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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 11 of 11 Research Studies DisplayedAsti L, Hopley C, Avelis C
The potential clinical and economic value of a human papillomavirus primary screening test that additionally identifies genotypes 31, 45, 51, and 52 individually.
This study looked at the potential clinical and economic value of a human papillomavirus (HPV) primary screening test that additionally identified genotypes 31,45,51, and 52 along with genotypes 16 and 18. The authors developed a Markov model of the HPV disease course and evaluated the clinical and economic value of HPV primary screening with Onclarity. Currently HPV primary screening results in 25,194 invasive procedures and 48 invasive cervical cancer (ICC) cases per 100,000 women. Screening with extended genotyping and later screening women with certain genotypes averted 903 to 3163 invasive procedures and results in 0 to 3 more ICC cases compared with current primary screening tests. Extended genotyping was cost effective when costing $75 and cost saving when costing $43. When the probabilities of disease progression increased 2-4 times, it was not cost-effective because it resulted in more ICC cases and accrued fewer quality-adjusted life-years.
AHRQ-funded; HS023317.
Citation: Asti L, Hopley C, Avelis C .
The potential clinical and economic value of a human papillomavirus primary screening test that additionally identifies genotypes 31, 45, 51, and 52 individually.
Sex Transm Dis 2021 May;48(5):370-80. doi: 10.1097/olq.0000000000001327.
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Keywords: Sexual Health, Infectious Diseases, Screening, Diagnostic Safety and Quality, Genetics, Cancer: Cervical Cancer, Cancer, Women
Fraiman YS, Wojcik MH
The influence of social determinants of health on the genetic diagnostic odyssey: who remains undiagnosed, why, and to what effect?
This review article synthesizes the available evidence regarding population disparities in genetic testing for pediatric rare disease diagnosis and identifies gaps in care. The influence of social determinants of health is known, but this study’s goal is to examine the prevalence and nature of disparities in diagnostic testing. It synthesizes the available evidence regarding disparities, defining the need for further, prospective studies.
AHRQ-funded; HS000063.
Citation: Fraiman YS, Wojcik MH .
The influence of social determinants of health on the genetic diagnostic odyssey: who remains undiagnosed, why, and to what effect?
Pediatr Res 2021 Jan;89(2):295-300. doi: 10.1038/s41390-020-01151-5..
Keywords: Children/Adolescents, Social Determinants of Health, Genetics, Diagnostic Safety and Quality, Screening, Disparities
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
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, Decision Making, Diagnostic Safety and Quality, Genetics, Healthcare Costs, Screening, Surgery
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 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
Gallego CJ, Shirts BH, Bennette CS
Next-generation sequencing panels for the diagnosis of colorectal cancer and polyposis syndromes: a cost-effectiveness analysis.
The researchers evaluated the cost effectiveness of next-generation sequencing (NGS) panels for the diagnosis of colorectal cancer and polyposis (CRCP) syndromes in patients referred to cancer genetics clinics. They concluded that the use of an NGS panel that includes genes associated with highly penetrant CRCP syndromes in addition to Lynch syndrome genes as a first-line test is likely to provide meaningful clinical benefits in a cost-effective manner.
AHRQ-funded; HS021686.
Citation: Gallego CJ, Shirts BH, Bennette CS .
Next-generation sequencing panels for the diagnosis of colorectal cancer and polyposis syndromes: a cost-effectiveness analysis.
J Clin Oncol 2015 Jun 20;33(18):2084-91. doi: 10.1200/jco.2014.59.3665..
Keywords: Cancer, Cancer: Colorectal Cancer, Decision Making, Diagnostic Safety and Quality, Genetics, Healthcare Costs, Screening
Carmody D, Lindauer KL, Naylor RN
Adolescent non-adherence reveals a genetic cause for diabetes.
Glucokinase related maturity-onset diabetes of the young (GCK-MODY) is frequently unrecognized or misdiagnosed as Type 1 or Type 2 diabetes, resulting in unnecessary pharmacologic therapy. The authors recommend considering a genetic cause when evaluating every person with new-onset hyperglycaemia or those with atypical diabetes. Testing costs for the most common MODY causing genes may be offset by savings made in therapeutic costs. They suggest that it is important that all clinicians supervising diabetes care recognize the cardinal features that distinguish GCK-MODY from other forms of diabetes.
AHRQ-funded; HS023007.
Citation: Carmody D, Lindauer KL, Naylor RN .
Adolescent non-adherence reveals a genetic cause for diabetes.
Diabet Med 2015 Jun;32(6):e20-3. doi: 10.1111/dme.12669.
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Keywords: Children/Adolescents, Diabetes, Diagnostic Safety and Quality, Genetics, Medication
Patel PA, Robicsek A, Grayes A
Evaluation of multiple real-time PCR tests on nasal samples in a large MRSA surveillance program.
The researchers evaluated the LightCycler MRSA Advanced Test (Roche Molecular Diagnostics, Pleasanton, CA), the BD MAX MRSA assay (Becton Dickinson, Franklin Lakes, NJ), and the Xpert MRSA assay (Cepheid, Sunnyvale, CA) on nasal samples using the same population. Their results suggest that the performance of the three commercial assays is similar.
AHRQ-funded; HS019968.
Citation: Patel PA, Robicsek A, Grayes A .
Evaluation of multiple real-time PCR tests on nasal samples in a large MRSA surveillance program.
Am J Clin Pathol 2015 May;143(5):652-8. doi: 10.1309/ajcpmdy32ztdxpfc..
Keywords: Methicillin-Resistant Staphylococcus aureus (MRSA), Healthcare-Associated Infections (HAIs), Patient Safety, Diagnostic Safety and Quality, 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)