Studies on genomics are continuing to transform care and lives. The Generation study is underway sequencing genomes of newborn babies. Katie Handley, Clinical Lead for Maternal and Child Health, Genomics England explains the study and the impact it is already making. She also points to the important role midwives have in collecting the data.
The Generation Study is a ground-breaking research study which is 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, access to care and treatment.
- Enabling discovery research
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. 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 policymakers to look at the possible benefits, risks, 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. Midwives are advocates, support systems, and skilled professionals – armed with the knowledge and expertise to help guide women towards decisions that are right for them. Genetics and genomics are fundamental to midwifery practice and are included in the NMC standards of proficiency for midwives. The Generation Study is now available to women and birthing parents in 51 different hospitals in England so more midwives who have knowledge of the study means more families will have the opportunity to take part.
Facilitating consent for the Generation Study can take time for many women due to the amount of information there is to process; it’s not just about screening for rare conditions but agreeing to be part of longitudinal research. A layered approach is recommended to give all women and birthing parents time and opportunity to consider the risks and benefits of the study. This relies on all maternity staff being aware of the study and knowing where to signpost parents to for more information. Passive awareness in early pregnancy through leaflets, posters and banners can be followed up by directly asking families if the study is something they are interested in. Parents need time to ask questions and to consider the effect the study may have on their family. The research team running the study have plenty of resources to help parents and wider hospital staff understand genomics, data collection and storage and the returning results process. To learn more about genomics in maternity care more generally, 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 provide detailed information and facilitating the consent discussions. 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. All midwives and maternity support workers can empower families by learning more about the study, leading to confidence and competence in discussing options with those in their care. The Generation Study has the potential to transform how we use genomics in healthcare; midwives who are knowledgeable in the study are at the forefront of this exciting development, having the opportunity to empower families with their confidence and competence.
The Generation Study will give 100,000 babies in England the opportunity for early genetic testing, which could lead to the diagnosis of a rare, genetic condition. The study is looking for more than 200 different conditions, all of which occur in the first few years of life and have a treatment which can modify, delay or cure the condition, available through the NHS. 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 and parents who decide to take part must understand that the Generation Study is an optional extra rather than part of their standard care. It is important that midwives, as well as colleagues in neonatal units and primary care (health visitors and general practitioners) are aware of this difference and ensure NBS screening has been offered.
So far, the Generation Study has contacted 60 families with the news that their baby may have a genetic condition. These children may now receive life-changing treatment far earlier than they could have done should they not have been part of the study.
The Generation Study team would like to thank all midwives for their ongoing work on the study. It is only with your help that the study is possible. If you have any questions, please contact the Genomics England Generation Study team at generationstudy@genomicsengland.co.uk.
Katie Handley, Clinical Lead for Maternal and Child Health, Genomics England.
October 2025