Rare Diseases

Health written question – answered on 11th February 2013.

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Photo of Hywel Williams Hywel Williams Shadow PC Spokesperson (Education), Shadow PC Spokesperson (Work and Pensions), Shadow PC Spokesperson (Health), Shadow Spokesperson (Cabinet Office), Shadow PC Spokesperson (International Development)

To ask the Secretary of State for Health whether he has considered introducing a screening programme for patients with (a) severe combined imunodeficiency and (b) other rare diseases.

Photo of Andrew Smith Andrew Smith Labour, Oxford East

To ask the Secretary of State for Health what representations he has received from the National Screening Committee on the introduction of severe combined immunodeficiency screening for newborn babies.

Photo of Daniel Poulter Daniel Poulter The Parliamentary Under-Secretary of State for Health

The UK National Screening Committee (UK NSC) advises Ministers and the national health service in all four countries about all aspects of screening policy and supports implementation. Using research evidence, pilot programmes and economic evaluation, it assesses the evidence for programmes against a set of internationally recognised criteria.

The UK NSC is currently reviewing the evidence for newborn screening for severe combined immunodeficiency against its criteria. A public consultation on the screening review has just closed and Ministers expect to receive a recommendation from the UK NSC shortly.

As part of the NHS Newborn Bloodspot Screening Programme in England all newborn babies are offered screening for phenylketonuria, congenital hypothyroidism, sickle cell anaemia, cystic fibrosis and medium-chain acyl-CoA dehydrogenase deficiency.

On 8 April 2012 the Department announced that an evaluation to investigate extending the NHS Newborn Bloodspot Screening Programme to include the conditions maple syrup urine disease, homocytinuria, glutaric acidaemia type 1, isovaleric acidaemia and long chain fatty acidaemia would begin in July 2012. Screening is offered to the populations served by the screening laboratories in Leeds, Manchester, Sheffield, Birmingham, London (Guy's and St Thomas' and Great Ormond Street). The evaluation will provide evidence that will enable the UK NSC to carry out a thorough review of screening for the above conditions against its internationally recognised criteria.

Where stakeholder organisations or individuals feel that there is enough evidence published in peer reviewed journals to consider screening for other rare conditions they can submit a policy proposal to the UK NSC. Further information is available on the UK NSC's website at:


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