Genetic Alliance UK works in collaboration with and on behalf of its members across the UK to support high level change to improve the lives of people living with genetic, rare and undiagnosed conditions.
2025
Time to Decide: Learning from international approaches to newborn screening decision-making
We’re pleased to share Genetic Alliance UK’s new policy report, Time to Decide: Learning from international approaches to newborn screening decision-making.
Expanding population screening for genetic and rare conditions is a key part of our five-year strategy. While many countries now screen for over 20 conditions, only nine conditions are included in the UK’s NHS Newborn Blood Spot Screening Programme. There is growing consensus from across the rare community and Genetic Alliance UK’s broader network of stakeholders that this needs to change.
The report explores how the UK National Screening Committee (UK NSC) can accelerate its approach to decision-making for expanding newborn screening, drawing on research findings from 14 countries to identify practical, evidence-informed steps for improving the way decisions are made in the UK. It also considers the role of genomic newborn screening.
The report calls on governments and health system leaders to:
- adopt a pragmatic approach to evaluating evidence for genetic and rare conditions
- strengthen the involvement of patient organisations in decision-making
- ensure greater transparency in decision-making
- introduce more agile review processes to prevent unnecessary delays and promote readiness for new screening technologies
- commit to a long-term plan for broader health systems innovation, including readiness for new therapies.
We hope the report is a useful contribution to current discussions. We will be building on the report’s findings and messaging through a public affairs campaign to align with events related to newborn screening across the year. For any questions, please feel welcome to email [email protected]
Time to Decide: Learning from international approaches to newborn screening decision-making
More than you can imagine: opportunities for improving the lives of people with rare conditions
Genetic Alliance UK’s Rare Disease Day policy report ‘More than you can imagine: opportunities for improving the lives of people with rare conditions’ reflects on the impact of the UK Rare Disease Framework and highlights the significant unmet need that continues to exist in the rare condition community.
The report recognises that the existing Framework has laid strong foundations and since its publication, new opportunities have emerged.
There is strong support for renewing the Framework among the rare conditions community. The report calls on the governments of the UK to renew their commitment to rare conditions and ensure that the successor to the existing UK Framework is supported by:
- Ring-fenced funding for each nation
- Well-resourced delivery teams for effective implementation
- Ongoing involvement of the rare conditions community
- Enhanced collaboration across the four nations, including joint initiatives
- Development of clear metrics to monitor progress and evaluate outcomes
- Regular reporting of progress to facilitate comparison and collaboration
More than you can imagine report
More than you can imagine: an anthology of rare experiences
To mark Rare Disease Day 2025, Genetic Alliance UK produced ‘More than you can imagine: an anthology of rare experiences’. The anthology is a powerful collection of creative works that bring to life the experiences of individuals within the genetic, rare, and undiagnosed communities through poetry, personal stories, photography, and artwork.
Featuring over 60 submissions, the anthology has themes of resilience, isolation, mental health, and the experience of ‘fighting’ for care echo throughout. But so too does the strength found in support and community.
While each story is deeply personal, it is impossible to ignore the shared challenges. Delayed diagnoses, a lack of awareness among healthcare professionals, fragmented care, and barriers to accessing treatment and support.
More than you can imagine anthology
We’re pleased to share Genetic Alliance UK’s new policy report, Time to Decide: Learning from international approaches to newborn screening decision-making.
Expanding population screening for genetic and rare conditions is a key part of our five-year strategy. While many countries now screen for over 20 conditions, only nine conditions are included in the UK’s NHS Newborn Blood Spot Screening Programme. There is growing consensus from across the rare community and Genetic Alliance UK’s broader network of stakeholders that this needs to change.
The report explores how the UK National Screening Committee (UK NSC) can accelerate its approach to decision-making for expanding newborn screening, drawing on research findings from 14 countries to identify practical, evidence-informed steps for improving the way decisions are made in the UK. It also considers the role of genomic newborn screening.
The report calls on governments and health system leaders to:
- adopt a pragmatic approach to evaluating evidence for genetic and rare conditions
- strengthen the involvement of patient organisations in decision-making
- ensure greater transparency in decision-making
- introduce more agile review processes to prevent unnecessary delays and promote readiness for new screening technologies
- commit to a long-term plan for broader health systems innovation, including readiness for new therapies.
We hope the report is a useful contribution to current discussions. We will be building on the report’s findings and messaging through a public affairs campaign to align with events related to newborn screening across the year. For any questions, please feel welcome to email [email protected]