A Web-Based Registry for Familial Hypercholesterolaemia

Kathryn R Napier; Jing Pang; Leanne Lamont; Caroline E Walker; Hugh Js Dawkins; Adam A Hunter; Frank M van Bockxmeer; Gerald F Watts; Matthew I Bellgard

doi:10.1016/j.hlc.2016.10.019

A Web-Based Registry for Familial Hypercholesterolaemia

Heart Lung Circ. 2017 Jun;26(6):635-639. doi: 10.1016/j.hlc.2016.10.019. Epub 2016 Nov 30.

Authors

Kathryn R Napier¹, Jing Pang², Leanne Lamont³, Caroline E Walker³, Hugh Js Dawkins⁴, Adam A Hunter¹, Frank M van Bockxmeer⁵, Gerald F Watts⁶, Matthew I Bellgard⁷

Affiliations

¹ Centre for Comparative Genomics, Murdoch University, Perth, WA, Australia.
² School of Medicine and Pharmacology, University of Western Australia, Perth, WA, Australia.
³ Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, WA, Australia.
⁴ 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.
⁵ Department of Clinical Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital, Perth, WA, Australia; School of Surgery, University of Western Australia, Perth, WA, Australia.
⁶ School of Medicine and Pharmacology, University of Western Australia, Perth, WA, Australia; Lipid Disorders Clinic, Cardiometabolic Service, Royal Perth Hospital, Perth, WA, Australia.
⁷ Centre for Comparative Genomics, Murdoch University, Perth, WA, Australia. Electronic address: mbellgard@ccg.murdoch.edu.au.

PMID: 28065523
DOI: 10.1016/j.hlc.2016.10.019

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.

Keywords: Disease registry; Familial hypercholesterolaemia; Interoperable; Model of care; Open source; Registry framework.

MeSH terms

Australia / epidemiology
Delivery of Health Care*
Female
Humans
Hyperlipoproteinemia Type II / epidemiology*
Hyperlipoproteinemia Type II / therapy
Internet*
Male
Registries*