Newborn DNA testing: A breakthrough for families affected by rare conditions

3 mins read

Wednesday 25 June 2025

The government has announced plans for all newborns in England to undergo whole genome sequencing within the next 10 years, as part of a £650 million investment into DNA technology and personalised healthcare.

This marks a significant shift in the way rare and genetic conditions are identified. And it could be life-changing for thousands of families across the UK.

What is whole genome sequencing and what difference will it make?

Currently, the NHS newborn screening programme tests for just nine conditions using a heel-prick blood test.

However, there are over 7,000 known rare genetic conditions, many of which go undetected for years. For families of children with rare, undiagnosed conditions, the diagnostic journey can be long, traumatic, and isolating.

Whole genome sequencing has the potential to screen for hundreds of conditions at birth. This will enable earlier diagnoses, faster access to treatment, and more targeted support.

This is a huge step forward for families living with rare conditions. Too often, families tell us they’ve had to fight for years to get answers. Earlier diagnosis means fewer invasive tests, less uncertainty, and more time to plan for the future.

Health Secretary Wes Streeting described the programme as a key part of a shift in the NHS towards predicting and preventing illness, rather than waiting to treat it.

“Genomics presents us with the opportunity to leapfrog disease, so we’re in front of it rather than reacting to it,” he told the Telegraph.

Contact’s view – programme must come alongside genetic counselling

Contact welcomes this investment. But we also urge policymakers to ensure the rollout is ethical, equitable, and accompanied by clear support pathways for families who may receive unexpected or complex results.

As this rolls out, genetic counselling must play a central role. Receiving unexpected or complex genetic results can be emotionally overwhelming for families, especially when conditions have uncertain outcomes or no current treatments. Genetic counsellors provide critical support. They can help families understand what the results mean, explore options, and make informed decisions about care and next steps. Without this support, families risk being left confused, distressed, or facing life-changing news without the guidance they need.

For this programme to truly benefit families, they need fully-funded genetic counselling that’s widely available and integrated from the very start. Genome sequencing can offer hope, but it also comes with emotional and practical challenges. Families must not be left to navigate this alone.

Next steps

We’ll be watching developments closely to ensure that the development and delivery of this plan fully involves families of disabled and medically-complex children.