Evidence gap analysis
Strategic analysis of the sufficiency of evidence to obtain reimbursement and HTA approval in Europe and recommendations about evidence generation
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Newborn screening for hereditary tyrosinaemia type 1 introduced in England
Hereditary tyrosinaemia type 1 (HT1) is a very rare genetic condition affecting about seven babies per year in the UK. It prevents the body from breaking down a substance called tyrosine found in food. This leads to the build-up of toxic levels of substances in the blood that can damage the liver, kidneys, and nervous system.
UK National Screening Committee carried out the review in 2022 and recommended screening for HT1.
In March 2024, the English government endorsed the UK National Screening Committee's recommendation to introduce newborn screening for HT1. Testing for HT1 will be added to the NHS Newborn Blood Spot Screening Programme in England.
See more details here and here.
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