Initiating an undiagnosed diseases program in the Western Australian public health system

Abstract

BackgroundNew approaches are required to address the needs of complex undiagnosed diseases patients. These approaches include clinical genomic diagnostic pipelines, utilizing intra- and multi-disciplinary platforms, as well as specialty-specific genomic clinics. Both are advancing diagnostic rates. However, complementary cross-disciplinary approaches are also critical to address those patients with multisystem disorders who traverse the bounds of multiple specialties and remain undiagnosed despite existing intra-specialty and genomic-focused approaches. The diagnostic possibilities of undiagnosed diseases include genetic and non-genetic conditions. The focus on genetic diseases addresses some of these disorders, however a cross-disciplinary approach is needed that also simultaneously addresses other disorder types. Herein, we describe the initiation and summary outcomes of a public health system approach for complex undiagnosed patients - the Undiagnosed Diseases Program-Western Australia (UDP-WA).ResultsBriefly the UDP-WA is: i) one of a complementary suite of approaches that is being delivered within health service, and with community engagement, to address the needs of those with severe undiagnosed diseases; ii) delivered within a public health system to support equitable access to health care, including for those from remote and regional areas; iii) providing diagnoses and improved patient care; iv) delivering a platform for in-service and real time genomic and phenomic education for clinicians that traverses a diverse range of specialties; v) retaining and recapturing clinical expertise; vi) supporting the education of junior and more senior medical staff; vii) designed to integrate with clinical translational research; and viii) is supporting greater connectedness for patients, families and medical staff.ConclusionThe UDP-WA has been initiated in the public health system to complement existing clinical genomic approaches; it has been targeted to those with a specific diagnostic need, and initiated by redirecting existing clinical and financial resources. The UDP-WA supports the provision of equitable and sustainable diagnostics and simultaneously supports capacity building in clinical care and translational research, for those with undiagnosed, typically rare, conditions.Electronic supplementary materialThe online version of this article (doi:10.1186/s13023-017-0619-z) contains supplementary material, which is available to authorized users.

Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research

“…A number of institutes and organizations around the world are actively engaged in undiagnosed rare diseases research: Japan [ Initiative on Rare and Undiagnosed Diseases (IRUD) ]; Italy ( Telethon Undiagnosed Diseases Program ); and Australia and New Zealand [Undiagnosed Diseases Program—Australia and New Zealand ( Baynam et al 2017 )]. Recent establishment of large international consortia, such as the Undiagnosed Diseases Network International (UDNI) and the International Rare Diseases Research Consortium (IRDiRC) , is beginning to facilitate interactions and information exchange among undiagnosed disease researchers worldwide.…”

Meeting Patients’ Right to the Correct Diagnosis: Ongoing International Initiatives on Undiagnosed Rare Diseases and Ethical and Social Issues

“…Modifications of this model are being used by other UDP programs worldwide [ 11 , 67 , 68 ] and modified taking into account the resources and organization of healthcare services in each country. Despite this, the US UDP model has also been criticized for being successful in only a small proportion of the patients evaluated, for not necessarily resulting in the development of a management plan, and for being funded by the NIH “without any consideration of cost” [ 69 ].…”

Silver Russel syndrome in an aboriginal patient from Australia

“…After extensive investigation including investigations for SRS (see Supporting Information) at 3 years of age, the proband was referred to the Undiagnosed Diseases Program, WA (Baynam et al, ).…”