An ongoing study being delivered in partnership with the NHS aims to use genome sequencing technology to identify rare genetic conditions in newborn babies, including rare kidney diseases, and to start treating them earlier.
The Generation Study aims to screen 100,000 newborn babies using a technique called ‘whole genome sequencing’ (WGS), which allows clinical experts to analyse a baby’s complete genetic code. Researchers are using WGS to look for genetic variations linked to more than 200 rare conditions, including rare kidney diseases such as Alport syndrome and cystinosis, which can both lead to kidney failure. Most children living with kidney failure have a rare disease.
Newborns are already screened for a range of conditions, but every year babies are born with conditions not covered by existing tests. Detecting and treating these conditions early could improve the health and quality of life of these babies. Researchers want to understand if WGS is a useful tool to detect rare conditions early and if it could be added to, or run alongside, existing newborn screening programmes.
Taking part in the Generation Study
Parents are invited to participate in the study during pregnancy at participating NHS Trusts across England. If they make the informed decision to take part, an umbilical cord sample will generally be collected shortly after birth and analysed. Researchers expect around 99% of babies will be found not to have any of the gene variations being explored in the study.
For the 1% of babies who are found to have a gene variation linked to one of the rare conditions, this discovery could have a big impact. The families of the babies will be contacted to arrange further tests and begin care.
The Generation Study is looking for genetic variations linked with a number of rare kidney conditions, including:
Opening doors to further research
Researchers also hope that the Generation Study could enable wider research in genomics (the study of the genome) and healthcare. They also want to explore whether and how storing a person’s individual genome over their lifetime could support their healthcare. The study is currently scheduled to run until March 2027 although data will be carefully stored for longer and participants will be updated by the study team over the next 16 years.
Rare kidney conditions
Nearly all children with end-stage chronic kidney disease (CKD) have a rare disease, and for 1 in 9 adults with end-stage CKD, kidney failure is due to rare disease.
You can find information about rare kidney disease on our Rare kidney conditions hub, including advice on living with a rare condition and where to find community support.
The Generation Study is being carried out by Genomics England in partnership with the NHS. For more information about the Generation Study, visit generationstudy.co.uk