The Generation Study is a ground-breaking research study sequencing the genomes of 100,000 newborn babies to help understand whether we can improve the diagnosis and treatment of rare genetic conditions. The study is being run by Genomics England in partnership with the NHS in England.

The study has three main aims:

• Identifying rare conditions in babies earlier: The Generation Study will evaluate the utility and feasibility of using genome sequencing to screen newborn babies for more than 200 rare conditions. These conditions usually appear in the first few years of life, can be improved if caught early and can be treated in the NHS. This aims to improve their health outcomes and quality of life through more timely diagnoses and access to care and treatment.
• Enabling discovery research: With parents’ 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. Approved researchers can access this data in a secure database called the National Genomic Research Library without knowing babies’ identities.
• Exploring the risks and benefits of storing an individual’s genome over their lifetime: Genomics England will continue to engage with the public, parents, healthcare professionals, researchers, rare disease communities and policy-makers to look at the possible benefits, risks, and ethical and practical implications of storing an individual’s genome over their lifetime.

Midwives are critical to the success of the study and the recruitment of participants. Participants may need a lot of support to provide informed consent. This relies on all maternity staff being aware of the study and knowing where to signpost parents to more information. To learn more about genomics in maternity care, information and resources are widely available.

The effectiveness of the study relies on maternity team cohesion. Community midwives are vital for raising awareness of the study and maternity support workers can engage families by providing information and signposting participants to resources. The research team is essential for being able to gain consent and providing detailed information. Midwives assisting at births will collect the samples, but the wider hospital team can help ensure samples are not missed so all families who decide to participate get a result for their baby.

Importantly, the study is not a replacement for the NHS newborn blood spot (NBS) screening test, and all babies should continue to be offered the blood spot test as normal. The study is for research purposes and does not detect all forms of the conditions currently included in newborn blood spot test or return results as rapidly. The study is being carried out to gather evidence that can inform future decisions about expanding newborn screening. It is important that midwives, as well as colleagues in neonatal units and primary care (health visitors and GPs), are aware of this difference and ensure NBS screening has been offered.

Questions?

If you have any questions, please contact the Genomics England Generation Study team at generationstudy@genomicsengland.co.uk