title: A Web-Based Registry for Familial Hypercholesterolaemia.
abstract: Familial hypercholesterolaemia (FH) is the most common and serious monogenic disorder of lipoprotein metabolism that leads to premature coronary heart disease. Patients with FH are often under-treated, and many remain undiagnosed. The deployment of the FH Australasia Network Registry is a crucial component of the comprehensive model of care for FH, which aims to provide a standardised, high-quality and cost-effective system of care that is likely to have the highest impact on patient outcomes. The FH Australasia Network Registry was customised using a registry framework that is an open source, interoperable system that enables the efficient customisation and deployment of national and international web-based disease registries that can be modified dynamically as registry requirements evolve. The FH Australasia Network Registry can be employed to improve health services for FH patients across the Australasia-Pacific region, through the collation of data to facilitate clinical service planning, clinical trials, clinical audits, and to inform clinical best practice.
authors.affiliation: Centre for Comparative Genomics, Murdoch University, Perth, WA, Australia.
authors.forename: Kathryn R
authors.initials: KR
authors.lastname: Napier
authors.affiliation: School of Medicine and Pharmacology, University of Western Australia, Perth, WA, Australia.
authors.forename: Jing
authors.initials: J
authors.lastname: Pang
authors.affiliation: Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, WA, Australia.
authors.forename: Leanne
authors.initials: L
authors.lastname: Lamont
authors.affiliation: Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, WA, Australia.
authors.forename: Caroline E
authors.initials: CE
authors.lastname: Walker
authors.affiliation: Centre for Comparative Genomics, Murdoch University, Perth, WA, Australia; Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, WA, Australia; Centre for Population Health Research, Curtin University of Technology, Perth, WA, Australia; School of Pathology and Laboratory Medicine, University of Western Australia, Perth, WA, Australia.
authors.forename: Hugh Js
authors.initials: HJ
authors.lastname: Dawkins
authors.affiliation: Centre for Comparative Genomics, Murdoch University, Perth, WA, Australia.
authors.forename: Adam A
authors.initials: AA
authors.lastname: Hunter
authors.affiliation: Department of Clinical Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital, Perth, WA, Australia; School of Surgery, University of Western Australia, Perth, WA, Australia.
authors.forename: Frank M van
authors.initials: FMV
authors.lastname: Bockxmeer
authors.affiliation: School of Medicine and Pharmacology, University of Western Australia, Perth, WA, Australia; Lipid Disorders Clinic, Cardiometabolic Service, Royal Perth Hospital, Perth, WA, Australia.
authors.forename: Gerald F
authors.initials: GF
authors.lastname: Watts
authors.affiliation: Centre for Comparative Genomics, Murdoch University, Perth, WA, Australia. Electronic address: mbellgard@ccg.murdoch.edu.au.
authors.forename: Matthew I
authors.initials: MI
authors.lastname: Bellgard
mesh_terms: D001315:Australia / Q000453:epidemiology; D003695:Delivery of Health Care; D005260:Female; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000453:epidemiology* / Q000628:therapy; D020407:Internet; D008297:Male; D012042:Registries
keywords: Disease registry; Familial hypercholesterolaemia; Interoperable; Model of care; Open source; Registry framework