Generation Study

The Generation Study is evaluating the potential of identifying actionable childhood-onset rare genetic conditions following birth, by sequencing and analysing 100,000 babies’ genomes.

This could contribute to improved outcomes and quality of life for babies and families.

Aims of the Generation Study

The Generation Study has three main aims:

1. Identify rare conditions in babies earlier. The Generation Study will evaluate the utility and feasibility of using whole genome sequencing (opens in a new tab) to screen newborns for a larger number of childhood-onset rare genetic conditions, with the aim of improving their health outcomes and quality of life through more timely diagnosis and access to care and treatment.
2. Enable research. With parents’ consent, babies’ genomes and health data will be accessed for the purpose of wider research around genes and health, to facilitate investigation into new testing and treatments for genetic conditions. Approved researchers can access this data within a secure database called the National Genomic Research Library (opens in a new tab), though the participants’ identities are not disclosed.
3. Explore the risks and benefits of storing an individual’s genome over their lifetime. Genomics England and study researchers will continue to engage with the public, parents, healthcare professionals, rare disease communities and policy-makers, looking at the possible benefits and risks, as well as ethical and practical implications, of storing an individual’s genome over their lifetime.

You can find the current list of conditions included in the Generation Study here (opens in a new tab).

Who are we working with?

This is a national study being led by Genomics England (opens in a new tab). You can find out more about the Generation Study on their website.

Which hospital Trusts are involved?

The Generation Study is running in a select number of NHS hospitals in England.

The Generation Study is research and does not replace standard NHS care. People interested in taking part in the study due to concern about a history of a genetic condition should speak to their midwife or doctor. You can find out more about the study at www.generationstudy.co.uk (opens in a new tab)

Meet the East GMSA team

• Jo Hargrave, East GMSA Lead Midwife, Joanne.Hargrave@nnuh.nhs.uk
• Emily Li, East GMSA Generation Study Operational Manager, emily.li1@nhs.net