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Genomics England Generation Study

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Lay summary

Every year hundreds of babies are born in the UK with rare genetic conditions. Early intervention can enhance the health and quality of life of many of these babies. But these conditions can be hard to diagnose, leading to delays in care.

The Generation Study is a groundbreaking research study which will sequence the genomes of 100,000 newborn babies. We are running our study in partnership with the NHS to understand whether we can improve our ability to diagnose and treat genetic conditions.

There are thee aims:
1. The Generation Study will evaluate the utility and feasibility of using genome sequencing to screen newborn babies for a large number of rare conditions that can then be treated in the NHS to try to improve their health outcomes and quality of life through more timely diagnoses, access to care and treatment.
2. With parent’s consent, babies’ genomes and health data will be accessed for wider research about genes and health, so we can investigate new testing and treatment for genetic conditions in the future. 
3. Engage with the public, parents, healthcare professionals, rare disease communities and policymakers to look at the possible benefits, risks, ethical and practical implications of storing an individual’s genome over their lifetime.

The study involves babies born in a number of different hospitals across England. The results will add to evidence that will inform future decisions on using whole genome sequencing to support newborn screening. This includes using it to accelerate diagnosis and access to treatments for rare conditions.

There is more information available on our website for parents who are invited to participate in our study. Translated materials are available on the site.  https://www.generationstudy.co.uk.

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