The initiative could speed up diagnoses for rare genetic conditions affecting thousands of children yearly.
England has started a program to expedite diagnosis and enhance care for up to 100,000 babies by screening newborns for more than 200 uncommon genetic diseases.
As part of the Generation Study project, blood samples are extracted from the umbilical cord soon after birth and sent to a lab for whole genome sequencing, which allows all of the DNA in the sample to be identified.
If doctors believe a kid may have an uncommon but treatable genetic condition like hemophilia, growth hormone deficiency, or severe combined immune deficiency (SCID), they want to notify parents within 28 days
These conditions, which affect thousands of patients yearly, often don’t cause symptoms until later in childhood, which can delay diagnosis. Speeding up that process means patients can receive treatment sooner, potentially boosting their prognosis and quality of life.
More than 500 blood samples have already been taken from newborns in 13 NHS hospitals, with plans to expand the programme to about 40 centres.
The new study is an add-on to the heel prick test, which is offered to families with five-day-old babies and used to detect nine rare conditions. Researchers hope that whole genome sequencing will enable them to identify hundreds more potentially life-threatening conditions.
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