Genetics: Screening

(asked on 5th June 2018) - View Source

Question to the Department of Health and Social Care:

To ask the Secretary of State for Health and Social Care, what assessment (a) his Department and (b) Public Health England have made of the role of (i) genetic testing and (ii) population level genomic data to improve public health.


Answered by
Caroline Dinenage Portrait
Caroline Dinenage
This question was answered on 13th June 2018

The United Kingdom National Screening Committee recently recommended that the use of Non-Invasive Prenatal Testing should be evaluated as an additional screening test in the antenatal screening programme for Down’s syndrome, Edwards’ syndrome and Patau syndrome. In addition to this, the use of next generation sequencing is currently being evaluated in the diagnostic pathway for babies found to be screen positive for cystic fibrosis.

From October 2018, the National Health Service’s Genomic Medicine Service will, for the first time, be supported by a comprehensive directory of genomic tests for specified cancers and rare diseases that encompasses the entire testing repertoire from Whole Genomic Sequencing to tests for single genes, molecular markers and other functional genomic tests.

This National Genomic Test Directory will be updated on an annual basis to keep pace with scientific and technological advances with a systematic review process in place to ensure continued value through the co-ordinated replacement of older tests with new and emerging approaches.

The Test Directory will be updated annually, following advice from an expert scientific and clinical committee that will be established to operate in accordance with NHS England’s specialised services commissioning processes.

The Chief Medical Officer for England’s annual report ‘Generation Genome’ provided a comprehensive overview of the role of clinical genomic testing and is being taken forward via the Minister-chaired National Genomics Board.

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