Coding at birth: Nuffield Council on Bioethics publishes briefing note on whole genome sequencing of babies

The Nuffield Council on Bioethics has today published a briefing note that examines the ethical issues raised by whole genome sequencing of babies.

Whole genome sequencing is starting to be used in the NHS in the care of seriously ill babies, and could also become available to parents through commercial companies in future. The technology has the potential to reveal large amounts of genetic information about the baby, raising questions about how this information will be interpreted, shared with parents, stored and used by others.

Whole genome sequencing using a blood or saliva sample is now cheaper and faster than ever before. It usually takes around four weeks and costs around £1,000. However, interpreting the results remains difficult, time-consuming, and expensive.

Why sequence the genome of babies?

Whole genome sequencing can help to diagnose a seriously ill baby with a suspected genetic disease, or to predict how a baby will respond to medicines. It could also be used to predict a baby’s chance of developing disease in childhood or adulthood, to find out about genetic factors that could affect future siblings, and to contribute to research databases to help better understand genetic disease. However, the significance of large amounts of the genetic code is currently unknown.

Whole genome sequencing is not yet widely available in the NHS, but that is likely to change with advances in genomic medicine, for example with the completion later this year of the UK’s 100,000 Genomes Project. Some suggest that the NHS newborn screening programme should be expanded to include more childhood conditions, and that using whole genome sequencing could become a cost effective way to achieve this.

In the commercial sector, whole genome sequencing is already available to adults through several US companies. Some companies offer or are planning to offer newborn screening tests that search for large numbers of genetic conditions.

Ethical issues

Whole genome sequencing of babies raises important questions about what kind of genetic information should be shared with parents, how parents can be supported to make informed choices, and how genomic information should be stored and accessed by others, such as researchers. There are also broader questions about whether increased uptake of whole genome sequencing will change views about genetic variation and disability in society.

The briefing note concludes that:

Whole genome and exome sequencing has the potential to improve the care and treatment of seriously ill babies.
The consequences of sharing any additional findings with parents are not yet known, and how genomic data should be stored, accessed, and used requires further public consideration.
There is ongoing debate about whether genome sequencing could be used to expand NHS newborn screening to include more specific genetic conditions, and how the benefits and harms of screening programmes should be weighed.
Within the medical genetics community, using whole genome sequencing to look opportunistically for a broad range of conditions and traits in babies who are not ill is widely thought to be unacceptable. However, some parents want to receive a broad range of health-related results from whole genome sequencing and might be able to access such results from commercial companies in future.

Professor Dave Archard, Chair of the Nuffield Council on Bioethics says:

“Genome sequencing technology has moved at an incredible pace, and we are starting to see the benefits that it can offer to patients with genetic disease. But we need to think carefully about how we handle the sensitive information that can be revealed. Babies do not get a say in this, making it especially important that they, and others, are not disadvantaged in their future lives by a decision taken at birth.

We need to make sure there are opportunities for public consideration of the challenges.”

Notes to editors

The Nuffield Council on Bioethics is an independent body that has been advising policy makers on ethical issues in bioscience and medicine for more than 25 years. As well as being a key UK partner on international networks of advisory bodies, the Council has an international reputation for advising policy-makers and stimulating debate in bioethics. The Council is funded by the Nuffield Foundation, the Medical Research Council, and Wellcome.

This is the second in a new series of bioethics briefing notes published by the Council. The first focused on ‘The search for a treatment for ageing’. We will publish further bioethics briefing notes this year on topics including the use of artificial intelligence in healthcare, and identification biometrics.

Contact

Sophia Griffiths

Communications Officer

Nuffield Council on Bioethics

020 7681 9622

sgriffiths@nuffieldbioethics.org