Pioneering study to identify rare conditions signs up 1000 babies in Manchester
A ground-breaking research study to help identify and treat rare genetic conditions in newborn babies has reached a major milestone with the recruitment of its 1,000th baby at Manchester University NHS Foundation Trust (MFT).
The Generation Study, which is led by Genomics England in partnership with NHS England, offers whole genome sequencing testing for newborn babies to help identify more than 200 rare genetic conditions that can be treated early in life.
The study is aiming to recruit 100,000 families nationwide including parents like Alex Taylor, a midwife who lives in Manchester who gave birth to her son Jesse in September.
Alex, who is originally from Kent and also has a five-year-old daughter, found out about the programme through her work as a community midwife. She described it as a ‘no-brainer’ for parents to take part:
“As a midwife working in the community, I was aware of the programme and thought it would be a good idea to take part and find out about my son’s health. It tests for so many conditions, so it seemed like a no brainer.
“Some of my friends have children with rare conditions so we wanted to get the test done so that we have as much information as possible. We have received the results, and Jesse doesn’t have any of the conditions they tested for which is fantastic.”
Alex with her son Jesse
Alex has been a midwife for nearly two years having retrained following the birth of her daughter, and her desire to do something more meaningful while helping other women have a good experience of pregnancy and childbirth.
She added that parents shouldn’t be concerned about any harm to their baby: “Some parents may be concerned that the test will be painful for their baby, but the sample is usually taken from the umbilical cord, so your baby won’t feel a thing.”
Recruitment for the Generation Study at MFT began in November 2024 and is currently active across three hospitals in Manchester: Saint Mary’s Hospital, North Manchester General Hospital, and Wythenshawe Hospital. All three sites are part of MFT, which is the largest NHS trust in the UK and a national leader in genomic medicine.
Professor Siddharth Banka, Consultant Clinical Geneticist, Manchester Centre for Genomic Medicine – Manchester University NHS Foundation Trust and Principal Investigator for the study across MFT, said: “Reaching this milestone is a testament to the commitment of our teams and the families who have chosen to take part.
“By helping to build one of the largest newborn genomic datasets in the world, we are laying the foundations for earlier interventions and more personalised care for children and their families.”
The enthusiasm from both healthcare professionals and families in Manchester has been remarkable. Each family that participates contributes to a future where rare genetic conditions can be identified and managed much sooner, ultimately transforming lives.
Dr Amanda Pichini, Clinical Director at Genomics England, said: “The Generation Study aims to develop critical evidence on whether genomic newborn screening should be offered to all children – which we hope can help to do more for the thousands of children born every year in the UK with a treatable genetic condition.
“With their permission, participants also help us to support broader healthcare research, so our knowledge improves and we can identify more conditions and treatments. Only approved researchers from approved institutions will have access to this consented data – without knowing babies’ identities – to safely conduct important research and make new health discoveries.”
Recruitment remains open at the three MFT sites, and families giving birth at these hospitals and wanting to take part should speak to their care team to find out more.
All parents will receive a result, and most babies will not be found to have any of the gene changes known to cause the genetic conditions in the study. However, for the small number of babies who are found to have a condition the impact could be lifechanging.
The study abides by a rigorous data protection process to ensure you and your babies’ identity will be protected. The data collected is stored in a secure database, called the National Genomic Research Library, where genetic and health data from thousands of people is accessed for research. This data will be de-identified, provided with consent, and can only be accessed by approved researchers.
