From: International Undiagnosed Diseases Programs (UDPs): components and outcomes
Goal | Key aspects |
---|---|
Enrolment | |
Equitable access to the UDP | • Broad recruitment from a range of clinical services • Inclusion of individuals involved in past non-diagnostic research • Clear inclusion/exclusion criteria, enabling individuals and clinicians to understand pathways to eligibility |
Phenotyping | Â |
Comprehensive understanding of individual phenotype | • Re-phenotyping within the program, ideally with a multidisciplinary team |
Research diagnostics | Â |
Extensive analysis of the affected individual’s genome and functional impact of detected variants of uncertain significance | • Use of unbiased genomic sequencing (ES or WGS) • Access to novel technologies (e.g., long read sequencing) and multiomics (e.g., RNA sequencing) • Pathway to functional studies as required to clarify pathogenicity of novel and uncertain findings • Periodic reanalysis of undiagnosed individuals |
Data sharing and matchmaking | Â |
Data-sharing to optimize chance of diagnosis | • Sharing to MME, UDNI or other diagnostic networks as part of diagnostic pipeline |
Results and follow-up | Â |
Clear procedure for return of results to individual | • Genetic counsellor involvement in return of results • Discussion of individual experience in UDP |