Enhancing the detection of familial hypercholesterolaemia in general practice: A model for supporting genetic cascade testing in the community

Pang J, Barnett W, Purdie J, Della-Vedova JA, Woodward A, Bell DA, Hooper AJ, Chan DC, Martin AC, Nowak KJ, Garton-Smith J, Watts GF.
Eur J Hum Genet. 2026 Feb;34(2):252-259.
doi: 10.1038/s41431-025-01979-7. Epub 2025 Nov 17.
PMID: 41249832

Jing Pang

Medical School, University of Western Australia, Western Australia, Perth, Australia.

Lipid Disorders Clinic, Cardiometabolic Services, Department of Cardiology, Royal Perth Hospital, Western Australia, Perth, Australia.

Familial Hypercholesterolaemia Australia, Perth, Australia.

Lipid Disorders Clinic, Cardiometabolic Services, Department of Cardiology, Royal Perth Hospital, Western Australia, Perth, Australia.

Lipid Disorders Clinic, Cardiometabolic Services, Department of Cardiology, Royal Perth Hospital, Western Australia, Perth, Australia.

Medical School, University of Western Australia, Western Australia, Perth, Australia.

Medical School, University of Western Australia, Western Australia, Perth, Australia.

Medical School, University of Western Australia, Western Australia, Perth, Australia.

Medical School, University of Western Australia, Western Australia, Perth, Australia.

Office of Population Health Genomics, Public and Aboriginal Health Division, Department of Health, Western Australia, Perth, Australia.

Health Networks, Clinical Excellence Division, Department of Health, Western Australia, Perth, Australia.

Professor of Cardio-metabolic Medicine at the Royal Perth Hospital and the University of Western Australia