Blood samples have been collected from newborns as Genomics England embarks on its Generation Study.
The Generation Study, led by Genomics England in partnership with the NHS, aims to sequence the whole genomes of 100,000 newborns across 40 NHS hospitals to identify treatable rare genetic conditions that present in early childhood (see BioNews 1172). The study has begun at an initial 13 hospitals in England, where more than 500 blood samples have been collected.
'The launch of the Generation Study is a pivotal moment as we look to develop evidence on whether genomic newborn screening should be offered to all children – to do more for the thousands of children born every year in the UK with a treatable genetic condition,' said Dr Richard Scott, chief executive officer of Genomics England. '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'.
The NHS already offers a blood spot (heel prick) test to newborns, where a small blood sample is taken from the bottom of the foot and tested for nine (soon to be ten) serious, but treatable, conditions, such as cystic fibrosis and sickle cell disease (see BioNews 1023 and 1180).
The whole genome sequencing used in the Generation Study is not intended to supplant the blood spot test, but rather expands upon it. This could enable detection and treatment of many more rare genetic conditions that develop during early childhood and have effective treatments available, such as haemophilia, spinal muscular atrophy or metachromatic leukodystrophy. The Generation Study will look for 223 rare genetic conditions in the first instance (see BioNews 1210 and 1213).
It is estimated that 500-1000 of the 100,000 babies who take part in the study will be diagnosed with one of these conditions. Early diagnosis would enable early testing and treatment through the NHS in England. Currently, over 1000 participants have consented to join the study.
Blood samples are typically taken from the babies' umbilical cords shortly after birth. The samples are then processed and analysed by the NHS, and stored as deidentified genomic and health data in the National Genomic Research Library. Only approved researchers will have access to this data.
Adam Clatworthy, vice chair for rare conditions at Genomics England said: 'As a representative of the Genomics England Participant Panel and someone deeply impacted by rare disease, I believe the Generation Study offers incredible hope. By enabling early diagnosis and treatment for these conditions, we have the potential to transform the lives of countless children and their families.'
NHS staff speak with expectant parents during routine checks to guide them through the decision to participate. At the point of birth, parents are asked to confirm their willingness to participate in the study, before their baby's blood sample is taken and sent to a laboratory for sequencing.
NHS genomic scientists then review the results. If a baby is identified as having a rare genetic condition, the diagnosis is confirmed with further NHS testing, followed by ongoing support and treatment from the NHS.
'The Generation Study has the potential to enable children to be treated earlier and therefore have a better outcome for them and their families,' said Dr David Elliman, clinical advisor to the UK National Screening Committee and advisory board member for the Generation Study. 'It is important that the babies in this research study, who are suspected of having a health condition, are followed up carefully for some years to make sure that they have indeed benefitted from being tested and that their parents have not been put through unnecessary anxiety. Only with this sort of information can it be decided whether something like this should become routine.'
Sources and References
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First newborn babies tested for over 200 genetic conditions as world-leading study begins in NHS hospitals
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First newborn babies tested for over 200 genetic conditions as world-leading study begins in NHS hospitals
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First newborns join screening for 200 rare diseases
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Investigating early diagnosis through genomic medicine
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NHS England to screen 100,000 babies for more than 200 genetic conditions
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