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 25 of 34 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)
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
Gallego 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