Seminar #3

Molecular Diagnostics in Haematological Malignancies

National Health Laboratory Service
Sponsor: Novartis

No invitations necessary; open to all conference registrants

Saturday, 3 December 
CTICC room location: 2.44-2.46

Pathologists , Registrars, Medical Technologists, Scientists, Diagnostic Suppliers.


The advent of recent new technologies that provide information on the complete genome of tumors, has revolutionized cancer diagnosis, opening new possibilities for existing and future treatment adapted to each individual and an improved patient follow up strategy.

The field is rapidly evolving and calls forth in-depth genetic knowledge and the integration of molecular diagnostic methods towards improved patient management.

This seminar will take the participant through every aspect of molecular diagnostics in haematological malignancies. This includes cytogenetics and FISH, copy number aberrations and microarray technologies, molecular monitoring of disease as well as Next Generation Sequencing platforms.
This workshop will take the form of both short theoretical lectures as well as practical demonstrations and exposure to the latest automated molecular tools covering this platform.

Through this seminar we would like to address the application of the more well-known and well-used platforms as well as the newer technologies becoming available.


  • To gain knowledge and practical exposure in molecular cytogenetics and molecular diagnostic tools in the context of haematological malignancy and to improve understanding of the appropriate application of these testing platforms in patient diagnostics and management.


Dr Pascale Willem. National Health Laboratory Services, Head of Somatic Cell Genetics Unit in the Department of Molecular Medicine and Haematology, Charlotte Maxeke Johannesburg Academic Hospital and University of Witwatersrand.
P Willem heads and started the Somatic Cell Genetics unit in 1990, now the largest cancer genetic laboratory in the country. The unit has for broad objective to apply current molecular cytogenetic techniques for the diagnosis of cancer, and to develop, evaluate and implement cost efficient molecular diagnostic techniques. Dr Willem has initiated local and international collaborations notably with the group of Riccardo DallaFavera at the Herbert Irvin Cancer Institute in New York. She is the recipient of a NIH grant on HIV associated lymphomas as well as several National and International grants all focused on the genomic characterization of cancer.

Dr Jacky Brown, Medical Scientist in Department of Molecular Medicine and Haematology, National Health Laboratory Services.
Jacqueline Brown is a medical scientist who has been an employee of the NHLS in the Somatic Cell Genetics Unit (SCGU), Department of Molecular Medicine and Haematology at WITS medical school since January 2005. She first joined the unit as an Honours student in 2002. She holds a joint position in the Faculty of Health Sciences at WITS University where she is involved in various teaching activities for the Department of Molecular Medicine and Haematology. Her major function is in the molecular diagnostic side of the SCGU and herknowledge in leukemia and solid tumor associated genetic aberrations is substantial, having performed the diagnostic tests and now supervises the FISH and aspects of the molecular diagnostic work.Her research background is in cancer cytogeneticsandshe completed a PhD on the molecular characterization of esophageal squamous cell carcinoma in December 2011, which was mainly a microarray based study

Dr Nikki Bouwer, National Health Laboratory Services Charlotte Maxeke Johannesburg Academic Hospital & University of Witwatersrand, Consultant Haematologist.
Dr Bouwer completed her MBChB degree at Pretoria University in 2006 and completed internship and community service in the South African Military Health Services. She joined the National Health Laboratory Services and University of Witwatersrand in 2011 as a registrar in Haematology. She completed her FCPath(Haem) degree in 2014 and has been employed since as a consultant haematologist in the department of Molecular Medicine and Haematology. Dr Bouwer enjoys all aspects of Haematology with a particular interest in molecular diagnostics and she currently is employed  in the Somatic Cell Genetics Unit at Charlotte Maxeke Johannesburg Academic Hospital.