Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN).
Genetic testing
Imprinting disorders
Rare endocrine conditions
Short stature - glucose and insulin homeostasis - Hypogonadotropic hypogonadism - differences/disorders of sex development
Journal
Orphanet journal of rare diseases
ISSN: 1750-1172
Titre abrégé: Orphanet J Rare Dis
Pays: England
ID NLM: 101266602
Informations de publication
Date de publication:
08 06 2020
08 06 2020
Historique:
received:
06
03
2020
accepted:
25
05
2020
entrez:
10
6
2020
pubmed:
10
6
2020
medline:
22
6
2021
Statut:
epublish
Résumé
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. 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. 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.
Sections du résumé
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.
Identifiants
pubmed: 32513286
doi: 10.1186/s13023-020-01420-w
pii: 10.1186/s13023-020-01420-w
pmc: PMC7278165
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
144Investigateurs
Stefan Riedl
(S)
Birgit Rami-Merhar
(B)
Greisa Vila
(G)
Sabina Baumgartner-Parzner
(S)
Walter Bonfig
(W)
Claudine Heinrichs
(C)
Dominique Maiter
(D)
Inge Gies
(I)
Martine Cools
(M)
Kristina Casteels
(K)
Albert Beckers
(A)
Sabina Zacharieva
(S)
Violeta Iotova
(V)
Tomislav Jukic
(T)
Dario Rahelic
(D)
Vassos Neocleous
(V)
Leonidas Phylactou
(L)
Michal Krsek
(M)
Jan Lebl
(J)
Claus Gravholt
(C)
Anders Juul
(A)
Vallo Tillmann
(V)
Vallo Volke
(V)
Tapani Ebeling
(T)
Thierry Brue
(T)
Patrice Rodien
(P)
Jérôme Bertherat
(J)
Christine Poitou Bernert
(CP)
Philippe Touraine
(P)
Philippe Chanson
(P)
Michel Polak
(M)
Maithe Tauber
(M)
Thomas Eggermann
(T)
Joachim Spranger
(J)
Dagmar Fuhrer
(D)
Thomas Danne
(T)
Olaf Hiort
(O)
Klaus Mohnike
(K)
Dirk Prawitt
(D)
Markus Luster
(M)
Nicole Reisch
(N)
Martin Reincke
(M)
Julia Rohayem
(J)
Martin Fassnacht
(M)
Miklós Tóth
(M)
Alessandra Cassio
(A)
Sonia Toni
(S)
Csilla Krausz
(C)
Barbara Piccini
(B)
Diego Ferone
(D)
Gianni Russo
(G)
Luca Persani
(L)
Annamaria Colao
(A)
Mariacarolina Salerno
(M)
Marco Boscaro
(M)
Carla Scaroni
(C)
Ferruccio Santini
(F)
Giovanni Ceccarini
(G)
Ezio Ghigo
(E)
Iveta Dzivite-Krisane
(I)
Vita Rovite
(V)
Lauma Janozola
(L)
Rasa Verkauskiene
(R)
Michael Witsch
(M)
James Clark
(J)
Johannes Romijn
(J)
Thera Links
(T)
Nienke Biermasz
(N)
Sabine Hannema
(S)
Bas Havekes
(B)
Hedi Claahsen-van der Grinten
(HC)
Henri Timmers
(H)
Robin Peeters
(R)
Gerlof Valk
(G)
A A Verrijn Stuart
(AAV)
Harm Haak
(H)
Eystein Husebye
(E)
Jens Bollerslev
(J)
Barbara Jarzab
(B)
Agnieszka 'Szypowska
(A)
João-Filipe Raposo
(JF)
Dana Craiu
(D)
Doina Piciu
(D)
Ludmila Kostalova
(L)
Jarmila Vojtková
(J)
Tadej Battelino
(T)
Roque Cardona-Hernandez
(R)
Diego Yeste
(D)
Sonia Gaztambide
(S)
Anna Nordenström
(A)
Neil Gittoes
(N)
Trevor Cole
(T)
Elizabeth Crowne
(E)
Faisal Ahmed
(F)
Mohammed Didi
(M)
Marta Korbonits
(M)
Mehul Dattani
(M)
Peter Clayton
(P)
Justin Davies
(J)
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