We will be delivering the Generation Study to sequence the genomes of 100,000 newborns to look for a specific set of rare genetic conditions that affect babies and can be acted on.
We have already begun a journey with parents, the public, people with lived experience of rare disease, researchers, and health professionals to explore the many practical, ethical, and societal questions our study raises and work out how best to deliver it.
Aims of the Generation Study
Identify rare conditions in babies
The Generation Study will evaluate the utility and feasibility of screening newborns for a larger number of childhood-onset rare genetic conditions in the NHS, using whole genome sequencing.
We'll aim to understand how the genomic and health data could be used to improve knowledge and treatments.
Create lifetime resource
We'll explore the potential risks and benefits of storing an individual’s genome over their lifetime.
Expanding newborn screening
Our increasing ability to harness the power and benefits of sequencing and analysing genomes for our healthcare could provide an opportunity to expand newborn screening from the present nine conditions offered in the UK to many more rare diseases.
Information from babies’ genomes could help us do more research on how our genes affect our health, and provide opportunities and potential benefits to individuals from having their genomic data available to inform future healthcare decisions.
Early diagnosis and care for childhood-onset rare genetic conditions
Building on the principles of the NHS newborn screening programme, the Generation Study will sequence and analyse 100,000 babies’ genomes for a set of actionable genetic conditions that may affect their health in early years. This could contribute to timely diagnoses, access to care and treatment pathways, and support better outcomes and quality of life for babies and their families.
We are working with parents, the multi-professional NHS workforce, policymakers, and members of the public to deliver the Generation Study.
Enabling research and new treatments for NHS patients
With parents’ consent, babies’ genomes will be de-identified and added, alongside their health data, to our National Genomic Research Library. This will enable vetted academic, clinical, and biopharma healthcare researchers to improve understanding of health and disease, develop new diagnostics and treatments, and understand how current therapies can be improved or repurposed.
Building on our existing governance practices for data protection and access, we will collaborate with experts, families living with rare genetic conditions, and the wider public to ensure this data is accessed and used appropriately, now and in the future.
Exploring the potential of a lifetime genomic record
Storing babies’ genomes securely, regardless of their newborn screening outcome, could allow them to be reanalysed as needed, potentially enabling access to new developments in genomics throughout their lifetime.
We will explore the benefits as well as the ethical and practical implications of storing participants’ genomes; how and when it’s appropriate for participants’ data to be reanalysed in accordance with their choice; and the impact on them and their future clinical care.
Building on our existing knowledge and expertise
Through working in partnership with NHS England to deliver the 100,000 Genomes Project and the NHS Genomic Medicine Service, we have established infrastructure to support the use of whole genome sequencing, and the diagnostic and treatment pathways for children and adults with symptoms, and have developed the sequencing and analytical tools to ensure a safe and effective service. We want the Generation Study to build on these strong foundations.
Jessica's GLUT1 deficiency syndrome was only identified after years of diagnostic exploration. The Newborn Screening Programme will help children like Jessica to start living healthier lives sooner.
In October 2023, we shared our initial list of the genes and conditions that will be included when the Generation Study begins.