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Research Studies is a monthly compilation of research articles funded by AHRQ or authored by AHRQ researchers and recently published in journals or newsletters.
Results
1 to 25 of 91 Research Studies Displayed
Cham S, Landrum MB, Keating NL
Use of germline BRCA testing in patients with ovarian cancer and commercial insurance.
The authors examined commercially insured populations to identify patient-, physician-, and practice-level characteristics associated with ovarian cancer testing rates. They found that only 33.9% of patients with commercial insurance were tested during the time period studied. Medical and gynecologic oncologists had similar rates of testing, while other physicians tested less often. Although independent practices often lack access to genetic counselors, women in this study had insurance coverage for in-person and telephonic counseling.
AHRQ-funded; HS024072.
Citation:
Cham S, Landrum MB, Keating NL .
Use of germline BRCA testing in patients with ovarian cancer and commercial insurance.
JAMA Netw Open 2022 Jan 4;5(1):e2142703. doi: 10.1001/jamanetworkopen.2021.42703..
Keywords:
Cancer: Ovarian Cancer, Cancer, Screening, Genetics, Health Insurance, Women
Wing SE, Hu H, Lopez L
Recall of genomic testing results among patients with cancer.
Genomic testing of somatic and germline DNA has transformed cancer care. However, low genetic knowledge among patients may compromise care and health outcomes. Given the rise in genomic testing, we sought to understand patients' knowledge of their genetic test results. The investigators conducted a survey-based study with 85 patients at a comprehensive cancer center and compared self-reported recall of (a) having had somatic/germline testing and (b) their specific somatic/germline results to the genomic test results documented in the medical record.
AHRQ-funded; HS024984.
Citation:
Wing SE, Hu H, Lopez L .
Recall of genomic testing results among patients with cancer.
Oncologist 2021 Dec;26(12):e2302-e05. doi: 10.1002/onco.13928..
Keywords:
Cancer, Genetics, Health Literacy
Golob JL, Rao K
Signal versus noise: how to analyze the microbiome and make progress on antimicrobial resistance.
This paper’s objective is to: 1) review the current thought on risk from antibiotic-resistant organization (ARO) acquisition; 2) review the current understanding on the gut microbiome’s ability to resist colonization with AROs; 3) describe how experimental model systems can test these global initial, global insights to arrive at more granular, mechanistic ones; and 4) suggest a path forward to make further progress in the field. This review is informed from experiences and successes with understanding of the role of the microbiome in mediating risk of Clostridioides difficile infection.
AHRQ-funded; HS027431.
Citation:
Golob JL, Rao K .
Signal versus noise: how to analyze the microbiome and make progress on antimicrobial resistance.
J Infect Dis 2021 Jun 16;223(Suppl 3):S214-S21. doi: 10.1093/infdis/jiab184..
Keywords:
Clostridium difficile Infections, Healthcare-Associated Infections (HAIs), Genetics
Arkhipova-Jenkins I, Helfand M, Armstrong C
Antibody response after SARS-CoV-2 infection and implications for immunity : a rapid living review.
This rapid literature review synthesizes evidence on the prevalence, levels, and durability of detectable antibodies after SARS-CoV-2 infection and whether the antibodies confer natural immunity. Seven databases were searched from January 1 to December 15, 2020, limited to peer-reviewed publications in English. Two investigators extracted study data and rated quality. Moderate-strength evidence suggested that most adults develop detectable levels of IgM and IgG antibodies after infection with SARS-CoV-2 and IgG levels peak approximately 25 days after symptom onset and can remain detectable for at least 120 days. Moderate-strength evidence suggested that IgM levels peak at approximately 20 days and then decline. There is low-strength evidence that most adults generate neutralizing antibodies. Reasons why some adults do not develop antibodies after SARS-CoV-2 are unclear.
AHRQ-funded; 290201700003C.
Citation:
Arkhipova-Jenkins I, Helfand M, Armstrong C .
Antibody response after SARS-CoV-2 infection and implications for immunity : a rapid living review.
Ann Intern Med 2021 Jun;174(6):811-21. doi: 10.7326/m20-7547..
Keywords:
COVID-19, Infectious Diseases, Genetics, Evidence-Based Practice
Staley BS, Milko LV, Waltz M
Evaluating the clinical utility of early exome sequencing in diverse pediatric outpatient populations in the North Carolina Clinical Genomic Evaluation of Next-generation Exome Sequencing (NCGENES) 2 study: a randomized controlled trial.
Exome sequencing (ES) has probable utility for shortening the diagnostic odyssey of children with suspected genetic disorders. This report described the design and methods of a study evaluating the potential of ES as a routine clinical tool for pediatric patients who have suspected genetic conditions and who are in the early stages of the diagnostic odyssey.
AHRQ-funded; HS000032.
Citation:
Staley BS, Milko LV, Waltz M .
Evaluating the clinical utility of early exome sequencing in diverse pediatric outpatient populations in the North Carolina Clinical Genomic Evaluation of Next-generation Exome Sequencing (NCGENES) 2 study: a randomized controlled trial.
Trials 2021 Jun 14;22(1):395. doi: 10.1186/s13063-021-05341-2..
Keywords:
Children/Adolescents, Genetics, Ambulatory Care and Surgery
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.
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
Richardson JS, Kemper AR, Grosse SD
Health and economic outcomes of newborn screening for infantile-onset Pompe disease.
The authors sought to estimate health and economic outcomes associated with newborn screening for infantile-onset Pompe disease in the United States. They found that newborn screening for Pompe disease resulted in substantial health gains for individuals with infantile-onset Pompe disease, but with additional costs.
AHRQ-funded; HS020644.
Citation:
Richardson JS, Kemper AR, Grosse SD .
Health and economic outcomes of newborn screening for infantile-onset Pompe disease.
Genet Med 2021 Apr;23(4):758-66. doi: 10.1038/s41436-020-01038-0..
Keywords:
Newborns/Infants, Screening, Genetics
Lusczek ER, Ingraham NE, Karam BS
Characterizing COVID-19 clinical phenotypes and associated comorbidities and complication profiles.
The purpose of this retrospective analysis of COVID-19 patients was to identify specific clinical phenotypes across COVID-19 patients and to compare admission characteristics and outcomes. Investigators identified three clinical COVID-19 phenotypes, reflecting patient populations with different comorbidities, complications, and clinical outcomes. They recommended future research to determine the utility of these phenotypes in clinical practice and trial design.
AHRQ-funded; HS026379.
Citation:
Lusczek ER, Ingraham NE, Karam BS .
Characterizing COVID-19 clinical phenotypes and associated comorbidities and complication profiles.
PLoS One 2021 Mar 31;16(3):e0248956. doi: 10.1371/journal.pone.0248956..
Keywords:
COVID-19, Genetics
Ruaño G, Tortora J, Robinson S
Subanalysis of the CYP-GUIDES trial: CYP2D6 functional stratification and operational timeline selection.
CYP-GUIDES (Cytochrome Psychotropic Genotyping Under Investigation for Decision Support) was a Randomized Controlled Trial comparing 2 outcomes in hospitalized patients with major depressive disorder treated according to the patient's CYP2D6 genotype and functional status versus standard psychotropic therapy. In this paper, the authors described a subanalysis of the CYP-GUIDES trial. They concluded that there was an effect of pharmacogenetic clinical decision support that reduced length of stay in patients with CYP2D6 subfunctional status and reduced prescribing of CYP2D6 substrate dependent drugs.
AHRQ-funded; HS022304
Citation:
Ruaño G, Tortora J, Robinson S .
Subanalysis of the CYP-GUIDES trial: CYP2D6 functional stratification and operational timeline selection.
Psychiatry Res 2021 Mar;297:113571. doi: 10.1016/j.psychres.2020.113571..
Keywords:
Clinical Decision Support (CDS), Depression, Genetics, Medication, Behavioral Health
Hammad Mrig E
Integrating fundamental cause theory and Bourdieu to explain pathways between socioeconomic status and health: the case of health insurance denials for genetic testing.
This paper proposes that Pierre Bourdieu's theories of capital and symbolic power can be integrated with fundamental cause theory to address limitations in the latter theory, making it more useful in health disparities research. This work deepens appreciation for the durable relationship between socioeconomic status and health. Study results reveal the multiple and complex mechanisms that play a role in access to healthcare services, which has significant implications for how we think about the role of health policy in addressing health disparities.
AHRQ-funded; HS017589.
Citation:
Hammad Mrig E .
Integrating fundamental cause theory and Bourdieu to explain pathways between socioeconomic status and health: the case of health insurance denials for genetic testing.
Sociol Health Illn 2021 Jan;43(1):133-48. doi: 10.1111/1467-9566.13195..
Keywords:
Social Determinants of Health, Disparities, Health Insurance, Access to Care, Genetics, Policy
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
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%.
AHRQ-funded; HS022189.
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.
AHRQ-funded; HS022900.
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.
AHRQ-funded; HS000032.
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.
AHRQ-funded; HS022982.
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.
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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.
AHRQ-funded; HS026510.
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.
AHRQ-funded; HS019461.
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
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.
AHRQ-authored.
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.
AHRQ-funded; HS022304.
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
Kunst NR, Alarid-Escudero F, Paltiel AD
A value of information analysis of research on the 21-gene assay for breast cancer management.
The authors aimed to quantify the value of conducting further research to reduce decision uncertainty in the use of the 21-gene assay Oncotype DX (21-GA). They found that current evidence strongly supports the use of the 21-GA in intermediate- and high-risk women and recommended that further research focus on low-risk women.
AHRQ-funded; HS023900.
Citation:
Kunst NR, Alarid-Escudero F, Paltiel AD .
A value of information analysis of research on the 21-gene assay for breast cancer management.
Value Health 2019 Oct;22(10):1102-10. doi: 10.1016/j.jval.2019.05.004..
Keywords:
Genetics, Cancer: Breast Cancer, Cancer, Decision Making, Research Methodologies, Value
Yanik MV, Seifert ME MV, Seifert ME, Locke JE
CYP3A5 genotype affects time to therapeutic tacrolimus level in pediatric kidney transplant recipients.
Optimal management of immunosuppression in kidney transplantation requires a delicate balance of efficacy and toxicity. Tacrolimus (TAC) dose requirements are significantly impacted by genetic variation in CYP3A5 polymorphisms, however the impact that genotype has on clinical outcomes in the pediatric kidney transplant population remains unclear. In this study, the investigators evaluated a retrospective cohort of 98 pediatric kidney transplant recipients. In this paper, they report on their findings.
AHRQ-funded; HS013852.
Citation:
Yanik MV, Seifert ME MV, Seifert ME, Locke JE .
CYP3A5 genotype affects time to therapeutic tacrolimus level in pediatric kidney transplant recipients.
Pediatr Transplant 2019 Aug;23(5):e13494. doi: 10.1111/petr.13494..
Keywords:
Children/Adolescents, Transplantation, Kidney Disease and Health, Genetics
Ruaño G, Holford T, Seip RL
Pharmacogenetic clinical decision support for psychiatric hospitalization: design of the CYP-GUIDES randomized controlled trial.
The CYP-GUIDES (Cytochrome Psychotropic Genotyping Under Investigation for Decision Support) trial aims to establish evidence for clinical pharmacogenetics in psychotropic prescription in severely depressed inpatients. This article describes the design of a Randomized Controlled Trial (RCT) of CYP2D6 genotype-guided versus standard care psychotropic prescription. The CYP-GUIDES trial will assess whether clinical prescribing guided by CYP2D6 functional status can improve the treatment of psychiatric inpatients, shorten the length of hospitalization, and reduce readmission.
AHRQ-funded; HS022304.
Citation:
Ruaño G, Holford T, Seip RL .
Pharmacogenetic clinical decision support for psychiatric hospitalization: design of the CYP-GUIDES randomized controlled trial.
Contemp Clin Trials 2019 Aug;83:27-36. doi: 10.1016/j.cct.2019.06.008..
Keywords:
Behavioral Health, Hospitalization, Clinical Decision Support (CDS), Health Information Technology (HIT), Genetics
Knerr S, Bowles EJA, Leppig KA
Trends in BRCA test utilization in an integrated health system, 2005-2015.
The authors reported 10-year trends in BRCA testing in an integrated health-care system with long-standing access to genetic services. They found that many eligible women did not receive BRCA testing despite having insurance coverage and access to specialty genetic services, thus underscoring challenges to primary and secondary hereditary cancer prevention.
AHRQ-funded; HS022982.
Citation:
Knerr S, Bowles EJA, Leppig KA .
Trends in BRCA test utilization in an integrated health system, 2005-2015.
J Natl Cancer Inst 2019 Aug;111(8):795-802. doi: 10.1093/jnci/djz008..
Keywords:
Cancer: Breast Cancer, Cancer: Ovarian Cancer, Cancer, Genetics, Screening, Prevention, Healthcare Utilization, Healthcare Delivery, Women
Kaderka R, Mundt RC, Li N
Automated closed- and open-loop validation of knowledge-based planning routines across multiple disease sites.
This study examined the use of knowledge-based planning (KBP) clinical implementation for treatment across multiple disease sites using volumetric modulated arc therapy. Researchers identified patients with prostate, lung, and head and neck cancers who were treated in the year right before their clinic’s broad adoption of RapidPlan. Statistically significant organ dose-volume histogram improvements were observed in the KBP cohort compared to manual planning.
AHRQ-funded; R01 HS025440.
Citation:
Kaderka R, Mundt RC, Li N .
Automated closed- and open-loop validation of knowledge-based planning routines across multiple disease sites.
Pract Radiat Oncol 2019 Jul - Aug;9(4):257-65. doi: 10.1016/j.prro.2019.02.010..
Keywords:
Cancer, Genetics, Treatments
