International Undiagnosed Diseases Programs (UDPs): components and outcomes.

Autor: Curic E; Discipline of Paediatrics and Child Health, Faculty of Medicine and Health, School of Clinical Medicine, University of New South Wales, Bright Alliance Building, Level 8, Randwick, NSW, Australia., Ewans L; Discipline of Paediatrics and Child Health, Faculty of Medicine and Health, School of Clinical Medicine, University of New South Wales, Bright Alliance Building, Level 8, Randwick, NSW, Australia.; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, NSW, Australia.; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia., Pysar R; Discipline of Paediatrics and Child Health, Faculty of Medicine and Health, School of Clinical Medicine, University of New South Wales, Bright Alliance Building, Level 8, Randwick, NSW, Australia.; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, NSW, Australia.; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, NSW, Australia., Taylan F; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden., Botto LD; Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA., Nordgren A; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.; Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden., Gahl W; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA., Palmer EE; Discipline of Paediatrics and Child Health, Faculty of Medicine and Health, School of Clinical Medicine, University of New South Wales, Bright Alliance Building, Level 8, Randwick, NSW, Australia. Elizabeth.palmer@unsw.edu.au.; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, NSW, Australia. Elizabeth.palmer@unsw.edu.au.
Jazyk: angličtina
Zdroj: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Nov 09; Vol. 18 (1), pp. 348. Date of Electronic Publication: 2023 Nov 09.
DOI: 10.1186/s13023-023-02966-1
Abstrakt: Over the last 15 years, Undiagnosed Diseases Programs have emerged to address the significant number of individuals with suspected but undiagnosed rare genetic diseases, integrating research and clinical care to optimize diagnostic outcomes. This narrative review summarizes the published literature surrounding Undiagnosed Diseases Programs worldwide, including thirteen studies that evaluate outcomes and two commentary papers. Commonalities in the diagnostic and research process of Undiagnosed Diseases Programs are explored through an appraisal of available literature. This exploration allowed for an assessment of the strengths and limitations of each of the six common steps, namely enrollment, comprehensive clinical phenotyping, research diagnostics, data sharing and matchmaking, results, and follow-up. Current literature highlights the potential utility of Undiagnosed Diseases Programs in research diagnostics. Since participants have often had extensive previous genetic studies, research pipelines allow for diagnostic approaches beyond exome or whole genome sequencing, through reanalysis using research-grade bioinformatics tools and multi-omics technologies. The overall diagnostic yield is presented by study, since different selection criteria at enrollment and reporting processes make comparisons challenging and not particularly informative. Nonetheless, diagnostic yield in an undiagnosed cohort reflects the potential of an Undiagnosed Diseases Program. Further comparisons and exploration of the outcomes of Undiagnosed Diseases Programs worldwide will allow for the development and improvement of the diagnostic and research process and in turn improve the value and utility of an Undiagnosed Diseases Program.
(© 2023. The Author(s).)
Databáze: MEDLINE
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