Whole-genome sequencing (WGS) reveals the genome of an individual including both rare mutations and genes that have a role in the expression of common medical conditions. The rapid development of WGS has substantially reduced both the cost and the time required to sequence an entire human genome. The availability of WGS is likely to change the current practice of both paediatric medicine and research by facilitating more accurate, sophisticated and cost-effective genetic testing.1 WGS also reveals findings with clinical significance that are not within the scope of the original paediatric research objectives. This raises the ethical question of whether to return such WGS findings.

Our purpose in this statement is to examine how to respect the ‘best interests of the child’ – ‘a primary consideration’2 – as well as the right of the child to voice his or her opinion3 in the particular context of paediatric research using WGS. In the text below, we will use the term WGS results to include both research results per se (ie within the objectives of the project) and ‘incidental’ findings that are revealed via WGS. Our background reflections cover both existing and emerging guidance, approaches for the testing of adults, and relevant laws, before we propose our recommendations.

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