The role of genomics in improving child health

By Philippa Brice

31 October 2013


The Department of Health has released the annual report from the Chief Medical Officer (CMO) of England, Professor Dame Sally Davies, which this year examines the health of children.

The CMO outlines the challenges facing children and young people, the impacts these have on health in childhood and beyond, and makes policy recommendations for health and social care, some of which are also relevant for justice, education and housing, with a particular focus on early intervention and prevention. The importance of the prenatal period and young childhood in influencing long-term health is emphasised, and the CMO calls on the National Institute for Health Research to seek to improve health outcomes for long-term conditions in childhood, working with children and young people to facilitate their increased participation in clinical trials. 

Noting that addressing her concerns will require considerable effort, the CMO observes that ‘the health and wellbeing of children and young people is a complicated mixture of genetics, sociology and psychology’. The proposed interventions primarily address social issues. Whilst the health of children is of paramount importance, and social interventions are the greatest opportunity for improving health outcomes, genetics and genomics (and indeed public health genomics) can also play a vital role. 

One important issue is that of inherited (and heritable) disorders, which collectively account for a high proportion of paediatric practice and indeed ill-health and disability among children. For example, the World Health Organization (WHO) notes that up to 40% of paediatric hospital practice may be from children with inherited monogenic diseases, whilst a more recent study found that more than 50% of paediatric hospital admissions were children with either genetic disorders or underlying conditions with a genetic basis. A significant proportion of neurodevelopmental conditions, highlighted for particular attention in the CMO’s report, have strong genetic components. 

Efforts to prevent such conditions, or to detect them as early as possible in order to give children the best possible start in life and optimise health outcomes, will continue to be needed; these measures vary from maintaining awareness among primary care practitioners, midwives and health visitors and ongoing improvement of prenatal and newborn screening programmes through to ensuring that high quality genetic services are available for patients in all parts of the country. 

The growing capacity to use whole genome sequencing as a practical clinical tool for diagnosis and management across different specialties should not be underestimated. It is likely that diagnosis of genetic causes of varied childhood disorders ranging from learning disability and developmental delay through to cardiac and muscular problems will increase. The management of childhood cancers is also increasingly informed by genomic analysis, as are efforts to monitor outbreaks of serious infectious disease or vaccination programmes in child populations. 

Overall, genomics plays a crucial role in determining the health of children; understanding the interplay between environmental, genetic and epigenetic factors in disease susceptibility is therefore essential.  

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