National Healthcare Quality and Disparities Report
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Topics
- Adverse Drug Events (ADE) (1)
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- Blood Thinners (1)
- Cancer (8)
- Cancer: Breast Cancer (7)
- Cancer: Colorectal Cancer (1)
- Cardiovascular Conditions (1)
- Case Study (3)
- Children/Adolescents (2)
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- Comparative Effectiveness (1)
- Depression (1)
- Diabetes (1)
- Diagnostic Safety and Quality (4)
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- Education: Patient and Caregiver (1)
- Electronic Health Records (EHRs) (1)
- Evidence-Based Practice (1)
- Family Health and History (1)
- (-) Genetics (30)
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- Healthcare-Associated Infections (HAIs) (2)
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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 DisplayedDinan 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
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.
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, Women, 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
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
Bennette CS, Gallego CJ, Burke W
The cost-effectiveness of returning incidental findings from next-generation genomic sequencing.
The researchers developed a decision-analytic policy model to project the quality-adjusted life-years and lifetime costs associated with returning ACMG-recommended incidental findings in three hypothetical cohorts of 10,000 patients. They found that returning incidental findings are likely cost-effective for certain patient populations. Screening of generally healthy individuals is likely not cost-effective based on current data.
AHRQ-funded; HS023340.
Citation: Bennette CS, Gallego CJ, Burke W .
The cost-effectiveness of returning incidental findings from next-generation genomic sequencing.
Genet Med 2015 Jul;17(7):587-95. doi: 10.1038/gim.2014.156..
Keywords: Healthcare Costs, Genetics, Shared Decision Making
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, Shared Decision Making, Diagnostic Safety and Quality, Genetics, Healthcare Costs, Screening
Lee BY, Schreiber B, Wateska AR
The Benin experience: how computational modeling can assist major vaccine policy changes in low and middle income countries.
The authors discuss some of the key steps and lessons learned in their Benin experience that helped computational modeling inform and lead to major policy change. The key steps are: engagement of Ministry of Health, identifying in-country “champions,” directed and efficient data collection, defining a finite set of realistic scenarios, making the study methodology transparent, presenting the results in a clear manner, and facilitating decision-making and advocacy.
AHRQ-funded; HS023317.
Citation: Lee BY, Schreiber B, Wateska AR .
The Benin experience: how computational modeling can assist major vaccine policy changes in low and middle income countries.
Vaccine 2015 Jun 9;33(25):2858-61. doi: 10.1016/j.vaccine.2015.04.022..
Keywords: Genetics, Policy, Vaccination
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