APR 29, 2021 4:35 PM CEST

Haematological malignancy samples molecular characterization - in a NGS way

C.E. Credits: P.A.C.E. CE Florida CE
Speaker
  • Senior Clinical Scientist, Department of Haematology, Royal Liverpool University Hospital
    Biography

      Dr. Lihui Wang obtained her quantification in Medicine in Peking University, China and her PhD degree in the University of Liverpool. She has been active in research on a variety of haematological malignancies in China, France, Scotland and England. Dr. Wang has been a Senior Clinical Scientist in Department of Haematology, Royal Liverpool University Hospital since year 2000. She has integrated both research project and NHS service to improve the molecular diagnosis, prognosis and monitoring for patients with haematological malignancies. Her research was mainly in investigating the role of BCR-ABL1 gene transcript monitoring in CML (Chronic Myeloid Leukaemia) patients under various clinical settings, the mechanism of tyrosine kinase inhibitor resistance in CML and the molecular mechanism of CML blast crisis (BC) transformation.



      Dr. Wang has been involved in establishing and standardising BCR-ABL1 gene transcript monitoring in Liverpool, UK and across the world (WHO standard). Her role in NHS service was to establish and supervise molecular diagnostic and molecular monitoring service for patients with chronic myeloid leukaemia (CML), acute leukaemia and myeloproliferative neoplasms (MPN). Since 2018, Dr. Wang has been the Lead Scientist for Molecular Diagnostics, Haemato-oncology Diagnostic Service (HODS) in Royal Liverpool University Hospital. Her role was to establish and supervise the Haemato-oncology molecular diagnostic service for the region of Merseyside and Cheshire. Since 2019, Dr. Wang has been the Lead Scientist for NHS England Northwest Liverpool LCL Genomic Laboratory Hub (GLH).


    Abstract

    Next Generation Sequencing (NGS) based molecular tests have been the one of the major focus for the expansion of molecular service provided by Haemato-oncology Diagnostic Service (HODS) in Royal Liverpool University Hospital. The move of NGS platform from Ion PGM to GeneStudio has enabled us to meet the requirement of molecular diagnosis for haematological malignancies. The further move to Genexus system is a way to improve turnaround time and capacity of the NGS tests. With Genexus platform we have been able to expand our NGS test repertoire even further to customised panels.  Customised panel based on Ion Ampliseq technologies provide the flexibility of NGS assay for both molecular diagnosis service and in depth molecular characterisation of haematological malignancy samples At an integrated part of the NGS platform evolution, the data analysis workflow has been optimized and validated to generate clinical relevant variant calling. The use of fusion transcript NGS screening for fusion transcript copy number change has also been explored.

    Learning Objectives:

    1. S5 evolution of service and benefits of NGS by Genexus

    2. Set-up of Genexus in a Molecular Laboratory


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