Comprehensive genetic testing approaches as the basis for personalized management of growth disturbances: current status and perspectives

Danielle Christine Maria van der Kaay, Anne Rochtus, Gerhard Binder, Ingo Kurth, Dirk Prawitt, Irène Netchine, Gudmundur Johannsson, Anita C.S. Hokken-Koelega, Miriam Elbracht, Thomas Eggermann*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

3 Citations (Scopus)
16 Downloads (Pure)

Abstract

The implementation of high-throughput and deep sequencing methods in routine genetic diagnostics has significantly improved the diagnostic yield in patient cohorts with growth disturbances and becomes increasingly important as the prerequisite of personalized medicine. They provide considerable chances to identify even rare and unexpected situations; nevertheless, we must be aware of their limitations. A simple genetic test in the beginning of a testing cascade might also help to identify the genetic cause of specific growth disorders. However, the clinical picture of genetically caused growth disturbance phenotypes can vary widely, and there is a broad clinical overlap between different growth disturbance disorders. As a consequence, the clinical diagnosis and therewith connected the decision on the appropriate genetic test is often a challenge. In fact, the clinician asking for genetic testing has to weigh different aspects in this decision process, including appropriateness (single gene test, stepwise procedure, comprehensive testing), turnaround time as the basis for rapid intervention, and economic considerations. Therefore, a frequent question in that context is ‘what to test when’. In this review, we aim to review genetic testing strategies and their strengths and limitations and to raise awareness for the future implementation of interdisciplinary genome medicine in diagnoses, treatment, and counselling of growth disturbances.

Original languageEnglish
Article numbere220277
JournalEndocrine Connections
Volume11
Issue number11
Early online date10 Oct 2022
DOIs
Publication statusPublished - Nov 2022

Bibliographical note

Funding Information:
The authors are members of the European Reference Network on Rare Endocrine Conditions (https://endo-ern.eu/). Endo-ERN is a European Reference Network co-funded by the European Union’s 3rd Health Programme (CHAFEA FPA grant No 739527). T E is supported by the Deutsche Forschungsgemeinschaft (DFG, EG115/13-1). This publication has been supported by Endo-ERN, which is co-funded by the European Union’s 3rd Health Programme (CHAFEA Framework Partnership Agreement No. 739527).

Publisher Copyright:© 2022 The authors.

Fingerprint

Dive into the research topics of 'Comprehensive genetic testing approaches as the basis for personalized management of growth disturbances: current status and perspectives'. Together they form a unique fingerprint.

Cite this