Towards a systematic nationwide screening strategy for MODY.

2.50
Hdl Handle:
http://hdl.handle.net/11287/620206
Title:
Towards a systematic nationwide screening strategy for MODY.
Authors:
Shields, Beverley M.; Colclough, Kevin
Abstract:
MODY is an early-onset monogenic form of diabetes. Correctly identifying MODY is of considerable importance as diagnosing the specific genetic subtype can inform the optimal treatment, with many patients being able to discontinue unnecessary insulin treatment. Diagnostic molecular genetic testing to confirm MODY is expensive, so screening strategies are required to identify the most appropriate patients for testing. In this issue of Diabetologia, Johansson and colleagues (DOI 10.1007/s00125-016-4167-1 ) describe a nationwide systematic screening approach to identify individuals with MODY in the paediatric age range. They focused testing on patients negative for both GAD and islet antigen 2 (IA-2) islet autoantibodies, thereby ruling out those with markers of type 1 diabetes, the most common form of diabetes in this age group. This commentary discusses the advantages and limitations of the approach, and the caution required when interpreting variants of uncertain pathogenicity identified from testing whole populations rather than targeting only patients with a strong MODY phenotype.
Citation:
Towards a systematic nationwide screening strategy for MODY. 2017 Diabetologia
Publisher:
Springer
Journal:
Diabetologia
Issue Date:
29-Jan-2017
URI:
http://hdl.handle.net/11287/620206
DOI:
10.1007/s00125-017-4213-7
PubMed ID:
28132100
Additional Links:
https://dx.doi.org/10.1007/s00125-017-4213-7
Type:
Editorial
Language:
en
ISSN:
1432-0428
Appears in Collections:
2017 RD&E publications

Full metadata record

DC FieldValue Language
dc.contributor.authorShields, Beverley M.en
dc.contributor.authorColclough, Kevinen
dc.date.accessioned2017-02-06T15:00:07Z-
dc.date.available2017-02-06T15:00:07Z-
dc.date.issued2017-01-29-
dc.identifier.citationTowards a systematic nationwide screening strategy for MODY. 2017 Diabetologiaen
dc.identifier.issn1432-0428-
dc.identifier.pmid28132100-
dc.identifier.doi10.1007/s00125-017-4213-7-
dc.identifier.urihttp://hdl.handle.net/11287/620206-
dc.description.abstractMODY is an early-onset monogenic form of diabetes. Correctly identifying MODY is of considerable importance as diagnosing the specific genetic subtype can inform the optimal treatment, with many patients being able to discontinue unnecessary insulin treatment. Diagnostic molecular genetic testing to confirm MODY is expensive, so screening strategies are required to identify the most appropriate patients for testing. In this issue of Diabetologia, Johansson and colleagues (DOI 10.1007/s00125-016-4167-1 ) describe a nationwide systematic screening approach to identify individuals with MODY in the paediatric age range. They focused testing on patients negative for both GAD and islet antigen 2 (IA-2) islet autoantibodies, thereby ruling out those with markers of type 1 diabetes, the most common form of diabetes in this age group. This commentary discusses the advantages and limitations of the approach, and the caution required when interpreting variants of uncertain pathogenicity identified from testing whole populations rather than targeting only patients with a strong MODY phenotype.en
dc.language.isoenen
dc.publisherSpringeren
dc.relation.urlhttps://dx.doi.org/10.1007/s00125-017-4213-7en
dc.rightsArchived with thanks to Diabetologiaen
dc.subjectWessex Classification Subject Headings::Endocrinology::Diabetesen
dc.titleTowards a systematic nationwide screening strategy for MODY.en
dc.typeEditorialen
dc.identifier.journalDiabetologiaen
dc.type.versionIn press (epub ahead of print)en

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