Expansion and renewal of newborn screening in UK and US

5 January 2015

The panel of conditions tested for at birth in England using heelprick bloodspot samples almost doubled today with the addition of four new diseases.

The four new conditions are all rare genetic metabolic conditions: maple syrup urine disease (MSUD), homocystinuria (HCU), glutaric acidaemia type 1 (GA1) and isovaleric acidaemia (IVA). They join the previous panel of five disorders, phenylketonuria (PKU), congenital hypothyroidism (CHT), sickle cell disease, cystic fibrosis and medium-chain acyl-CoA dehydrogenase deficiency (MCADD).

The new conditions are all very rare – Public Health England (PHE) expects only small numbers of cases to be found each year. However, if detected quickly, medical interventions can all be made to prevent or reduce the harm wrought by untreated conditions, preventing severe brain damage or death in many cases.

PHE announced the decision to expand the newborn screening panel last May. Wales is due to begin the wider screening from next month, but no decision has been made for Scotland and Northern Ireland.

The expansion has been welcomed by the PHG Foundation, which first recommended it as long ago as 2010 based on a review of the available evidence. In 2014, the Foundation urged inclusion of five new metabolic disorders by the National Screening Committee in 2014 following a pilot scheme.

Meanwhile, the US government has approved another five years of state funding for newborn screening by passing The Newborn Screening Saves Lives Reauthorization Act, an amendment to the Public Health Service Act first enacted in 2008.

The Act provides federal funding and encourages the use of a uniform panel of 31 conditions by all states, which is still a much larger group of conditions than those tested for in the UK. It also introduces new requirements for parental consent to federally-funded research using the stored newborn bloodspot sample cards.

Long-term supporter of the Act Congressman Simpson commented: "Besides the obvious benefit to families who suffer an enormous emotional and economic burden when a one of these conditions goes undiagnosed for too long, this legislation is a powerful tool for savings in our already overburdened health care system".

One news report uses the startling illustration of the diagnosis of severe combined immunodeficiency (SCID), comparing the treatment costs for a bone marrow transplant (if possible) of around $100,000 compared with $2 million for the first two years of life alone. SCID is screened for in 25 US states following recommendation by the US government in 2010, and the FDA has just approved the first commercial screening test, which may expand uptake since some states require newborn screening to use only FDA-approved tests.

The US is also examining the potential for genome sequencing in newborn screening, but this significant practical and ethical barriers would exist to implementation of such an approach.

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