Researchers in Hull are celebrating after reaching a major milestone in a newborn genetic screening study.
Within less than a month of the Generation Study launching in Hull and East Yorkshire, the team based at Hull Women and Children’s Hospital is celebrating recruitment of the 100th participant to the project.
In the space of just four weeks, the team has also obtained 58 samples which have now been sent off for genetic screening.
Obstetrics and gynaecology consultant and principal investigator, Dr Uma Rajesh, is leading the study team, supported by research lead midwife, Sarah Collins.
Sarah says:
“The Generation Study is a hugely important piece of work, not just because it will help broaden our understanding of genetic conditions as health professionals, but because we know it means a lot to local parents and families too.
“Since we announced we would be joining the study in January, we’ve had lots of interest from local families and parents-to-be asking how they can get involved or sign up to take part.
“We’re proud to have achieved such a significant recruitment milestone in such a short space of time and would like to thank staff working within maternity services who have helped to make this possible.
“The study offers local people the chance to access potentially life-changing information about their baby’s health at a very early stage, so we want as many families as possible to be given the opportunity to join in.”
The Hull-based team is one of more than 40 NHS Trusts now recruiting to the Generation Study, led by Genomics England in partnership with NHS England.
This pioneering study seeks to screen newborn babies for more than 200 rare genetic conditions by offering whole genome sequencing using blood samples normally taken from the umbilical cord shortly after birth.
The aim is to identify conditions such as spinal muscular atrophy and metachromatic leukodystrophy (MLD) in babies sooner, through screening 100,000 study participants.
Hundreds could also benefit from earlier diagnosis and treatment that could help slow the progression of disease and improve or even extend their lives.
The sequencing identifies treatable, rare conditions shortly after a baby is born rather than when symptoms might appear later in childhood. This means families can access the right support, monitoring, and treatment from the NHS much earlier for these conditions. In turn, effective early intervention can help to prevent longer term health problems associated with certain conditions, keeping children out of hospital, and helping them live healthier lives.
If a newborn baby is identified as having a treatable childhood condition through the genome sequencing, families and carers will be provided with further NHS testing to confirm a diagnosis, and ongoing support and treatment from the NHS.
Every year, thousands of children are born in the UK with a treatable rare condition with genetic testing usually taking place in the NHS Genomic Medicine Service when the child has developed symptoms – with children under the age of 5 disproportionately affected.
The existing NHS blood spot screening (the heel prick test) is used to detect 10 rare but serious health conditions in newborn babies. The Generation Study is not intended to replace this routine screening, and it is important that whatever decision parents make about participation in the Generation Study, their baby still has the blood spot test.
It is hoped that screening babies’ entire genomes – all of their DNA – could detect hundreds more rare, treatable diseases in their first years of life.
NHS teams will also provide families with advice on how to manage different conditions, for example for one of the conditions, osteogenesis imperfecta, parents can be advised on handling of their newborn to prevent long-term damage to their child’s bones.
The study will also support broader healthcare research to improve testing and discover more treatments and explore the potential of storing an individual genome over a person’s lifetime and using it to help predict, diagnose and treat future illnesses.
How to take part:
Parents-to-be will be made aware of the study during pregnancy and, if they are interested, they will be offered a follow-up discussion with a research midwife for more details. If you would like to know more but haven’t spoken to a health professional about the Generation Study yet, please ask for details at your next antenatal appointment or go online to learn more at www.generationstudy.co.uk