Dr Abbs is Director of the Regional NHS Clinical Genetics Laboratory in Cambridge. He is a Consultant Clinical Scientist, with over 25 years experience of working in the diagnostic genetics laboratories in Cambridge and previously at Guy’s Hospital, London. His main aim in providing a clinical genetic laboratory service is to provide high quality, cost effective tests for the benefit of as many patients as possible. This has recently been achieved through introducing the first clinical exome sequencing service in the UK, which offers tests for hundreds of different genetic disorders which previously could not be tested for in the UK.
Application of Next Generation Sequencing to improve diagnostic yield and access to genetic diagnosis for patients with inherited rare disorders. Actively involved in promoting, developing and running External Quality Assessment Schemes to improve the quality and consistency of clinical genetic diagnostic laboratory testing.
Health and Care Professions Council, Clinical Scientist
Member of Association for Clinical Genetic Science
Lead Clinical Scientist, NHS England Genomic Clinical Interpretation Partnership for Validation and Feedback
Chair of Special Advisory Group for Molecular Genetics External Quality Assessment, UKNEQAS
Chair of Special Advisory Group for Next Generation Sequencing External Quality Assessment, UKNEQAS / EMQN
Chair of UK National External Quality Assessment Scheme Steering Committee for Molecular Genetics
British Society for Genetic Medicine
European Society for Genetics
Assessor for UK Academy for Healthcare Scientists
