Rare single gene disorders: estimating baseline prevalence and outcomes worldwide

Congenital Disorders Expert Group, Hannah Blencowe, Sowmiya Moorthie, Mary Petrou, Hanan Hamamy, Sue Povey, Alan Bittles, Stephen Gibbons, Matthew Darlison (Lead / Corresponding author), Bernadette Modell

Research output: Contribution to journalArticlepeer-review

35 Citations (Scopus)
137 Downloads (Pure)


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.

Original languageEnglish
Pages (from-to)397-406
Number of pages10
JournalJournal of Community Genetics
Issue number4
Early online date14 Aug 2018
Publication statusPublished - Oct 2018


  • Birth prevalence
  • Disability
  • Mortality
  • Rare genetic disorders

ASJC Scopus subject areas

  • Epidemiology
  • Public Health, Environmental and Occupational Health
  • Genetics(clinical)


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