Evidence map›Paper›PMID 24026547›Full record

ArticleDiabetes care2014

Cost-effectiveness of MODY genetic testing: translating genomic advances into practical health applications.

Rochelle N Naylor, Priya M John, Aaron N Winn, David Carmody, Siri Atma W Greeley, Louis H Philipson, Graeme I Bell, Elbert S Huang

Open access · hybridAbstract readComparative Study
In one paragraph

Article in Diabetes care, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 69 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
69citing papers in PubMed, 1 pooled it
5.5field-weighted citation impact, top 3% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

69 citing papers in PubMed, 1 synthesis or guideline pooled it, 133 citations in OpenAlex.

  1. A systematic review of the methodological quality of economic evaluations in genetic screening and testing for monogenic disorders.Genetics in medicine : official journal of the American College of Medical Genetics · 2022
    Pooled it
  2. Monogenic diabetes in overweight and obese youth diagnosed with type 2 diabetes: the TODAY clinical trial.Genetics in medicine : official journal of the American College of Medical Genetics · 2018 · on this map
    Trial
  3. Article
  4. Article
  5. Review
  6. Article
  7. Article
  8. Article
  9. Article
  10. Article
  11. Actionability of Genetic Variants in Diabetes: Core Aspects and Applied Examples.Diabetes spectrum : a publication of the American Diabetes Association · 2025
    Article
  12. Article
  13. Screening of Mutations in Maturity-onset Diabetes of the Young-related Genes andJournal of clinical research in pediatric endocrinology · 2024
    Article
  14. Article
  15. Review
  16. Article
  17. Review
  18. Article
  19. Identification of pathogenicMolecular genetics and metabolism reports · 2023
    Article
  20. Monogenic diabetes.Nature reviews. Disease primers · 2023
    Review

9 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors at 2 institutions in 1 country.

Rochelle N NaylorCorresponding author: Rochelle N. Naylor, rnaylor@bsd.uchicago.edu.
Priya M John
Aaron N Winn
David Carmody
Siri Atma W Greeley
Louis H Philipson
Graeme I Bell
Elbert S Huang
University of Chicago · USTufts Medical Center · US

Funding

TRANSGENIC COREP60DK020595 · NIDDK · UNIVERSITY OF CHICAGO · PI BELL, GRAEME I · 1985 to 2012
$25.5M
Pilot and Feasibility ProgramP30DK020595 · NIDDK · UNIVERSITY OF CHICAGO · PI RONALD N COHEN · 2013 to 2026
$20.9M
Research Design, Data, and Analytics CoreP30DK092949 · NIDDK · UNIVERSITY OF CHICAGO · PI ELBERT S. HUANG · 2011 to 2026
$10.0M
Incretin Regulation of Insulin Secretion in Human Neonatal DiabetesK23DK094866 · NIDDK · UNIVERSITY OF CHICAGO · PI GREELEY, SIRI ATMA W. · 2012 to 2014
$515k
NIDDK NIH HHS K23 DK-094866NIDDK NIH HHS K23 DK094866NIDDK NIH HHS P30 DK020595NIDDK NIH HHS P30 DK092949NIDDK NIH HHS P30 DK-092949-01NIDDK NIH HHS P60 DK-020595NIDDK NIH HHS P60 DK020595
6 · The paper itself

Abstract

OBJECTIVE To evaluate the cost-effectiveness of a genetic testing policy for HNF1A-, HNF4A-, and GCK-MODY in a hypothetical cohort of type 2 diabetic patients 25-40 years old with a MODY prevalence of 2%. RESEARCH DESIGN AND METHODS We used a simulation model of type 2 diabetes complications based on UK Prospective Diabetes Study data, modified to account for the natural history of disease by genetic subtype to compare a policy of genetic testing at diabetes diagnosis versus a policy of no testing. Under the screening policy, successful sulfonylurea treatment of HNF1A-MODY and HNF4A-MODY was modeled to produce a glycosylated hemoglobin reduction of -1.5% compared with usual care. GCK-MODY received no therapy. Main outcome measures were costs and quality-adjusted life years (QALYs) based on lifetime risk of complications and treatments, expressed as the incremental cost-effectiveness ratio (ICER) (USD/QALY). RESULTS The testing policy yielded an average gain of 0.012 QALYs and resulted in an ICER of 205,000 USD. Sensitivity analysis showed that if the MODY prevalence was 6%, the ICER would be ~50,000 USD. If MODY prevalence was >30%, the testing policy was cost saving. Reducing genetic testing costs to 700 USD also resulted in an ICER of ~50,000 USD. CONCLUSIONS Our simulated model suggests that a policy of testing for MODY in selected populations is cost-effective for the U.S. based on contemporary ICER thresholds. Higher prevalence of MODY in the tested population or decreased testing costs would enhance cost-effectiveness. Our results make a compelling argument for routine coverage of genetic testing in patients with high clinical suspicion of MODY.

Indexed as

Cost-Benefit AnalysisModels, TheoreticalAdultCohort StudiesDiabetes Mellitus, Type 2FemaleGenetic TestingGenomicsGerminal Center KinasesHepatocyte Nuclear Factor 1-alphaHepatocyte Nuclear Factor 4HumansMaleOutcome Assessment, Health CarePrecision MedicineProtein Serine-Threonine KinasesGerminal Center KinasesHepatocyte Nuclear Factor 1-alphaHepatocyte Nuclear Factor 4HNF1A protein, humanHNF4A protein, humanProtein Serine-Threonine KinasesSulfonylurea Compounds

Identifiers

PMID24026547
PMCPMC3867988
OpenAlexW2115659841

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.