Universal newborn screening for familial hypercholesterolaemia-insights from healthcare professionals in Queensland, Australia.

ABSTRACT: Background Familial hypercholesterolaemia is a common disorder leading to premature atherosclerotic cardiovascular disease. Despite available treatment options and guideline recommendations for early screening and intervention, fewer than 10% (1 in 10) of individuals with familial hypercholesterolaemia have been identified. Objective To assess if healthcare providers in Queensland, Australia, support introduction of newborn screening for familial hypercholesterolaemia with a focus on benefits, concerns, barriers, and solutions. Methods A survey consisting of 16 items was conducted. Healthcare providers in Endocrinology, Cardiology, Chemical Pathology, Genetic Pathology, Clinical Genetics, General Practice and Genetic Counselling were invited to participate. Results 69 individuals completed

SUBMITTER: Bachmeier C 

PROVIDER: S-EPMC12627328 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature