TRIAGE-GS: protocol for a randomised controlled trial of a genomics-first approach to rare disease diagnosis for patients awaiting assessment by a clinical geneticist

Introduction Rare diseases (RD) are collectively common and often genetic. Families value and can benefit from precise molecular diagnoses. Prolonged diagnostic odysseys exacerbate the burden of RD on patients, families and the healthcare system. Genome sequencing (GS) is a near-comprehensive test f...

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الحاوية / القاعدة:	BMJ Open
المؤلفون الرئيسيون:	Christian R Marshall, Sonya Elango, Salma Shickh, Raymond H Kim, Kym M Boycott, Wendy J Ungar, Jasmin Bhawra, Viji Venkataramanan, Robin Z Hayeems, Gregory Costain, Caitlin Chisholm, Taila Hartley, Roberto Mendoza-Londono, Martin Somerville, Oana Caluseriu, Stacy Hewson, Kaitlin J Stanley, Meredith K Gillespie, Natalie del Signore, Gordon McSheffrey, Sarah L Sawyer, Alexandre White-Brown, Stephanie Telesca
التنسيق:	مقال
اللغة:	الإنجليزية
منشور في:	BMJ Publishing Group 2025-08-01
الوصول للمادة أونلاين:	https://bmjopen.bmj.com/content/15/8/e107603.full