Genetics of monogenic diabetes: Present clinical challenges
Purpose of Review Monogenic forms of diabetes have specific treatments that differ from the standard care provided for type 1 and type 2 diabetes, making the appropriate diagnosis essential. In this review, we discuss current clinical challenges that remain, including improving case-finding strategi...
| Main Authors: | , |
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| Format: | Journal article |
| Language: | English |
| Published: |
Springer Science and Business Media LLC
2018
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| _version_ | 1826263158303490048 |
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| author | Misra, S Owen, KR |
| author_facet | Misra, S Owen, KR |
| author_sort | Misra, S |
| collection | OXFORD |
| description | Purpose of Review
Monogenic forms of diabetes have specific treatments that differ from the standard care provided for type 1 and type 2 diabetes, making the appropriate diagnosis essential. In this review, we discuss current clinical challenges that remain, including improving case-finding strategies, particularly those that have transethnic applicability, and understanding the interpretation of genetic variants as pathogenic, with clinically meaningful impacts.
Recent Findings
Biomarker approaches to the stratification for genetic testing now appear to be most effective in identifying cases of monogenic diabetes, and use of genetic risk scores may also prove useful. However, applicability in all ethnic groups is lacking. Challenges remain in the classification of genes as diabetes-causing and the interpretation of genetic variants at the clinical interface.
Summary
Since the discovery that genetic defects can cause neonatal or young-onset diabetes, multiple causal genes have been identified and there have been many advances in strategies to detect genetic forms of diabetes and their treatments. Approaches learnt from monogenic diabetes are now being translated to polygenic diabetes. |
| first_indexed | 2024-03-06T19:47:16Z |
| format | Journal article |
| id | oxford-uuid:22bb2a3d-8a7d-47e7-bfbe-e8c79da831d8 |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-06T19:47:16Z |
| publishDate | 2018 |
| publisher | Springer Science and Business Media LLC |
| record_format | dspace |
| spelling | oxford-uuid:22bb2a3d-8a7d-47e7-bfbe-e8c79da831d82022-03-26T11:40:23ZGenetics of monogenic diabetes: Present clinical challengesJournal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:22bb2a3d-8a7d-47e7-bfbe-e8c79da831d8EnglishSymplectic ElementsSpringer Science and Business Media LLC2018 Misra, SOwen, KRPurpose of Review Monogenic forms of diabetes have specific treatments that differ from the standard care provided for type 1 and type 2 diabetes, making the appropriate diagnosis essential. In this review, we discuss current clinical challenges that remain, including improving case-finding strategies, particularly those that have transethnic applicability, and understanding the interpretation of genetic variants as pathogenic, with clinically meaningful impacts. Recent Findings Biomarker approaches to the stratification for genetic testing now appear to be most effective in identifying cases of monogenic diabetes, and use of genetic risk scores may also prove useful. However, applicability in all ethnic groups is lacking. Challenges remain in the classification of genes as diabetes-causing and the interpretation of genetic variants at the clinical interface. Summary Since the discovery that genetic defects can cause neonatal or young-onset diabetes, multiple causal genes have been identified and there have been many advances in strategies to detect genetic forms of diabetes and their treatments. Approaches learnt from monogenic diabetes are now being translated to polygenic diabetes. |
| spellingShingle | Misra, S Owen, KR Genetics of monogenic diabetes: Present clinical challenges |
| title | Genetics of monogenic diabetes: Present clinical challenges |
| title_full | Genetics of monogenic diabetes: Present clinical challenges |
| title_fullStr | Genetics of monogenic diabetes: Present clinical challenges |
| title_full_unstemmed | Genetics of monogenic diabetes: Present clinical challenges |
| title_short | Genetics of monogenic diabetes: Present clinical challenges |
| title_sort | genetics of monogenic diabetes present clinical challenges |
| work_keys_str_mv | AT misras geneticsofmonogenicdiabetespresentclinicalchallenges AT owenkr geneticsofmonogenicdiabetespresentclinicalchallenges |