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

Artikel i vetenskaplig tidskrift
Författare T. Eggermann
M. Elbracht
I. Kurth
A. Juul
T. H. Johannsen
I. Netchine
G. Mastorakos
Gudmundur Johannsson
T. J. Musholt
M. Zenker
D. Prawitt
A. M. Pereira
O. Hiort
Publicerad i Orphanet Journal of Rare Diseases
Volym 15
Nummer/häfte 1
ISSN 1750-1172
Publiceringsår 2020
Publicerad vid Institutionen för medicin, avdelningen för invärtesmedicin och klinisk nutrition
Språk en
Länkar dx.doi.org/10.1186/s13023-020-01420...
Ämnesord Rare endocrine conditions, Genetic testing, Imprinting disorders, Short, stature, glucose and insulin homeostasis, Hypogonadotropic hypogonadism, differences, disorders of sex development, beckwith-wiedemann syndrome, management, diagnosis, challenges, prediction, variants, children, risk, Genetics & Heredity, Research & Experimental Medicine
Ämneskategorier Medicinsk genetik

Sammanfattning

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 differentomicapproaches should be embedded in interdisciplinary discussions using all available clinical and molecular data.

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