International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.
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ABSTRACT:
SUBMITTER: Boycott KM
PROVIDER: S-EPMC5420351 | biostudies-literature | 2017 May
REPOSITORIES: biostudies-literature
Publications
International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.
Boycott Kym M KM Rath Ana A Chong Jessica X JX Hartley Taila T Alkuraya Fowzan S FS Baynam Gareth G Brookes Anthony J AJ Brudno Michael M Carracedo Angel A den Dunnen Johan T JT Dyke Stephanie O M SOM Estivill Xavier X Goldblatt Jack J Gonthier Catherine C Groft Stephen C SC Gut Ivo I Hamosh Ada A Hieter Philip P Höhn Sophie S Hurles Matthew E ME Kaufmann Petra P Knoppers Bartha M BM Krischer Jeffrey P JP Macek Milan M Matthijs Gert G Olry Annie A Parker Samantha S Paschall Justin J Philippakis Anthony A AA Rehm Heidi L HL Robinson Peter N PN Sham Pak-Chung PC Stefanov Rumen R Taruscio Domenica D Unni Divya D Vanstone Megan R MR Zhang Feng F Brunner Han H Bamshad Michael J MJ Lochmüller Hanns H
American journal of human genetics 20170501 5
Provision of a molecularly confirmed diagnosis in a timely manner for children and adults with rare genetic diseases shortens their "diagnostic odyssey," improves disease management, and fosters genetic counseling with respect to recurrence risks while assuring reproductive choices. In a general clinical genetics setting, the current diagnostic rate is approximately 50%, but for those who do not receive a molecular diagnosis after the initial genetics evaluation, that rate is much lower. Diagnos ...[more]
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