More than 500 blood samples have already been taken from newborn babies at 13 NHS hospitals in a major study that will screen the infants for genetic disorders, with plans to eventually scale up to around 40 hospitals, say British health authorities.
Ultimately, 100 000 newborn babies will be screened for dozens of genetic conditions as part of the project.
The Generation Study, led by Genomics England in partnership with NHS England, will see the infants offered whole genome sequencing through blood samples, usually taken from the umbilical cord shortly after birth.
The Independent reports that the study will help identify more than 200 rare conditions, such as Metachromatic leukodystrophy (MLD), which causes a progressive loss of physical and mental skills.
By detecting these rare genetic conditions sooner, hundreds of children could benefit from earlier diagnosis and treatment that could help slow progression of the disease or extend their lives.
At the moment, these conditions can be hard to diagnose, leading to delays in care.
Whole genome sequencing provides a readout of a person’s entire genetic code and looks for changes that relate to specific health conditions.
The Generation Study screens for these conditions in babies who appear healthy, but whose symptoms may not become apparent until later in life.
As part of recruitment to the study, pregnant women and their partners are being told about the research during routine checks and invited to take part.
If they choose to, an NHS doctor, nurse or midwife confirms at the time of birth they are happy to proceed and then a blood sample is collected and sent to a laboratory for sequencing.
Parents are given the results of the test within 28 days if a condition is suspected, or within a few months if no problems are picked up.
If a newborn baby is identified as having a treatable childhood condition, their families and carers will be offered further NHS testing to confirm the diagnosis, plus ongoing support and treatment.
The routine NHS blood spot screening (the heel prick test) is currently used to detect nine rare but serious health conditions in newborn babies, and the Generation Study will not change this: it is designed as an extra test.
Dr Rich Scott, chief executive officer at Genomics England, said the launch of the study was “a pivotal moment”, adding: “Children with these conditions often go years without receiving a diagnosis.
“Cutting this time would mean earlier access to what can be life-changing treatment.”
See more from MedicalBrief archives:
UK to begin genome testing on 100 000 UK infants
Opening the genetics Pandora box
Rare cause of hereditary cancer being missed, say US scientists