Identifying Perceptions and Preferences of the General Public Concerning Universal Screening of Children for Familial Hypercholesterolaemia

Faye L. Bowman, Caron M. Molster, Karla J. Lister, Alicia T. Bauskis, Jacquie Garton-Smith, Alistair W. Vickery, Gerald F. Watts, Andrew C. Martin

Research output: Contribution to journalArticlepeer-review

12 Citations (Scopus)


Background/Aims: Familial hypercholesterolaemia (FH) is a common genetic disorder that, if untreated, predisposes individuals to premature coronary heart disease. As most individuals with FH remain undiagnosed, new approaches to detection are needed and should be considered a priority in public health genomics. Universal screening of children for FH has been proposed, and this study explores public perspectives on the acceptability of this approach. Methods: A one-day deliberative public forum was held in Perth, WA, Australia. Thirty randomly selected individuals were recruited, with self-reported sociodemographic characteristics used to obtain discursive representation. Participants were presented with information from a variety of perspectives and asked to discuss the information provided to identify points of consensus and disagreement. The data collected were analysed using thematic analysis. Results: Of the 17 participants at the forum, 16 deemed universal screening of children for FH to be acceptable. Fifteen of these 16 believed this was best performed at the time of an immunisation. Participants proposed a number of conditions that should be met to reduce the likelihood of unintended harm resulting from the screening process. Discussion/Conclusion: The outcomes of the forum suggest that establishing a universal screening programme for FH in childhood is acceptable to the general public in WA.

Original languageEnglish
Pages (from-to)25-35
Number of pages11
JournalPublic Health Genomics
Issue number1-2
Early online date22 Jul 2019
Publication statusPublished - 1 Sept 2019


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