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Familial hypercholesterolaemia: genetic testing in general practice and beyond
  1. Tom Brett1,2,
  2. Gerald Francis Watts3
  1. 1 General Practice and Primary Health Care Research Unit, School of Medicine, The University of Notre Dame Australia, Fremantle, Western Australia, Australia
  2. 2 General Practitioner, Mosman Park Medical Group, Perth, Western Australia, Australia
  3. 3 School of Medicine, Royal Perth Hospital, The University of Western Australia, Perth, Western Australia, Australia
  1. Correspondence to Professor Tom Brett, General Practice and Primary Health Care Research Unit, School of Medicine, The University of Notre Dame Australia, Fremantle 6160, Australia; tom.brett{at}

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Familial hypercholesterolaemia (FH) is a preventable cause of premature coronary artery disease and death, with significant potential impact on public health1 and meeting all criteria for screening for a condition. Early detection of FH rests on the premise that the burden of atherosclerotic cardiovascular disease due to genetically elevated low-density lipoprotein cholesterol begins at birth and accumulates over time, and that treatment in childhood prevents coronary events and reduces mortality.2

The public health importance of FH is also underpinned by knowledge that its prevalence is as high as 1:250.1 However, only 10% of people worldwide are currently recognised as having FH.2 A recent international global call to action3 has championed the need for improved screening and diagnosis.

To identify >90% of the population with FH requires multiple approaches, but integrating cascade testing of family members of index cases with some form of universal screening at younger ages may have the highest potential. Opportunistic, selective, systematic and universal screening strategies, employing phenotypic and genetic testing, are other approaches that are reported as cost-effective.2 More recently, whole population genetic screening has been proposed.

Genetic testing has several advantages: it improves precision of diagnosis and risk prediction, facilitates family counselling and cascade testing, and can improve adherence to therapy.4 General practice plays a key role in the detection of FH for several reasons, including ease of access to services, a preference for patients to receive treatment locally and awareness of intergenerational conditions in families. A key goal of the WHO is to focus on primary healthcare to facilitate easy and equitable access to quality health services.5

Recent study

The study by Qureshi et al 6 offers a new approach to increase primary care involvement in diagnosing FH by offering FH genetic testing through general practitioners (GPs) for …

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  • Contributors TB is the lead author on the submitted editorial. GFW is the coauthor.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests TB has received NHMRC Partnership grant funding (GNT1142883) for research into familial hypercholesterolaemia. The WA Health Department provided partner funding for the study. Both Sanofi and Amgen were also partners in the study. GFW was also a CI on the study and has received honoraria for lectures, advisory boards or research grants from Amgen, Arrowhead, AstraZeneca, Esperion, Kowa, Novartis, Regeneron and Sanofi.

  • Patient and public involvement Patients and/or the public were not involved in the design, or conduct, or reporting, or dissemination plans of this research.

  • Provenance and peer review Commissioned; externally peer reviewed.

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