Genetic testing in childhood

Genetic testing of children can play an important role in their care and treatment. For example, tests can be used as part of the diagnostic process when children present with health or developmental problems, or to determine whether surveillance strategies might be beneficial. They can offer immediate clinical benefits and should be used in the same way as any other investigation to determine the best clinical care.

Genetic tests can also potentially generate information about children’s health in the medium- and long-term future. This can relate to adult-onset disease and/or be relevant to reproduction and future generations, rather than current or imminent health problems. Decisions about the optimal time to carry out a genetic test can raise difficult issues for health professionals, for parents and for children and young people.

The report discusses the often complex ethical issues around genetic testing in childhood. It makes recommendations, explains the legal and ethical rationale for those recommendations and sets out the clinical contexts in which testing may be considered. It includes a number of illustrative case studies to help guide clinical practice.

Genetic testing in childhood is a revision of a report first published by the Clinical Genetics Society in 1994 and subsequently revised in 2010. Produced by the Joint Committee on Genomics in Medicine (comprising the Royal College of Physicians, Royal College of Pathologists and British Society for Genetic Medicine (including representatives from the Royal College of Obstetrics and Gynaecology and the Royal College of Paediatrics and Child Health)), it builds on related guidance Consent and confidentiality in genomic medicine, published in 2019. It has been produced in response to a reassessment of genetic testing in the light of developments in both molecular technologies and in society and the law, and aims to support best practice.