{"title":"Rare Care - Cross-Sector Care Coordination.","authors":"Gareth Baynam, Joanne Siffleet, Theresa Abbott, Sue Baker, Daniella Dye, Amanda Newell, Stephanie Broley, Kaila Stevens","doi":"10.1016/j.ejmg.2025.104995","DOIUrl":null,"url":null,"abstract":"<p><p>Rare and undiagnosed diseases collectively represent a global health priority, presenting distinct challenges for healthcare systems due to their low prevalence, cumulative frequency, and complex care requirements. The impact of rare and undiagnosed diseases on children and their families extends beyond physical and mental health, affecting every aspect of their lives. This paper outlines the development of an innovative Model of Care that emphasises cross-sector care coordination as an approach to enhance the health and well-being of Western Australian children living with rare and undiagnosed diseases. Detailing insights gained will support and guide healthcare professionals to create services that improve outcomes for people living with rare diseases and undiagnosed diseases and their families.</p>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":" ","pages":"104995"},"PeriodicalIF":1.6000,"publicationDate":"2025-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"European journal of medical genetics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1016/j.ejmg.2025.104995","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0
Abstract
Rare and undiagnosed diseases collectively represent a global health priority, presenting distinct challenges for healthcare systems due to their low prevalence, cumulative frequency, and complex care requirements. The impact of rare and undiagnosed diseases on children and their families extends beyond physical and mental health, affecting every aspect of their lives. This paper outlines the development of an innovative Model of Care that emphasises cross-sector care coordination as an approach to enhance the health and well-being of Western Australian children living with rare and undiagnosed diseases. Detailing insights gained will support and guide healthcare professionals to create services that improve outcomes for people living with rare diseases and undiagnosed diseases and their families.
期刊介绍:
The European Journal of Medical Genetics (EJMG) is a peer-reviewed journal that publishes articles in English on various aspects of human and medical genetics and of the genetics of experimental models.
Original clinical and experimental research articles, short clinical reports, review articles and letters to the editor are welcome on topics such as :
• Dysmorphology and syndrome delineation
• Molecular genetics and molecular cytogenetics of inherited disorders
• Clinical applications of genomics and nextgen sequencing technologies
• Syndromal cancer genetics
• Behavioral genetics
• Community genetics
• Fetal pathology and prenatal diagnosis
• Genetic counseling.