As part of the Joint Committee on Genomics in Medicine (JCGM), the College has collaborated with other organisations, including the Royal College of Physicians and the British Society for Genetic Medicine, to publish two guidance documents on prenatal and childhood genetic testing – Ethical issues in prenatal genetic testing and Genetic testing in childhood.

The use of genetic and genomic tests to support reproductive choices during pregnancy and to guide potential treatment and management is increasingly a part of routine prenatal care. Over the past 20 years, improvements in technologies and speed and affordability mean that prenatal genetic testing is now offered and requested more frequently. However, there must be consideration of the ethical issues that can arise from this testing. 

Ethical issues in prenatal genetic diagnosis is the first report on this subject by the JCGM. It focuses on key steps of the prenatal testing pathway and aims to facilitate the decision-making processes for both professionals and patients with examples of patients experiencing different ethical issues around testing during pregnancy. It builds on related guidance Consent and confidentiality in genomic medicine published in 2019 by the JCGM.

Genetic testing of children can also play an important role in their care and treatment. They can offer immediate clinical benefits and should be used in the same way as any other investigation to determine the best clinical care. However, 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.

Genetic testing in childhood is a revision of a report first published by the Clinical Genetics Society in 1994 and subsequently revised in 2010. 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.