Do you work in: Clinical Genetics / Genetic Counselling Neurology Paediatrics Paediatric endocrinology Metabolic medicine Renal medicine Neonatology Paediatric oncology Haematology Pathology Do you work in an NHS Trust in our region? If so, you need to know that whole genome sequencing (WGS) in the NHS will soon be available for some rare disease indications, acute leukaemia, paediatric cancer and sarcoma. […]
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Update on 100,000 Genomes Project
Rare disease results Our GMC has now reported over half of all the rare disease results for patients that were recruited. Almost all the data has now been returned by Genomics England and the genetics laboratories in Cambridge and Nottingham are working flat out to report all remaining cases by April 2020. Any queries regarding the […]
Creating genetic reports that can be understood by nonspecialists – help needed
As genetic and genomic testing is being mainstreamed there is an increasing requirement for non-specialist clinicians to explain the results of these tests to patients. A recent collaboration between the East of England Genomic Medicine Centre and the University of Cambridge led to the development of a report template that could be adapted to specific […]