Search All Research Studies
AHRQ Research Studies Date
AHRQ Research Studies
Sign up: AHRQ Research Studies Email updates
Research Studies is a monthly compilation of research articles funded by AHRQ or authored by AHRQ researchers and recently published in journals or newsletters.
Results1 to 9 of 9 Research Studies Displayed
Dinan MA, Wilson LE, Reed SD
Association of 21-gene assay (OncotypeDX) testing and receipt of chemotherapy in the Medicare breast cancer patient population following initial adoption.
This study looked at trends in the association of 21-gene assay testing and receipt of chemotherapy in the Medicare breast cancer patient population following initial adoption from 2001 to 2011. The investigators looked at updated SEER-Medicare data from 2004 and 2011. The cohort included 26,009 patients who met inclusion criteria. Assay use was associated with a decrease in absolute percentage use of chemotherapy by 4.5%, which became even more pronounced from 2008-2011 with a decrease of 6.8%.
Citation: Dinan MA, Wilson LE, Reed SD . Association of 21-gene assay (OncotypeDX) testing and receipt of chemotherapy in the Medicare breast cancer patient population following initial adoption. Clin Breast Cancer 2020 Dec;20(6):487-94.e1. doi: 10.1016/j.clbc.2020.05.010..
Keywords: Cancer: Breast Cancer, Cancer, Treatments, Genetics, Medicare, Women, Healthcare Utilization
Chen Y, Liang KY, Tong P
A pseudolikelihood approach for assessing genetic association in case-control studies with unmeasured population structure.
In this paper, researchers propose a novel statistical method to estimate the association between genetic markers and diseases in case-control studies with unmeasured population substructure. The performance of the proposed method, relative to the existing methods, on bias, coverage probability, and computational time, is assessed through simulations. The method is applied to an end-stage renal disease study in African Americans population.
Citation: Chen Y, Liang KY, Tong P . A pseudolikelihood approach for assessing genetic association in case-control studies with unmeasured population structure. Stat Methods Med Res 2020 Nov;29(11):3153-65. doi: 10.1177/0962280220921212..
Keywords: Genetics, Research Methodologies
Griesemer I, Staley BS, Lightfoot AF
Engaging community stakeholders in research on best practices for clinical genomic sequencing.
This paper describes the NCGENES2 study which explored the impact of engagement between clinicians and caregivers of children with undiagnosed conditions in the context of a diagnostic genomic sequencing study. A Community Consult Team (CCT) was formed with diverse parents and advocates for children with genetic and/or neurodevelopmental conditions. Early and consistent engagement with the CCT resulted in adaptations to study protocols relevant to this unique study population.
Citation: Griesemer I, Staley BS, Lightfoot AF . Engaging community stakeholders in research on best practices for clinical genomic sequencing. Per Med 2020 Nov;16(6):435-44. doi: 10.2217/pme-2020-0074..
Keywords: Children/Adolescents, Patient and Family Engagement, Genetics
Knerr S, West KM, Angelo FA
Organizational readiness to implement population-based screening and genetic service delivery for hereditary cancer prevention and control.
Programs conducting population-based screening and genetic service delivery for hereditary cancer prevention and control are rare in practice. The authors interviewed individuals instrumental in implementing seven unique clinical programs conducting either universal tumor screening for Lynch Syndrome or routine family history screening and provision of genetic services for hereditary breast and ovarian cancer in the United States. Their findings suggest that developing interventions targeting change efficacy and cultivating practice change champions may be two promising ways to increase uptake of population-based hereditary cancer screening and genetic service delivery in clinical practice.
Citation: Knerr S, West KM, Angelo FA . Organizational readiness to implement population-based screening and genetic service delivery for hereditary cancer prevention and control. J Genet Couns 2020 Oct;29(5):867-76. doi: 10.1002/jgc4.1216.
Keywords: Cancer, Screening, Genetics, Prevention, Guidelines, Healthcare Delivery, Organizational Change, Implementation
Feldman AG, Parsons JA, Dutmer CM
Subacute liver failure following gene replacement therapy for spinal muscular atrophy type 1.
This paper reports on two cases of transient, drug-induced liver failure after gene replacement therapy using an adeno-associated virus vector containing the survival motor neuron 1 gene.
Citation: Feldman AG, Parsons JA, Dutmer CM . Subacute liver failure following gene replacement therapy for spinal muscular atrophy type 1. J Pediatr 2020 Oct;225:252-58.e1. doi: 10.1016/j.jpeds.2020.05.044..
Keywords: Newborns/Infants, Neurological Disorders, Genetics, Treatments, Adverse Drug Events (ADE), Adverse Events, Medication, Medication: Safety, Patient Safety, Case Study
Edwards RL, Heueck I, Lee SG
Potent, specific MEPicides for treatment of zoonotic staphylococci.
In this study, researchers demonstrated that fosmidomycin (FSM) inhibited the first step of the isoprenoid biosynthetic pathway catalyzed by deoxyxylulose phosphate reductoisomerase (DXR) in staphylococci. They synthesized a series of lipophilic ester prodrugs (termed MEPicides) structurally related to FSM, and their data indicated that the presence of the prodrug moiety not only substantially increased potency of the inhibitors against staphylococci but also bypassed the need for GlpT-mediated cellular transport. They concluded that their data indicated that the prodrug MEPicides selectively and robustly inhibited DXR in zoonotic staphylococci, and, further, that DXR represented a promising, druggable target for future development.
AHRQ-funded; HS021736; HS024269.
Citation: Edwards RL, Heueck I, Lee SG . Potent, specific MEPicides for treatment of zoonotic staphylococci. PLoS Pathog 2020 Jun;16(6):e1007806. doi: 10.1371/journal.ppat.1007806..
Keywords: Infectious Diseases, Antibiotics, Medication, Genetics
Johnson A, Broughton S, Aponte-Soto L
Participatory genomic testing can effectively disseminate cardiovascular pharmacogenomics concepts within federally qualified health centers: a feasibility study.
Researchers assessed feasibility of an educational program designed to enhance stakeholder knowledge and perceptions of pharmacogenomics at a federally qualified health center. Twenty providers and 10 community members were recruited for a feasibility study via convenience sampling. The researchers determined that a pharmacogenomics educational program tailored for an underrepresented community was feasible and acceptable; outcomes will advise methodology for larger implementation studies.
Citation: Johnson A, Broughton S, Aponte-Soto L . Participatory genomic testing can effectively disseminate cardiovascular pharmacogenomics concepts within federally qualified health centers: a feasibility study. Ethn Dis 2020 Apr;30(Suppl 1):167-76. doi: 10.18865/ed.30.S1.167..
Keywords: Genetics, Cardiovascular Conditions, Community Partnerships, Health Literacy, Education: Patient and Caregiver
Mills J, Fakolade A
AHRQ Author: Mills J
Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer.
In this case study, a 31-year-old woman presents for a well-woman examination. She indicates that her mother was diagnosed with tubal cancer at age 40, that her 42-year-old sister was recently diagnosed with breast cancer, and that her maternal aunt was diagnosed with breast cancer at age 45.
Citation: Mills J, Fakolade A . Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer. Am Fam Physician 2020 Feb 15;101(4):239-40..
Keywords: U.S. Preventive Services Task Force (USPSTF), Cancer: Breast Cancer, Cancer, Genetics, Screening, Mammogram, Prevention, Case Study
Ruaño Ruaño, Robinson S, Holford T
Results of the CYP-GUIDES randomized controlled trial: total cohort and primary endpoints.
CYP-GUIDES (Cytochrome Psychotropic Genotyping Under Investigation for Decision Support) was a randomized controlled trial (RCT) comparing 2 outcomes in hospitalized patients with major depressive disorder (MDD) treated according to the patient's CYP2D6 genotype and functional status versus standard psychotropic therapy. This paper describes the results of that study. The primary outcome was hospital Length of Stay (LOS) and the secondary outcome was the Re-Admission Rate (RAR) 30 days after discharge.
Citation: Ruaño Ruaño, Robinson S, Holford T . Results of the CYP-GUIDES randomized controlled trial: total cohort and primary endpoints. Contemp Clin Trials 2020 Feb;89:105910. doi: 10.1016/j.cct.2019.105910..
Keywords: Depression, Behavioral Health, Genetics, Medication