Design of the Familial Hypercholesterolaemia Australasia Network Registry: Creating Opportunities for Greater International Collaboration.
Familial Hypercholesterolemia (FH) is the most common and serious monogenic disorder of lipoprotein metabolism that leads to premature coronary heart disease. There are over 65,000 people estimated to have FH in Australia, but many remain undiagnosed. Patients with FH are often under-treated, but with early detection, cascade family testing and adequate treatment, patient outcomes can improve. Patient registries are key tools for providing new information on FH and enhancing care worldwide. The development and design of the FH Australasia Network Registry is a crucial component in the comprehensive model of care for FH, which aims to provide a standardized, high-quality and cost-effective system of care that is likely to have the highest impact on patient outcomes. Informed by stakeholder engagement, the FH Australasia Network Registry was collaboratively developed by government, patient and clinical networks and research groups. The open-source, web-based Rare Disease Registry Framework was the architecture chosen for this registry owing to its open-source standards, modular design, interoperability, scalability and security features; all these are key components required to meet the ever changing clinical demands across regions. This paper provides a high level blueprint for other countries and jurisdictions to help inform and map out the critical features of an FH registry to meet their particular health system needs.
Centre for Comparative Genomics, Murdoch University, Murdoch.
Matthew I
MI
Bellgard
Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia.
Caroline E
CE
Walker
Centre for Comparative Genomics, Murdoch University, Murdoch.
Kathryn R
KR
Napier
Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia.
Leanne
L
Lamont
Centre for Comparative Genomics, Murdoch University, Murdoch.
Adam A
AA
Hunter
Centre for Comparative Genomics, Murdoch University, Murdoch.
Lee
L
Render
Centre for Comparative Genomics, Murdoch University, Murdoch.
Maciej
M
Radochonski
School of Medicine, Faculty of Health and Medical Sciences, University of Western Australia.
Jing
J
Pang
Familial Hypercholesterolaemia Family Support Group of Western Australia.
Annette
A
Pedrotti
Sydney Medical School, University of Sydney.
David R
DR
Sullivan
School of Medicine, University of Queensland.
Karam
K
Kostner
Menzies Institute for Medical Research, University of Tasmania.
Warrick
W
Bishop
Canterbury Health Laboratories, University of Otago.
Peter M
PM
George
Austin Clinical School, University of Melbourne.
Richard C
RC
O'Brien
School of Pharmacy and Medical Sciences, University of South Australia.
Peter M
PM
Clifton
Department of Clinical Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital.|School of Surgery, University of Western Australia.
Frank M Van
FMV
Bockxmeer
South Australian Health and Medical Research Institute, University of Adelaide.
Stephen J
SJ
Nicholls
School of Medicine, Flinders University.
Ian
I
Hamilton-Craig
Centre for Comparative Genomics, Murdoch University, Murdoch.|Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia.|Centre for Population Health Research, Curtin University of Technology.|School of Pathology and Laboratory Medicine, University of Western Australia.
Hugh Js
HJ
Dawkins
School of Medicine, Faculty of Health and Medical Sciences, University of Western Australia.|Lipid Disorders Clinic, Cardiometabolic Service, Royal Perth Hospital.
Gerald F
GF
Watts
D044362:Australasia / Q000453:epidemiology; D002309:Cardiology / Q000379:methods; D003362:Cost-Benefit Analysis; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000191:economics / Q000453:epidemiology*; D007391:International Cooperation; D008875:Middle Aged; D016730:Program Development; D012042:Registries; D015203:Reproducibility of Results
Disease registry; Familial hypercholesterolaemia; Interoperable; Model of care; Registry framework