Peer-reviewed article
Ethnic access to child–parent screening for familial hypercholesterolaemia
David S Wald, Jonathan Paul Bestwick ·
Summary
Written by AI, not yet AICS's view · claude-haiku-4-5-20251001This study examined whether child-parent screening for familial hypercholesterolaemia (an inherited condition causing high cholesterol and early heart disease) reaches children equitably across ethnic groups in the UK. The researchers compared the ethnic composition of 10,095 children screened during routine immunisations between 2012 and 2015 with national census data for the same age group. The ethnic breakdown of screened children matched the census data closely, suggesting that the screening programme successfully reached all ethnic groups without preferential uptake by any single group.
Key points
- Child-parent screening for familial hypercholesterolaemia was offered to 10,095 children at UK general practices during routine immunisations, with 84% of parents accepting
- The ethnic composition of screened children (white, mixed, Asian, black and other) matched Office for National Statistics census data for the same age group
- Screening identified one new FH positive individual for every 125 children screened
- 94% of parents said they would have a second child screened if the method were offered
- The method meets NHS duties to reduce health inequalities and reach people in diverse ethnic groups
Limitations
This study only examines ethnic representation in uptake of screening; it does not investigate whether screening access, follow-up care, or treatment outcomes differ by ethnicity. The study cannot tell us whether ethnic disparities exist in the clinical care or outcomes for families who test positive for familial hypercholesterolaemia.
Abstract
Child–parent screening for familial hypercholesterolemia (FH) is a population method for identifying children and their parents who are at high risk of premature ischaemic heart disease due to inherited high cholesterol.1 The method links screening with childhood immunisation allowing universal coverage of the population, and identifies FH securely based on cholesterol measurement supported by FH mutation testing.2 The early identification of FH allows the introduction of preventive treatment before the onset of ischaemic heart disease, and ensures screening happens at the stage in life when a cholesterol measurement is most discriminatory for FH (1–2 years of age). The method has been shown to be feasible and acceptable in a national demonstration project;3 over 3 years, 10,095 children (median age 13 months) were screened at 92 UK general practices during routine immunisations – 84% of parents accepted the offer of screening and 94% said they would have a second child screened by the method if it were offered.34 Child–parent screening identified one new FH positive individual for every 125 children screened. The method leads naturally to cascade testing in which relatives are tested – half of all first degree relatives being affected.5 Integrated child–parent cascade screening is highly effective and cost-effective.6,7 It is not known whether access to screening varies across ethnic groups. We used data from the Child–parent Screening Study to investigate this. The ethnic mix of 10,095 children who attended for screening between 2012 and 2015 was compared with the ethnic mix recorded in the Office for National Statistics (ONS) census data for the same age group at a similar point in time, based on a survey of 3,496,750 children.8 For both surveys ethnicity was self-defined using specified categories (white, mixed, Asian, black and other). Figure 1(a) (10,095 children screened) and (b) (3,496,750 children in census) shows similar ethnic group proportions indicating that child–parent screening is not preferentially taken up by any one particular ethnic group. Proportion of children by ethnic group screened for familial hypercholesterolemia in the Child–parent Screening Study (a) compared with age and time-matched census data for England and Wales (b). Numbers in pie-chart are percentages of total population (to two significant figures). The Health and Social Care Act 2012 includes specific duties for providers and commissioners of NHS screening programmes with regard to reducing health inequalities between the people of England.9 Under the act, screening programmes should pay particular attention to reaching people in diverse ethnic groups; a requirement that has also been highlighted in other countries.10 The data from the Child–parent Screening Study indicate that this requirement is met in screening for FH in children at the time of immunisation. The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article. The author(s) disclosed receipt of the following financial support for the research, authorship, and/or publication of this article: the child-parent screening study was funded by Medical Research Council (UK).