March 3, 2024

Nuffield Council issues brief note on whole genome sequencing of babies

Care could improve, but there are many sticky ethical issues

The Nuffield Council on Bioethics has published a briefing note on whole genome sequencing of babies.

Whole genome sequencing is starting to be used in the UK’s National Health Service in the care of seriously ill babies, and will also become available through commercial companies. The technology can reveal large amounts of genetic information. But this raises questions about how this information will be interpreted, shared with parents, stored and used by others. While costs are falling, interpreting results remains difficult, time-consuming, and expensive.

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.

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. Researchers generally agree that direct-to-consumer genetic tests for children should normally be deferred until they are adults.

There are also broader questions about whether increased uptake of whole genome sequencing will change views about genetic variation and disability in society.

The Nuffield Council’s 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.”

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