (TLR) receptor genetic variants have been implicated in bacterial vaginosis (BV). This study determined whether TLR variants are associated with fastidious BV-associated microbes that are linked with infertility following pelvic inflammatory disease (PID). The investigators concluded that host gene variants in TLR2 signaling pathways were modestly associated with cervical A. vaginae in women with clinical PID.
AHRQ-funded; HS008358.
Citation: Taylor BD, Totten PA, Astete SG .
Toll-like receptor variants and cervical Atopobium vaginae infection in women with pelvic inflammatory disease.
Am J Reprod Immunol 2018 Feb;79(2). doi: 10.1111/aji.12804..
Keywords: Genetics, Sexual Health, Women
Hui KY, Fernandez-Hernandez H, Hu J
Functional variants in the LRRK2 gene confer shared effects on risk for Crohn's disease and Parkinson's disease.
Researchers studied the risk for Crohn’s disease (CD) and Parkinson’s disease (PD) in a population of Ashkenazi Jews who have the LRRK2 gene. This gene provides a risk for both conditions, However, some alleles (like N2081D variant) conferred more risk for CD or protection from CD (N551K variant). These shared alleles may provide insight into disease mechanisms and treatments.
AHRQ-funded; HS021747.
Citation: Hui KY, Fernandez-Hernandez H, Hu J .
Functional variants in the LRRK2 gene confer shared effects on risk for Crohn's disease and Parkinson's disease.
Sci Transl Med 2018 Jan 10;10(423). doi: 10.1126/scitranslmed.aai7795..
Keywords: Genetics, Neurological Disorders, Risk
Balentine CJ, Vanness DJ, Schneider DF
Cost-effectiveness of lobectomy versus genetic testing (Afirma(R)) for indeterminate thyroid nodules: considering the costs of surveillance.
This study evaluated whether diagnostic thyroidectomy for indeterminate thyroid nodules would be more cost-effective than genetic testing after including the costs of long-term surveillance. Its base case estimate suggests that diagnostic lobectomy dominates genetic testing as a strategy for ruling out malignancy of indeterminate thyroid nodules.
AHRQ-funded; HS023009.
Citation: Balentine CJ, Vanness DJ, Schneider DF .
Cost-effectiveness of lobectomy versus genetic testing (Afirma(R)) for indeterminate thyroid nodules: considering the costs of surveillance.
Surgery 2018 Jan;163(1):88-96. doi: 10.1016/j.surg.2017.10.004.
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Keywords: Cancer, Shared Decision Making, Diagnostic Safety and Quality, Genetics, Healthcare Costs, Screening, Surgery
Wardyn SE, Stegger M, Price LB
Whole-genome analysis of recurrent Staphylococcus aureus t571/ST398 infection in farmer, Iowa, USA.
Staphylococcus aureus strain sequence type (ST) 398 has emerged during the last decade, largely among persons who have contact with swine or other livestock. Although colonization with ST398 is common in livestock workers, infections are not frequently documented. The authors report recurrent ST398-IIa infection in an Iowa farmer in contact with swine and cattle.
AHRQ-funded; HS019966.
Citation: Wardyn SE, Stegger M, Price LB .
Whole-genome analysis of recurrent Staphylococcus aureus t571/ST398 infection in farmer, Iowa, USA.
Emerg Infect Dis 2018 Jan;24(1):153-54. doi: 10.3201/eid2401.161184.
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Keywords: Community-Acquired Infections, Genetics, Infectious Diseases, Methicillin-Resistant Staphylococcus aureus (MRSA)
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