Since we started up 14 new Genomics Communities of Practice earlier this year, we have run over 60 sessions attended by hundreds of healthcare staff across our region.
Below you can find out more about some upcoming Genomics CoP sessions, including links to register.
9 October: Familial Hypercholesterolaemia
Topic: Overview of the Wales FH Service
- Service structure
- Index testing & genetic testing criteria
- Cascade testing & recent developments
- Clinical examples such as segregation testing & inheritance of digenic FH - Overview of PASS (Patient Access Support System)
Speaker: Kate Haralambos, FH Network Manager, FH Service, University Hospital of Wales.
10 October: Prenatal
Topic: Prenatal Genomics: An annual review and discussion of case studies with University Hospitals of Leicester Fetal Medicine Team
Speakers:
- Tommy Mousa, Consultant, Fetal and Maternal Medicine, University Hospitals of Leicester NHS Trust
- Pradeep Vasudevan, Head of Clinical Genetic Service, University Hospitals of Leicester NHS Trust
14 October: Cancer in Patients 0-25 (Solid and Haem-Onc)
Topic: Tumours in young people have an unusually low mutation rate, or do they?
Speaker: Henry Lee-Six, Histopathology registrar, Addenbrooke’s Hospital, Cambridge, Junior Research Fellow, Trinity College, Cambridge & Postdoctoral Fellow, Behjati Lab, Wellcome Sanger Institute, Hinxton
The session will cover:
- Tumours from young patients have low mutation burdens when sequenced using standard approaches
- Standard approaches, however, miss mutations that are restricted to a small subset of the tumour
- We reconstructed the life history of neonatal Wilms tumours using single cell-resolution methods and showed that the mutation burden, at the single cell level, was much higher than previously thought
- This may have implications for the management of tumours of the very young
15 October: Lung Cancer
Topic: Updates from the World Conference on Lung cancer 2025
Speaker: Jason Adhikaree, Oncology & Radiotherapy, Consultant Clinical Oncologist, Nottingham University Hospitals NHS Foundation Trust
17 October: Immunology
Topics: Remaining Curious: Later Diagnosis of Inborn Errors of Immunity
Speaker: Dr Helen Baxendale, Consultant Clinical Immunology, Royal Papworth and Addenbrookes Hospital NHS Foundation Trusts, Honorary Visiting Fellow University of Cambridge
Content:
- Ascertainment bias: Expanding the phenotype
- Keeping up to date
