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

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 the survey. There was strong support for newborn screening for familial hypercholesterolaemia including via genetic testing. Perceived benefits of genetic testing included early diagnosis, prevention of heart disease, reverse cascade screening, robust screening methodology and family planning. Concerns included access to insurance, technical understanding of genetics, parental anxiety, burden to the healthcare system, genetic discrimination, non-paternity, impact on the psychological health of children, child-parent bonding, and delay from diagnosis to initiation of pharmacotherapy during childhood. Main perceived barriers were cost and burden to the healthcare system, lack of a formal consent process and follow-up pathways. A multidisciplinary approach with appropriate funding, education, a formalized consent process and follow-up pathways with local pilot testing were perceived as important steps to overcome these barriers. Conclusion There was widespread support for newborn screening for familial hypercholesterolaemia in a diverse group of healthcare professionals. Further work is required to address concerns and barriers prior to introduction of newborn screening for familial hypercholesterolaemia.