Genetic Alliance UK responds to the Government’s newborn sequencing announcement

The Government has announced a significant £650 million investment by 2030 in genomic medicine in England, including the ambition of mapping the DNA of every newborn baby in England using Whole Genome Sequencing. This initiative, expected to be part of the Government’s 10-Year Health Plan for the NHS, aims to assess babies’ risk of hundreds of conditions, aligning with their focus on predictive and preventative healthcare.

Genetic Alliance UK welcomes this move and we are pleased to see the Government taking the steps outlined in our joint manifesto for rare diseases to improve diagnosis of genetic, rare and undiagnosed conditions. This proposed Whole Genome Sequencing (WGS) programme holds incredible promise for speeding up the diagnosis of genetic, rare, and undiagnosed conditions. Earlier diagnoses can pave the way for earlier interventions and much more personalised care, ultimately easing pressure on NHS services in the future.

However, we know that a faster diagnosis is just one part of the journey. For families to feel truly informed and supported, clear and transparent communication about what WGS involves, how risks will be managed, how data will be used, and its potential impact is absolutely essential. This will require a well-equipped NHS workforce, and the expertise of genetic counsellors will be crucial in interpreting results and providing vital support.

This commitment marks a pivotal moment,  and while this significant investment is undoubtedly a positive step, it’s worth noting some key details that remain unaddressed. Beyond the 2030 target, there’s no concrete implementation timeline, nor a clear list of conditions or decision making process for reporting results to families. The announcement also doesn’t clarify how newborn genome sequencing relates to the current heelprick screening, which only covers nine rare conditions using metabolic, not genomic, testing. Finally, there’s no mention of how the Generation Study results will inform this ambitious future.

While there’s certainly much work to be done before this ambition becomes reality, we’re optimistic about the positive impact WGS will have.  Genetic Alliance UK is ready to work closely with the government and the NHS to make this ambitious programme a success. It will be necessary for our community to inform the development and implementation of this programme. We’re here to ensure the implementation of this programme puts the genetic, rare, and undiagnosed community at its heart.