ArticleOrphanet journal of rare diseases2016
The rare and undiagnosed diseases diagnostic service - application of massively parallel sequencing in a state-wide clinical service.
Article in Orphanet journal of rare diseases, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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Who cites it
33 citing papers in PubMed.
- Genetic disorders and congenital anomalies in Nigeria: a scoping review.Journal of community genetics · 2026Review
- Optimizing regional rare disease management systems within China's policy framework: practical insights from the shantou experience.Orphanet journal of rare diseases · 2026Review
- Joint processing of long- and short-read sequencing data with deep learning improves variant calling.Cell reports methods · 2025Article
- Single-cell metabolomics in rare disease: From technology to disease.Intractable & rare diseases research · 2024Review
- Beyond the exome: What's next in diagnostic testing for Mendelian conditions.American journal of human genetics · 2023Review
- Requirements analysis for an AI-based clinical decision support system for general practitioners: a user-centered design process.BMC medical informatics and decision making · 2023Article
- Article
- Surfacing undiagnosed disease: consideration, counting and coding.Frontiers in pediatrics · 2023Review
- A guide for the diagnosis of rare and undiagnosed disease: beyond the exome.Genome medicine · 2022Review
- Rare disease emerging as a global public health priority.Frontiers in public health · 2022Review
- mEDUrare: Supporting Integrated Care for Rare Diseases by Better Connecting Health and Education Through Policy.The Yale journal of biology and medicine · 2021Review
- Rare disease awareness and perspectives of physicians in China: a questionnaire-based study.Orphanet journal of rare diseases · 2021Article
- A flexible computational pipeline for research analyses of unsolved clinical exome cases.NPJ genomic medicine · 2020Article
- Interviews with experts in rare diseases for the development of clinical decision support system software - a qualitative study.BMC medical informatics and decision making · 2020Article
- Cost-effectiveness analysis of using the TBX6-associated congenital scoliosis risk score (TACScore) in genetic diagnosis of congenital scoliosis.Orphanet journal of rare diseases · 2020Article
- Equitable Expanded Carrier Screening Needs Indigenous Clinical and Population Genomic Data.American journal of human genetics · 2020Article
- Human germline genome editing is illegal in Canada, but could it be desirable for some members of the rare disease community?Journal of community genetics · 2020Review
- A Review of Health Economic Studies Comparing Traditional and Massively Parallel Sequencing Diagnostic Pathways for Suspected Genetic Disorders.PharmacoEconomics · 2020Review
- Genomic profiling of 553 uncharacterized neurodevelopment patients reveals a high proportion of recessive pathogenic variant carriers in an outbred population.Scientific reports · 2020Article
- SMART Work Design: Accelerating the Diagnosis of Rare Diseases in the Western Australian Undiagnosed Diseases Program.Frontiers in pediatrics · 2020Article
Corrections and comments
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Authors and funding
25 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe Rare and Undiagnosed Diseases Diagnostic Service (RUDDS) refers to a genomic diagnostic platform operating within the Western Australian Government clinical services delivered through Genetic Services of Western Australia (GSWA). GSWA has provided a state-wide service for clinical genetic care for 28 years and it serves a population of 2.5 million people across a geographical area of 2.5milion Km(2). Within this context, GSWA has established a clinically integrated genomic diagnostic platform in partnership with other public health system managers and service providers, including but not limited to the Office of Population Health Genomics, Diagnostic Genomics (PathWest Laboratories) and with executive level support from the Department of Health. Herein we describe report presents the components of this service that are most relevant to the heterogeneity of paediatric clinical genetic care.
resultsBriefly the platform : i) offers multiple options including non-genetic testing; monogenic and genomic (targeted in silico filtered and whole exome) analysis; and matchmaking; ii) is delivered in a patient-centric manner that is resonant with the patient journey, it has multiple points for entry, exit and re-entry to allow people access to information they can use, when they want to receive it; iii) is synchronous with precision phenotyping methods; iv) captures new knowledge, including multiple expert review; v) is integrated with current translational genomic research activities and best practice; and vi) is designed for flexibility for interactive generation of, and integration with, clinical research for diagnostics, community engagement, policy and models of care.
conclusionThe RUDDS has been established as part of routine clinical genetic services and is thus sustainable, equitably managed and seeks to translate new knowledge into efficient diagnostics and improved health for the whole community.
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