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Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN)

Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN)
Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN)
Background: with the development of molecular high-throughput assays (i.e. next generation sequencing), the knowledge on the contribution of genetic and epigenetic alterations to the etiology of inherited endocrine disorders has massively expanded. However, the rapid implementation of these new molecular tools in the diagnostic settings makes the interpretation of diagnostic data increasingly complex.

Main body: this joint paper of the ENDO-ERN members aims to overview chances, challenges, limitations and relevance of comprehensive genetic diagnostic testing in rare endocrine conditions in order to achieve an early molecular diagnosis. This early diagnosis of a genetically based endocrine disorder contributes to a precise management and helps the patients and their families in their self-determined planning of life. Furthermore, the identification of a causative (epi)genetic alteration allows an accurate prognosis of recurrence risks for family planning as the basis of genetic counselling. Asymptomatic carriers of pathogenic variants can be identified, and prenatal testing might be offered, where appropriate.

Conclusions: the decision on genetic testing in the diagnostic workup of endocrine disorders should be based on their appropriateness to reliably detect the disease-causing and -modifying mutation, their informational value, and cost-effectiveness. The future assessment of data from different omic approaches should be embedded in interdisciplinary discussions using all available clinical and molecular data.
1750-1172
Eggermann, Thomas
d2b7376b-cc1b-4dad-a874-302fc5b6a7c6
Elbracht, Miriam
b5b34045-5dbc-41c1-ad6c-c7db9d52b68a
Kurth, Ingo
6124a673-116a-4c03-a628-e016200d5251
Davies, Justin
9f18fcad-f488-4c72-ac23-c154995443a9
European Reference Network on Rare Endocrine Conditions
Eggermann, Thomas
d2b7376b-cc1b-4dad-a874-302fc5b6a7c6
Elbracht, Miriam
b5b34045-5dbc-41c1-ad6c-c7db9d52b68a
Kurth, Ingo
6124a673-116a-4c03-a628-e016200d5251
Davies, Justin
9f18fcad-f488-4c72-ac23-c154995443a9

Eggermann, Thomas, Elbracht, Miriam and Kurth, Ingo , European Reference Network on Rare Endocrine Conditions (2020) Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN). Orphanet Journal of Rare Diseases. (doi:10.1186/s13023-020-01420-w).

Record type: Article

Abstract

Background: with the development of molecular high-throughput assays (i.e. next generation sequencing), the knowledge on the contribution of genetic and epigenetic alterations to the etiology of inherited endocrine disorders has massively expanded. However, the rapid implementation of these new molecular tools in the diagnostic settings makes the interpretation of diagnostic data increasingly complex.

Main body: this joint paper of the ENDO-ERN members aims to overview chances, challenges, limitations and relevance of comprehensive genetic diagnostic testing in rare endocrine conditions in order to achieve an early molecular diagnosis. This early diagnosis of a genetically based endocrine disorder contributes to a precise management and helps the patients and their families in their self-determined planning of life. Furthermore, the identification of a causative (epi)genetic alteration allows an accurate prognosis of recurrence risks for family planning as the basis of genetic counselling. Asymptomatic carriers of pathogenic variants can be identified, and prenatal testing might be offered, where appropriate.

Conclusions: the decision on genetic testing in the diagnostic workup of endocrine disorders should be based on their appropriateness to reliably detect the disease-causing and -modifying mutation, their informational value, and cost-effectiveness. The future assessment of data from different omic approaches should be embedded in interdisciplinary discussions using all available clinical and molecular data.

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s13023-020-01420-w - Version of Record
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e-pub ahead of print date: 8 June 2020

Identifiers

Local EPrints ID: 450232
URI: http://eprints.soton.ac.uk/id/eprint/450232
ISSN: 1750-1172
PURE UUID: 00cfea1b-be7f-4769-a8e9-b3f01053e430

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Date deposited: 16 Jul 2021 16:35
Last modified: 27 Apr 2022 04:48

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Contributors

Author: Thomas Eggermann
Author: Miriam Elbracht
Author: Ingo Kurth
Author: Justin Davies
Corporate Author: European Reference Network on Rare Endocrine Conditions

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