Academic Journal
Comprehensive genetic testing approaches as the basis for personalized management of growth disturbances: current status and perspectives
| العنوان: | Comprehensive genetic testing approaches as the basis for personalized management of growth disturbances: current status and perspectives |
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| المؤلفون: | van der Kaay, Danielle Christine Maria, Rochtus, Anne, Binder, Gerhard, Kurth, Ingo, Prawitt, Dirk, Netchine, Irène, Johannsson, Gudmundur, Hokken-Koelega, Anita, C S, Elbracht, Miriam, Eggermann, Thomas |
| المساهمون: | Erasmus University Medical Center Rotterdam (Erasmus MC), University Hospitals Leuven Leuven, Eberhard Karls Universität Tübingen = University of Tübingen, Universitätsklinikum RWTH Aachen - University Hospital Aachen Aachen, Germany (UKA), RWTH Aachen University = Rheinisch-Westfälische Technische Hochschule Aachen (RWTH Aachen), University Medical Center Mainz, Johannes Gutenberg - Universität Mainz = Johannes Gutenberg University (JGU), Centre de Recherche Saint-Antoine (CRSA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Göteborgs Universitet = University of Gothenburg (GU), Sahlgrenska University Hospital Gothenburg |
| المصدر: | EISSN: 2049-3614 ; Endocrine Connections ; https://hal.science/hal-04026973 ; Endocrine Connections, 2022, 11 (11), ⟨10.1530/EC-22-0277⟩ |
| بيانات النشر: | CCSD BioScientifica Ltd. |
| سنة النشر: | 2022 |
| مصطلحات موضوعية: | genetic testing, genome medicine, growth disturbances, growth retardation, interdisciplinary clinical management, overgrowth, [SDV]Life Sciences [q-bio] |
| الوصف: | International audience ; 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. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| Relation: | info:eu-repo/semantics/altIdentifier/pmid/36064195; PUBMED: 36064195; PUBMEDCENTRAL: PMC9578069 |
| DOI: | 10.1530/EC-22-0277 |
| الاتاحة: | https://hal.science/hal-04026973 https://hal.science/hal-04026973v1/document https://hal.science/hal-04026973v1/file/van%20der%20Kaay%202022%20Endoc%20Connect.pdf https://doi.org/10.1530/EC-22-0277 |
| Rights: | info:eu-repo/semantics/OpenAccess |
| رقم الانضمام: | edsbas.3D381106 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1530/EC-22-0277 |
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