Page Christopher, Zheng Huiru, Wang Haiying, Rai Taranjit Singh, O'Kane Maurice, Hart Pádraig, McKee Shane, Watterson Steven
Personalised Medicine Centre, School of Biomedical Science, Ulster University, C-TRIC Building, Altnagelvin Area Hospital, Derry, Northern Ireland, United Kingdom.
School of Computing, Ulster University, Belfast, Northern Ireland, United Kingdom.
PLOS Glob Public Health. 2023 Apr 25;3(4):e0001795. doi: 10.1371/journal.pgph.0001795. eCollection 2023.
We sought to determine the most efficacious and cost-effective strategy to follow when developing a national screening programme by comparing and contrasting the national screening programmes of Norway, the Netherlands and the UK. Comparing the detection rates and screening profiles between the Netherlands, Norway, the UK and constituent nations (England, Northern Ireland, Scotland and Wales) it is clear that maximising the number of relatives screened per index case leads to identification of the greatest proportion of an FH population. The UK has stated targets to detect 25% of the population of England with FH across the 5 years to 2024 with the NHS Long Term Plan. However, this is grossly unrealistic and, based on pre-pandemic rates, will only be reached in the year 2096. We also modelled the efficacy and cost-effectiveness of two screening strategies: 1) Universal screening of 1-2-year-olds, 2) electronic healthcare record screening, in both cases coupled to reverse cascade screening. We found that index case detection from electronic healthcare records was 56% more efficacious than universal screening and, depending on the cascade screening rate of success, 36%-43% more cost-effective per FH case detected. The UK is currently trialling universal screening of 1-2-year-olds to contribute to national FH detection targets. Our modelling suggests that this is not the most efficacious or cost-effective strategy to follow. For countries looking to develop national FH programmes, screening of electronic healthcare records, coupled to successful cascade screening to blood relatives is likely to be a preferable strategy to follow.
我们试图通过比较挪威、荷兰和英国的国家筛查计划,来确定制定国家筛查计划时最有效且最具成本效益的策略。比较荷兰、挪威、英国及其组成国家(英格兰、北爱尔兰、苏格兰和威尔士)之间的检测率和筛查情况后可以明显看出,每个索引病例筛查的亲属数量最大化会使FH人群中最大比例的人被识别出来。英国在《国民保健服务长期计划》中设定了到2024年的5年时间内检测出英格兰25%的FH人群的目标。然而,这极不现实,根据疫情前的比率,要到2096年才能实现。我们还对两种筛查策略的有效性和成本效益进行了建模:1)对1至2岁儿童进行普遍筛查,2)电子健康记录筛查,在这两种情况下都结合反向级联筛查。我们发现,通过电子健康记录检测索引病例比普遍筛查有效56%,并且根据级联筛查的成功率,每检测出一例FH病例,成本效益要高出36%至43%。英国目前正在试验对1至2岁儿童进行普遍筛查,以实现国家FH检测目标。我们的建模表明,这不是最有效或最具成本效益的策略。对于希望制定国家FH计划的国家来说,筛查电子健康记录并成功地对血亲进行级联筛查可能是更可取的策略。