Evidence map›Paper›PMID 37033247›Full record

ArticleFrontiers in endocrinology2023

Monogenic diabetes in New Zealand - An audit based revision of the monogenic diabetes genetic testing pathway in New Zealand.

Francesca Harrington, Mark Greenslade, Kevin Colclough, Ryan Paul, Craig Jefferies, Rinki Murphy

Open access · goldAbstract read
In one paragraph

Article in Frontiers in endocrinology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
1.9field-weighted citation impact, top 15% 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

4 citing papers in PubMed, 6 citations in OpenAlex.

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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

6 authors at 4 institutions in 2 countries.

Francesca HarringtonDiagnostic Genetics, Department of Pathology and Laboratory Medicine, Te Whatu Ora - Health New Zealand, Te Toka Tumai Auckland, Auckland, New Zealand.
Mark GreensladeDiagnostic Genetics, Department of Pathology and Laboratory Medicine, Te Whatu Ora - Health New Zealand, Te Toka Tumai Auckland, Auckland, New Zealand.
Kevin ColcloughExeter Genomics Laboratory, Royal Devon University Healthcare National Health Service (NHS) Foundation Trust, Exeter, United Kingdom.
Ryan PaulTe Huataki Waiora School of Health, University of Waikato, Hamilton, New Zealand.
Craig JefferiesStarship Children's Health, Te Whatu Ora - Health New Zealand, Te Toka Tumai Auckland, Auckland, New Zealand.
Rinki MurphyDepartment of Medicine, University of Auckland, Auckland, New Zealand.
Auckland District Health Board · NZUniversity of Auckland · NZRoyal Devon & Exeter NHS Foundation Trust · GBUniversity of Waikato · NZ

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Aims: To evaluate (a) the diagnostic yield of genetic testing for monogenic diabetes when using single gene and gene panel-based testing approaches in the New Zealand (NZ) population, (b) whether the MODY (Maturity Onset Diabetes of the Young) pre-test probability calculator can be used to guide referrals for testing in NZ, (c) the number of referrals for testing for Māori/Pacific ethnicities compared to NZ European, and (d) the volume of proband vs cascade tests being requested. Methods: A retrospective audit of 495 referrals, from NZ, for testing of monogenic diabetes genes was performed. Referrals sent to LabPlus (Auckland) laboratory for single gene testing or small multi-gene panel testing, or to the Exeter Genomics Laboratory, UK, for a large gene panel, received from January 2014 - December 2021 were included. Detection rates of single gene, small multi-gene and large gene panels (neonatal and non-neonatal), and cascade testing were analysed. Pre-test probability was calculated using the Exeter MODY probability calculator and ethnicity data was also collected. Results: The diagnostic detection rate varied across genes, from 32% in GCK, to 2% in Conclusions: A new monogenic diabetes testing algorithm for NZ is proposed, which directs clinicians to choose a large gene panel in patients without syndromic features who score a pre-test MODY probability of above 20%.

Indexed as

Diabetes Mellitus, Type 2Genetic TestingHumansMutationNew ZealandRetrospective StudiesAotearoa (New Zealand)genetic testinggenomicsMODYmonogenic diabetesNew Zealand

Identifiers

PMID37033247
PMCPMC10080040
OpenAlexW4360866767

What OpenQuestion holds

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LicenceCC BY
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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.