Provide external quality assessment and educational material for end to end genomic testing for laboratories and clinical genetics centres globally to promote good practice, standardisation and patient safety through Genomics Quality Assessment (GenQA). Image Professor Sandi Deans Research in a Nutshell Develop and implement external quality assessment for all elements of genomic testing; clinical genetic referrals, sample handling and nucleic acid extractions, molecular and cytogenomic testing, data interpretation including the classification of pathogenicity of variants, accuracy of result reporting and interpretation within the clinical context of the referral. Professor Deans is Deputy Director Genomics, NHS England and Consultant Clinical Scientist and Director, GenQA/UK NEQAS for Molecular Genetics. NHS England » NHS Genomic Medicine Service GenQA Team Contact Sandi.Deans@ed.ac.uk info@genqa.org Collaborations AstraZeneca Eli Lilly EMQN CIC Genomics England Ltd International Quality Network for Pathology LGC/SeraCare Merck (MSD) NHS England and NHS Improvement Public Health England SensID UK National External Quality Assessment Schemes People Prof Sandi Deans Group Leader Dr Ros Hastings Consultant Clinical Scientist (Cytogenomics) Dr Katrina Rack Deputy Director, Principal Clinical Scientist (Cytogenomics/Haematology) Melody Tabiner Deputy Director, Principal Clinical Scientist (Cytogenomics) Mark Sales Deputy Director, Principal Clinical Scientist (Cytogenomics) Fiona Morgan Deputy Director, Principal Clinical Scientist (Cytogenomics/Haematology) Dr Jenni Fairley Deputy Director, Principal Clinical Scientist (Molecular Pathology) Farrah Khawaja Deputy Director, Principal Clinical Scientist (Molecular Genetics) Becky Treacy Deputy Director, Principal Clinical Scientist (Molecular Genetics) Dr Dave Cregeen Deputy Director, Principal Clinical Scientist (Molecular Genetics) Fiona Moon Senior Genetic Technologist Abbie Trosh Genetic Technologist Cheryl Guiver Laboratory Scientist Bettina Quellhorst-Pawley Quality Manager Wendy Hannant Operational Manager Kerry Liney Healthcare Associate Scientist Effy Kougia Healthcare Associate Scientist Emily Walshe Healthcare Associate Scientist Kaleb Beard Healthcare Associate Scientist Anna Nosorowska Administrator Scientific Themes Genomics, quality assurance, molecular genetics, cytogenomics, haematology, solid tumour molecular pathology, variant classification (SNVs, CNVs, SVs), non-invasive prenatal testing, cell-free tumour testing, preimplantation genetic testing, molecular newborn screening and ISCN nomenclature. Technology Expertise Molecular genetics, cytogenomics, haematology, solid tumour molecular pathology, DNA quality and quantification, solid tumour tissue assessment, NGS, non-invasive prenatal testing, cell free tumour testing, preimplantation genetic testing and molecular newborn screening. This article was published on 2024-09-23
