Document Type

Journal Article

Publication Title

Journal of Community Genetics


Springer Verlag

Place of Publication



School of Medical and Health Sciences




Blencowe, H., Moorthie, S., Petrou, M., Hamamy, H., Povey, S., Bittles, A., ... & Modell, B. (2018). Rare single gene disorders: estimating baseline prevalence and outcomes worldwide. Journal of community genetics, 9(4), 397-406. Available here.


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.



Creative Commons License

Creative Commons Attribution 4.0 License
This work is licensed under a Creative Commons Attribution 4.0 License.