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 language | English |
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Article number | e220277 |
Journal | Endocrine Connections |
Volume | 11 |
Issue number | 11 |
Early online date | 10 Oct 2022 |
DOIs | |
Publication status | Published - 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.