7th Applied Genetics Workshop

The 7th Applied Genetics Workshop (no cost) formed part of an ethically approved translational research project. A unique feature of this event is a deliberate focus on bringing the explosion of data from a post-genomic world into the
reality of daily clinical practice. Our results of a recent needs assessment survey among clinicians have identified important knowledge gaps and service opportunities that we need to respond to.
This makes your input and participation vital as we continue to define the way forward. Past accomplishments, present challenges and future opportunities will provide the landscape for discussion.

GeneTalk Workshop Date: 26 October 2012

Time: 8h30-16h00

Venue: Faculty of Health Sciences, Francie van Zijl Drive, Clinical Building, 1st Floor, University of Stellenbosch, Tygerberg, CAPE TOWN

5 Clinical and 2 Ethics points approved

GeneTalk Workshop Program: 26 October 2012

8h30: Registration [order of speakers subject to change]

9h00: Introduction: Pathology and Genetics – Prof Johann Schneider,Head: Dept of Pathology, University of Stellenbosch

9h15: Pathology supported genetic testing: Past, present and future – Prof Maritha J Kotze, Medical Scientist, University of Stellenbosch

9h30: Breast Cancer GeneScreen: Transcriptional profiling to reduce chemotherapy overtreatment by Kathy Grant – PhD student, University of Stellenbosch and Cape Peninsula University of Technology

9h45: Exome sequencing: A healthcare resource for diagnosis and discovery over a lifetime – Dr Junaid Gamieldien, Bioinformaticist, University of the Western Cape

10h30: The Wellness GeneScreen: A meaningful genetic testing experience? – Dr Paul de Flamingh, Private Practicing Gynaecologist


11h15: An integrative healthcare model for personalized medicine – Dr Martin de Villiers, Health Management Consultant

12h00: Ethical considerations for implementation of genomic medicine – Mardelle Schoeman, Genetic counsellor, Tygerberg Academic Hospital and University of Stellenbosch

13h00: LUNCH

13h30: What clinicians should know: Basics of genetics – Kobus Pretorius, MSc student, University of Stellenbosch

14h00: New application: Sport Injury GeneScreen – Dr Alison September (& Prof M Collins), Medical Scientist, University of Cape Town

14h30: New application: Demyelinating Diseases GeneScreen – Prof SJ van Rensburg, Medical Scientist, NHLS and the University of Stellenbosch

15h00: Genomic Research Advancing Clinical Excellence: The GRACE initiative – Dr Frans Cronje, Dept Interdisciplinary Medicine, University of Stellenbosch

15h30: PANEL DISCUSSION – Chair: Prof Tony Bunn, Innovation Centre, SA Medical Research Council

The expert panel includes the following members confirmed to date:
Dr Rika Pienaar, Dr Heloise Avenant, Dr Helen Muir, Dr Hein Badenhorst, Dr Dawie van Velden & Prof Manie de Klerk.
The outcome of this workshop activity will be summarised for possible publication in an accredited medical journal and specific contributions made by workshop participants will be acknowledged accordingly.

As described in a series of articles published in Metabolic Brain Disease during 2012, PSGT provides an individualised approach whereby genetic tests are combined with biochemistry or other relevant pathology measurements to
identify subgroups of patients requiring different intervention strategies. The finding that genetic risk factors frequently overlap between complex diseases such as cardiovascular disease (CVD), Alzheimer’s disease, multiple sclerosis, depression and cancer, provides a unique opportunity for prevention of cumulative risk targeted at shared disease mechanisms.

GENESCREEN TEST DEVELOPMENT FOR CLINICAL APPLICATION: The Breast Cancer GeneScreen includes several separate test options, namely the 70-gene MammaPrint® Profile for chemotherapy selection, BRCA1 and BRCA2 mutation detection for familial breast cancer, and CYP2D6 pharmacogenetic testing for Tamoxifen resistance and selection of appropriate anti-depressants, etc. The newly developed Demyelinating Diseases GeneScreen and Sport Injury GeneScreen are based on methodologies patented by the South African Medical Research Council and the Universities of Stellenbosch and Cape Town. The Wellness GeneScreen is a combination of tests based on an extension of the Cardiovascular GeneScreen patented by the Medical Research Council in 2001. It includes genetic variations underlying dyslipidaemia, thrombophilia, insulin resistance, obesity, inflammation, and iron overload also tested separately in the Iron Disorders GeneScreen. A comprehensive Prescription GeneScreen focused on drug side effects/failure related to a variety of medical conditions will soon be available in collaboration with Dr Armand Peeters of Belgium, who obtained his PhD degree at the University of Stellenbosch several years ago. Members of the respective research teams, as domain experts, remain responsible for authorisation of test reports before release back to the consulting healthcare practitioner. Genetic counselling is offered in collaboration with local and international laboratories using a secure online data integration and service delivery system freely accessible to healthcare practitioners. This enables the combination of different pieces of information into a single estimate of risk or intervention plan tailored to the needs of the individual