The entire genetic code of up to 100,000 newborn babies in England will be analysed by the NHS, with the aim of speeding up the diagnosis and treatment of more than 200 rare diseases, including Adrenoleukodystrophy (ALD) and Metachromatic Leukodystrophy (MLD).
Alex TLC are involved with the Generation Project. Karen gave a presentation to the team at Genomics England about the importance of genetic testing and we have also reviewed the patient information which will be given to parents if they receive a positive result.
We are hopeful that the evidence generated could help to demonstrate how screening for conditions, including ALD and MLD, could contribute to timely diagnoses, access to care and treatment pathways, and support better outcomes and quality of life for babies and their families.
