Journal of Medical Screening | 2021
The UK National Screening Committee’s position on child–parent screening for familial hypercholesterolaemia
Abstract
Familial hypercholesterolaemia (FH) is an inherited condition, affecting about 1 in 250 individuals, that results in high cholesterol and a high risk of fatal and non-fatal heart attacks at a young age. Only an estimated 7% of the 260,000 individuals with FH in the UK have been identified. Child–parent screening (CPS) is a method of identifying children and their parents with FH and supports cascade testing to identify other relatives with FH (child–parent cascade screening). Affected individuals have about a 100-fold excess risk of ischaemic heart disease between ages 20 and 39, which is largely reversed by starting a low saturated fat diet and preventive medication in childhood. In February 2020, the UK National Screening Committee (NSC) rejected the proposal for screening children for FH. In July 2020, National Health Service (NHS) England and NHS Improvement took a contrary view and chose to introduce CPS on a pilot basis as part of their Long-Term Plan to increase FH identification for the prevention of premature ischaemic heart disease. The NSC responded by setting up an Ethics Task Group. The ethical issues had already been considered by two National Research Ethics Committees prior to the Medical Research Council (MRC)-funded Child– parent Screening study in 2012. Neither committee found any ethical concern. It is not standard practice to reassess ethical issues unless new evidence arises that would alter the conclusions from previous ethical review. In the MRCfunded study, 10,095 children were screened at one to two years of age during routine immunisation visits at 92 English general practices. The method was found to be feasible, acceptable, safe and effective, with no new ethical issues raised. It is also cost effective. CPS has been independently assessed and introduced on a pilot basis in Western Australia and found to be similarly acceptable, feasible and cost effective. In spite of this, specific questions were asked by the NSC through its newly established Ethics Task Group on 26 January 2021 at a joint meeting of the NSC and NHS England and Improvement. The questions and the answers given are shown in Table 1. A key question that was not asked, but should have been, is whether it would be ethical not to introduce CPS given current knowledge and the large number of premature deaths from ischaemic heart disease that would be prevented. This omission is itself concerning. The NSC seems to take the view that the child does not benefit from screening; only the parent benefits and the child is simply a conduit to the parent. However, both child and parent benefit. The child begins a healthy low saturated fat diet from age 1 year. Randomized trial evidence has shown that dietary advice started at eightmonths of age results in a healthier diet at age 20 years and lower low-density lipoprotein cholesterol (LDL-C) levels than children randomized to no dietary advice. The trial results support the expected – that it is easier to introduce good dietary habits early, when tastes are developing, than break bad ones later. But the study goes further and shows that the benefits are sustained. Since LDL-C is the underlying cause of ischaemic heart disease, a lower LDL-C level reduces risk. A healthy diet that benefits a child also benefits the parent, and the wider family, because eating tends to be a shared activity. Early identification of the child therefore benefits the whole family, not just the child, and there are no ethical issues raised by family-based prevention.