Hereditary Diseases: Screening

(asked on 22nd June 2015) - View Source

Question to the Department of Health and Social Care:

To ask the Secretary of State for Health, what the annual cost to the NHS is of providing screening for (a) sickle cell disease, (b) cystic fibrosis, (c) congenital hypothyroidism, (d) phenylketonuria, (e) medium-chain acyl-CoA dehydrogenase deficiency, (f) maple syrup urine disease, (g) isovaleric acidaemia, (h) glutaric aciduria type 1, and (i) homocystinuria (pyridoxine unresponsive) (i) in total and (ii) on average per each test delivered; and how many such tests were undertaken in the latest year for which figures are available.


Answered by
 Portrait
Jane Ellison
This question was answered on 30th June 2015

Data on the annual cost to the National Health Service of providing screening for sickle cell disease (SCD), cystic fibrosis (CF), congenital hypothyroidism (CHT), phenylketonuria (PKU), medium-chain acyl-CoA dehydrogenase deficiency (MCADD), maple syrup urine disease (MSUD), isovaleric acidaemia (IVA), glutaric aciduria type 1 (GA1) and homocystinuria (pyridoxine unresponsive)(HCU) are not held centrally.

From Public Health England data, the following number of tests were undertaken in England in 2014/15:

Number tested for PKU

Number of babies tested for CHT

Number of babies tested for CF

Number of babies tested for MCADD

Number of babies tested for SCD

England

673,328

673,233

671,120

672,107

668,117

No data is available for MSUD, IVA, GA1A and HCU as screening was not routinely offered until January 2015.

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