We wanted to share an important update with our community about the Generation Study and what the completion of this research programme means for the future of newborn screening.
The Generation Study is a research programme run by Genomics England in partnership with the NHS that tests your baby for more than 200 conditions just after birth. The study aims to find out if early genetic testing can help families identify rare conditions and allow for earlier diagnoses and better treatments for patients in the future.
The Study has been an important opportunity to explore how genomic testing could help identify serious health conditions in newborn babies. The study has focused on conditions that are not currently included on the UK newborn screening programme, including conditions where earlier identification could allow children and families to access specialist support, monitoring and treatment sooner.
For many rare conditions, the timing of diagnosis can be critical.
Where effective treatments are available, starting those treatments as early as possible can improve outcomes and, in some cases, can be life-saving.
Generation Study recruitment nearing completion
The Generation Study is now approaching the end of its recruitment phase. Recruitment is expected to complete in early 2027, with the study aiming to reach its planned target of 100,000 newborn participants. Final results are expected to be returned to participating families in spring 2027.
The study has made significant progress, with more than 75,000 parents recruited and over 56,000 results returned. More than 180 participants have received a result where a condition is suspected and have been referred for specialist NHS care.
As recruitment comes to an end, some expectant parents who had hoped to take part will no longer be able to join the study. We understand that this may feel disappointing for families who were interested in participating. The end of recruitment is a planned stage of this research programme.
Families are not being individually excluded.
Rather, the study is moving into its next phase so that researchers can complete analysis and evaluate the evidence gathered.
What this means for newborn screening
The completion of recruitment marks a significant point in the ongoing work to understand how genomics could support newborn screening in the future.
While the Generation Study has generated important evidence, it also highlights the reality that,
without changes to newborn screening, some babies born with serious rare conditions may continue to go undiagnosed at birth.
For families affected by conditions where there is a time-sensitive treatment opportunity, this reinforces why progress is so important. At the MPS Society, we believe that conditions supported by our community should be appropriately considered for inclusion within newborn screening where there is clear evidence that earlier diagnosis can improve outcomes for children and families.
The end of the Generation Study is not the end of this work. It provides an opportunity to continue strengthening the case for expansion of the UK newborn screening panel.
Continuing to advocate for families
Decisions about whether conditions are added to the UK newborn screening programme are made by national policy bodies, including the UK National Screening Committee and NHS England. The evidence generated through research such as the Generation Study will help inform these future discussions.
The MPS Society will continue to work alongside families, clinicians, researchers and other patient organisations to advocate for newborn screening that reflects the needs of children living with rare conditions - particularly where early diagnosis can open the door to timely treatment, better support and improved outcomes.
As this conversation continues, we will keep our community updated and ensure that the voices and experiences of families affected by MPS and related conditions remain at the heart of our work.
