Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases.

Autor: van Karnebeek CDM; Departments of Pediatrics and Human Genetics, Emma Center for Personalized Medicine, Amsterdam Gastro-Enterology Endocrinology Metabolism, Amsterdam University Medical Centers, Amsterdam, The Netherlands. c.d.vankarnebeek@amsterdamumc.nl., O'Donnell-Luria A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, USA., Baynam G; Aix Marseille Univ, INSERM, Marseille Medical Genetics, MMG, Marseille, France., Baudot A; Aix Marseille Univ, INSERM, Marseille Medical Genetics, MMG, Marseille, France., Groza T; Rare Care Centre, Perth Children's Hospital and Western Australian Register of Developmental Anomalies, King Edward Memorial Hospital, Perth, Australia.; European Molecular Biology Laboratory (EMBL-EBI), European Bioinformatics Institute, Hinxton, UK., Jans JJM; Department of Genetics, Section Metabolic Diagnostics, University Medical Center Utrecht, Utrecht, The Netherlands., Lassmann T; Telethon Kids Institute, Nedlands, Australia., Letinturier MCV; IRDiRC Scientific Secretariat, French National Institute of Health and Medical Research (INSERM), Paris, France., Montgomery SB; Stanford University School of Medicine, Stanford, USA., Robinson PN; The Jackson Laboratory, Farmington, CT, USA., Sansen S; Sanofi, Diegem, Belgium., Mehrian-Shai R; Pediatric Brain Cancer Molecular Lab, Sheba Medical Center, Ramat Gan, Israel., Steward C; Genomics England, London, UK., Kosaki K; Keio University, Minato, Japan., Durao P; The Cure and Action for Tay-Sachs (CATS) Foundation, Altringham, UK., Sadikovic B; Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, Canada.
Jazyk: angličtina
Zdroj: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Sep 27; Vol. 19 (1), pp. 357. Date of Electronic Publication: 2024 Sep 27.
DOI: 10.1186/s13023-024-03361-0
Abstrakt: Genetic diagnosis plays a crucial role in rare diseases, particularly with the increasing availability of emerging and accessible treatments. The International Rare Diseases Research Consortium (IRDiRC) has set its primary goal as: "Ensuring that all patients who present with a suspected rare disease receive a diagnosis within one year if their disorder is documented in the medical literature". Despite significant advances in genomic sequencing technologies, more than half of the patients with suspected Mendelian disorders remain undiagnosed. In response, IRDiRC proposes the establishment of "a globally coordinated diagnostic and research pipeline". To help facilitate this, IRDiRC formed the Task Force on Integrating New Technologies for Rare Disease Diagnosis. This multi-stakeholder Task Force aims to provide an overview of the current state of innovative diagnostic technologies for clinicians and researchers, focusing on the patient's diagnostic journey. Herein, we provide an overview of a broad spectrum of emerging diagnostic technologies involving genomics, epigenomics and multi-omics, functional testing and model systems, data sharing, bioinformatics, and Artificial Intelligence (AI), highlighting their advantages, limitations, and the current state of clinical adaption. We provide expert recommendations outlining the stepwise application of these innovative technologies in the diagnostic pathways while considering global differences in accessibility. The importance of FAIR (Findability, Accessibility, Interoperability, and Reusability) and CARE (Collective benefit, Authority to control, Responsibility, and Ethics) data management is emphasized, along with the need for enhanced and continuing education in medical genomics. We provide a perspective on future technological developments in genome diagnostics and their integration into clinical practice. Lastly, we summarize the challenges related to genomic diversity and accessibility, highlighting the significance of innovative diagnostic technologies, global collaboration, and equitable access to diagnosis and treatment for people living with rare disease.
(© 2024. The Author(s).)
Databáze: MEDLINE
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