Rare single gene disorders: estimating baseline prevalence and outcomes worldwide

被引：37
作者：
Blencowe H. [1 ]
Moorthie S. [2 ]
Petrou M. [3 ,5 ]
Hamamy H. [4 ]
Povey S. [5 ]
Bittles A. [6 ,7 ]
Gibbons S. [8 ]
Darlison M. [5 ,9 ]
Modell B. [5 ,9 ]
Bittles A.H.
Christianson A.
Cousens S.
Darlison M. [5 ,9 ]
Gibbons S. [8 ]
Khoshnood B.
Howson C.P.
Lawn J.E.
Mastroiacovo P.
Morris J.K.
Mossey P.A.
Neville A.J.
Rankin J.
Schuler-Faccini L.
Wren C.
Yunis K.A.
机构：
[1] Centre for Maternal, Adolescent, Reproductive, and Child Health, London School of Hygiene and Tropical Medicine, London
[2] PHG Foundation, 2 Worts Causeway, Cambridge
[3] Institute of Women’s Health, University College London, London
[4] Department of Genetic Medicine and Development, Geneva University, Geneva
[5] University College London, London
[6] School of Medical and Health Sciences, Edith Cowan University, Perth
[7] Centre for Comparative Genomics, Murdoch University, Perth
[8] Department of Geography and Environment, London School of Economics, London
[9] WHO Collaborating Centre for Community Genetics, Centre for Health Informatics and Multi-professional Education (CHIME), University College London, London
来源：
Journal of Community Genetics | 2018年 / 9卷 / 4期
关键词：
Birth prevalence; Disability; Mortality; Rare genetic disorders;
D O I：
10.1007/s12687-018-0376-2
中图分类号：
学科分类号：
摘要：
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. © 2018, The Author(s).
引用
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页码：397 / 406
页数：9
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