Rare Diseases: Screening

Department of Health and Social Care written question – answered on 8th October 2019.

Alert me about debates like this

Photo of Baroness Redfern Baroness Redfern Conservative

To ask Her Majesty's Government what assessment they have made of the report by Genetic Alliance UK Fixing the Present, Building for the Future: Newborn screening for rare conditions, published in July, in particular its finding that the UK tests for fewer conditions in new-borns in its new-born bloodspot screening programme than similar high income countries; and what plans they have to increase the number of serious conditions they test for.

Photo of Baroness Blackwood of North Oxford Baroness Blackwood of North Oxford The Parliamentary Under-Secretary for Health and Social Care

In the United Kingdom, screening is an end to end service from test to treatment. This is not necessarily the case in other countries such as the United States of America. Therefore, comparisons with other health systems can be misleading.

In April 2014, the UK National Screening Committee (UK NSC) recommended extending the newborn bloodspot screening programme to include four additional conditions: maple syrup urine disease; homocystinuria; glutaric acidaemia type 1; and isovaleric acidaemia. The newborn blood spot screening is currently offered to all babies to identify nine conditions, as recommended by the UK NSC.

The UK NSC welcomes any new topic proposals through its annual call for topics. Using research evidence, pilot programmes and economic evaluation, the UK NSC assesses the evidence for programmes against a set of internationally recognised criteria. To ensure that screening is offered where the balance of benefit outweighs the harms.

In August 2019, the UK NSC published Generation genome and the opportunities for screening programmes. The report reflects the specific opportunities identified by each of the 11 population screening programmes, including the antenatal and newborn screening programmes. The report concluded that the advances in genomic technologies present exciting and potentially effective developments for screening programmes. Current and developing research and technology will be used to determine how, in future, genetics can best be used in screening. A copy of the report is attached.

Generation_genome (PDF Document, 1.48 MB)

Does this answer the above question?

Yes0 people think so

No0 people think not

Would you like to ask a question like this yourself? Use our Freedom of Information site.