NEWBORN SCREENING: QUICKER DIAGNOSES FOR GENETIC CONDITIONS
Last Reviewed 14/12/2017
By Jess Bateson
Newborn screening in the UK tests infants shortly after birth for a number of conditions. This series of tests deliver the quickest possible diagnosis of most genetic conditions, often before symptoms appear.
The rapid diagnosis newborn screening offers can be extremely valuable for those babies born with a genetic condition. This is because:
Treatment can be delivered as soon as possible.
Carers and clinicians can start taking precautions to prevent some of the damage the condition can cause.
It gives families answers straight away, reducing the worry experienced by parents about why a child is ill and waiting for a diagnosis.
Couples can plan their family better informed.
Newborn screening for Severe Combined Immunodeficiency (SCID)
Earlier this year, Professor Bobby Gaspar, an expert in paediatrics and immunology at Great Ormond Street Hospital (GOSH) and the UCL Institute of Child Health, spoke at our Annual Conference about SCID. He highlighted in his keynote speech how newborn screening and novel therapies could vastly improve the outcomes for rare genetic conditions like SCID, predicting this could bring us from a 100% mortality rate to a 100% survival rate for SCID patients.
Last night Prof. Gaspar confirmed on BBC’s The One Show that a pilot study will be held in 2018 to trial the introduction of newborn screening for SCID. After 6 years of campaigning for this screening, he talked about how this early detection would not only improve the survival rates and treatment for patients, but would also have a positive economic effect on the treatment of SCID for the NHS.
The UK National Screening Committee proposed a pilot for ADA SCID in June this year; publication of the final recommendations came on 6 December this year. See the press release here.
Dr Jayne Spink, our Chief Executive said:
‘We’re delighted that there will be a trial of newborn screening for SCID, and commend the UK National Screening Committee for a decision that will inevitably save lives. After the enormous efforts of Professor Bobby Gaspar and the patient community we welcome this as positive news that gives affected families the benefits of a swift diagnosis.’
You can see The One Show segment on newborn screening for SCID here.