Blencowe Hannah, Moorthie Sowmiya, Petrou Mary, Hamamy Hanan, Povey Sue, Bittles Alan, Gibbons Stephen, Darlison Matthew, Modell Bernadette
Centre for Maternal, Adolescent, Reproductive, and Child Health, London School of Hygiene and Tropical Medicine, London, UK.
PHG Foundation, 2 Worts Causeway, Cambridge, UK.
J Community Genet. 2018 Oct;9(4):397-406. doi: 10.1007/s12687-018-0376-2. Epub 2018 Aug 14.
As child mortality rates overall are decreasing, non-communicable conditions, such as genetic disorders, constitute an increasing proportion of child mortality, morbidity and disability. To date, policy and public health programmes have focused on common genetic disorders. Rare single gene disorders are an important source of morbidity and premature mortality for affected families. When considered collectively, they account for an important public health burden, which is frequently under-recognised. To document the collective frequency and health burden of rare single gene disorders, it is necessary to aggregate them into large manageable groupings and take account of their family implications, effective interventions and service needs. Here, we present an approach to estimate the burden of these conditions up to 5 years of age in settings without empirical data. This approaches uses population-level demographic data, combined with assumptions based on empirical data from settings with data available, to provide population-level estimates which programmes and policy-makers when planning services can use.
随着儿童总体死亡率的下降，诸如遗传疾病等非传染性疾病在儿童死亡率、发病率和残疾率中所占比例日益增加。迄今为止，政策和公共卫生项目主要聚焦于常见的遗传疾病。罕见单基因疾病是受影响家庭发病和过早死亡的重要原因。总体来看，它们构成了一项重要的公共卫生负担，而这一负担常常未得到充分认识。为记录罕见单基因疾病的总体发病率和健康负担，有必要将它们汇总成易于管理的大类别，并考虑其家庭影响、有效干预措施和服务需求。在此，我们提出一种方法，用于在缺乏实证数据的情况下估算5岁以下儿童这些疾病的负担。该方法利用人口层面的人口统计数据，并结合基于有可用数据地区的实证数据所做的假设，以提供可供项目和政策制定者在规划服务时使用的人口层面估算值。
