Whole genome sequencing of babies

Law, guidance, and advice

The Human Tissue Act 2004 makes it unlawful in England, Wales, Scotland, and Northern Ireland to store and use a child’s tissue for DNA analysis without the consent of a person who has parental responsibility for them.

Current UK and international professional guidance and advice broadly agrees that it is acceptable to use whole genome or exome sequencing in the clinical care of seriously ill babies. However, the guidance and advice suggests that using this technology to look opportunistically for a wide range of genetic conditions and traits in babies, either through a newborn screening programme or commercial services, is not justifiable or acceptable (see Box 2).

Professional guidance and advice

On using whole genome sequencing in the care of seriously ill babies:

• British Society for Genetic Medicine: where testing aids immediate medical management, it is unlikely to be contentious.
• European Society of Human Genetics: it is preferable to use a targeted approach first in order to avoid unsolicited or uninterpretable findings.
• American College of Medical Genetics and Genomics: parents should be given the option of finding out about additional, specific genetic disorders.

On direct-to-consumer genetic testing of children:

• Nuffield Council on Bioethics (UK): companies should not carry out on children DNA tests that do not meet the criteria of the UK National Screening Committee.
• Human Genetics Commission (UK): direct-to-consumer genetic tests in respect of children should normally be deferred until the attainment of capacity.
• European Society of Human Genetics: direct-to-consumer genetic tests should not be offered to individuals who have not reached the age of legal majority.

On using whole genome sequencing in population newborn screening:

• Groups from Europe, the US, and the UK broadly agree that current knowledge does not justify the use of untargeted whole genome sequencing in population newborn screening. Newborn screening should be limited to gene variants conferring a high risk of specific conditions that can be effectively treated or prevented in childhood.*

*US President’s Council on Bioethics (2008) The changing moral focus on newborn screening; Howard HC et al. (2015) Whole-genome sequencing in newborn screening? A statement on the continued importance of targeted approaches in newborn screening programmes Eur J Hum Genet 23: 1593-600; Friedman JM et al. (2017) Genomic newborn screening: public health policy considerations and recommendations BMC Medical Genomics 10: 9.