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<p>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.</p><p> </p><p>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.</p><p> </p><p>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.</p><p>
</p><p>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.</p><p> </p><p>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.</p>
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