• Open Access

Role of international registries in enhancing the care of familial hypercholesterolaemia

Authors

  • Emma Hammond BSc PhD,

    1. Office of Population Health Genomics, Public Health and Clinical Services Division, Western Australian Department of Health, Perth, Western Australia
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  • Gerald F Watts DSc FRACP,

    1. Lipid Disorders Clinic, Royal Perth Hospital, School of Medicine and Pharmacology, University of Western Australia, Nedlands, Western Australia, Australia
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  • Yaffa Rubinstein BSc PhD,

    1. Office of Rare Disease Research, National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, Maryland, USA
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  • Waleed Farid BSc,

    1. Familial Hypercholesterolaemia Family Support Group of Western Australia, Perth, Western Australia, Australia
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  • Michael Livingston MD,

    1. The International FH Foundation, London, UK
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  • Joshua W Knowles MD PhD,

    1. Division of Cardiovascular Medicine, Stanford University, Pasadena, California, USA
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  • Hanns Lochmüller MD,

    1. Institute of Genetic Medicine, Newcastle University, Newcastle, UK
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  • Matthew Bellgard BSc PhD,

    1. Centre for Comparative Genomics, Murdoch University, Perth, Western Australia
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  • Hugh JS Dawkins BSc PhD

    Corresponding author
    1. Office of Population Health Genomics, Public Health and Clinical Services Division, Western Australian Department of Health, Perth, Western Australia
    2. Centre for Comparative Genomics, Murdoch University, Perth, Western Australia
    3. School of Pathology and Laboratory Medicine, University of Western Australia, Nedlands, Western Australia
    4. Curtin Health Innovation Research Institute, Curtin University of Technology, Perth, Western Australia, Australia
    • Correspondence: Professor Hugh JS Dawkins, Office of Population Health Genomics, Public Health and Clinical Services Division, Western Australian Department of Health, Level 3C, 189 Royal Street, Perth, WA 6004, Australia. Email: hugh.dawkins@health.wa.gov.au

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Abstract

Familial hypercholesterolaemia (FH) is a relatively common genetic disorder associated with high risk of coronary heart disease that is preventable by early diagnosis and treatment. In a previous article, we reviewed the evidence for clinical management, models of care and health economic evaluations. The present commentary emphasises that collective action is needed to strengthen our approaches to evidence-based care, including better diagnosis and access to effective therapies. We detail how contemporary innovations in inter-operable, web-based, open-source and secure registries can provide the supporting infrastructure to: (i) address a current gap in the flow of data for measuring the quality of healthcare; (ii) support basic research through provision of high-quality, de-identified aggregate data; (iii) enable equitable access to clinical trials; and (iv) support efforts to disseminate evidence for best practice and information for care services. We describe how these aspects of enabling infrastructure will be incorporated into the development of a National FH Registry for Australasia, and proffer that a coordinated response to FH would be enhanced through a global network of inter-operable registries.

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