4th Applied Genetics Workshop


4th Applied Genetics Workshop

Heart Health and Breast Cancer

Cape Town: 18-19 September 2009

Durban: 23 September 2009




DAY 1 OPTION A: 18 September 2009, Faculty of Health Sciences, Teaching Block, 4th Floor, Lecture Room K4053B, University of Stellenbosch, Tygerberg

8h30

Registration


9h00

 


Introduction: Pathology and Genetics

 


Prof J Schneider – Head: Department of Pathology, University of Stellenbosch and NHLS, Tygerberg


9h30

 


Point-of-care applications in wellness programs and chronic disease risk management


Prof R Erasmus – Head: Division of Chemical Pathology, University of Stellenbosch and NHLS, Tygerberg


10h00

 


Ethics and genetics


Prof K Moodley – Bioethics Unit, University of Stellenbosch, Tygerberg.


11h00


Break



11h15

 


Personalised medicine and new generation direct-to-consumer genetics: A GPs perspective



Dr H Avenant – Blueprint Health (Pty) Ltd., Bellville


12h00

 


Pocket pathology: Development of a lab-on-a-chip genetics system with applications to cardiology


Jonathan O’Halloran – QuantuMDx Technologies, University of Stellenbosch, Tygerberg


12h30

 


Development of a web-based genetic testing service delivery system

 


Dr Maritha Kotze – Dept of Pathology, University of Stellenbosch, Tygerberg & Gknowmix


13h00


Lunch


13h30

 


Risk assessment of breast cancer in clinical practice



Dr Ettienne Myburgh – Private Practicing Surgeon, Panorama Hospital, Panorama


14h30

 


The impact of molecular genetics on clinical cardiology



Prof B Mayosi – Dept of Cardiology, University of Cape Town and Grootte Schuur Hospital


15h00


Closure



DAY 2 OPTION B: 19 September 2009, Faculty of Health Sciences, Teaching Block, 4thFloor, Lecture Room K4053B, University of Stellenbosch, Tygerberg



8h30


Registration



9h00



A combined approach of service delivery and research in breast cancer genetics

 

 

Dr Maritha Kotze – Dept of Pathology, University of Stellenbosch, Tygerberg & Gknowmix



9h45



The impact of transcriptional profiling on clinical oncology: A case study presentation of breast cancer patients

 

Dr Rika Pienaar – GVI Oncology, Panorama Hospital, Panorama

 



10h15



Reimbursement of breast cancer genetic tests by medical aids


 

Prof Manie de Klerk – Qualsa Managed Care, Cape Town


11h00


Break



11h15



The 70-gene MammaPrint breast cancer service


 

Ronald van Klaveren – Agendia, The Netherlands



11h45



Application of MammaPrint in South African breast cancer patients

 

Prof J Apffelstaedt– Dept of Surgery, University of Stellenbosch, Tygerberg

 



12h15



A global view of breast cancer genetic testing

 

Elaine Warburton – QuantuMDx, London, UK.



12h45



Breast cancer genetic counselling

 

Frieda Loubser – Registered genetic counsellor, University of Cape Town and NHLS


13h30


Lunch

 



OPTION C: 23 September 2009, St Augustine’s Hospital, 107 Chelmsford Road, Durban


8h30


Registration



9h00




Introduction: Research Innovation

 

Dr Tony Bunn – Innovation Centre, Medical Research Council, Tygerberg




9h30





Advances in individualisation of therapeutic intent in breast cancer treatment

 


Dr L Heslop – Durban Oncology, Durban

 




10h15





Ethics and genetics: Development of a web-based genetic service delivery system

 


Dr MJ Kotze – Department of Pathology, University of Stellenbosch and Gknowmix

 


11h00


Break




11h15





A global view of breast cancer genetic testing

 


Elaine Warburton – QuantuMDx, London, UK

 




11h45





Inclusion of ER, PR, HER2/neu and BRCA gene expression profiling as part of the 70-gene MammaPrint breast cancer service

 


Ronald van Klaveren – Agendia, The Netherlands

 




12h30




Pocket pathology: Development of a lab-on-a-chip genetics system with applications to cardiology and cancer diagnostics


 


Jonathan O’Halloran – QuantuMDx Technologies, University of Stellenbosch, Tygerberg

 


13h00


Lunch break



13h30




Breast cancer genetic testing service: BRCA1 and BRCA2 mutation detection

 

Natalie Williams – Registered Medical Scientist, Molecular Diagnostic Services, Durban




14h00





Application of a pathology supported nutrigenetics model in clinical practice

 


Dr H Badenhorst – Medical Advisor, Molecular Diagnostic Services, Durban

 



14h30




Application of nutritional genetics in dietetic practice

 

Sarita Banitz – Registered dietician, Pretoria



15h00



Closure

 

Dr D York – Molecular Diagnostic Services, Durban

 

This Applied Genetics Workshop aimed to improve genetic knowledge transfer between scientists, healthcare practitioners and the public. Public awareness campaigns focusing on Heart Health and Breast Cancer during the months of September and October, respectively, always spark interest in genetic risk factors. Knowledgeable clinicians play a key role in matching disease diagnosis and therapeutic design with the pathology and genetic profile of patients.

As the number of genetic tests used in disease diagnosis and intervention programs increase, the gap between genome research and clinical practice has widened. Pathology is ideally suited to provide a bridge between molecular genetics and clinical medicine. This concept termed pathology supported genetic testingTM was introduced by the Department of Pathology at

Stellenbosch University in April 2008, based on an integrated service and research approach. It provides the science behind the service offered via the Gknowmix.com genetic knowledge integration system, developed over the past two years with financial support from the Industrial Development Corporation of South Africa

Our Genetic Care Centre (www.genecare.biz) provides the infrastructure for seamless integration of the following professional activities involved in genetic testing service delivery:

  • Clinicians: Patient consultation, clinical assessment and intervention
  • Genetic counsellors: Genetic risk assessment and family counselling
  • Laboratories: Pathology, molecular genetic testing and evaluation
  • Medical scientists: Data integration, interpretation and reporting

New insights gained from the GeneTalk Workshop will guide the way during roll-out of this new genetics model in clinical practice. A synopsis of the workshop theme was provided in the workshop handout, with particular focus on the role of genetics in chronic diseases such as cardiovascular disease and lifestyle-related cancers, particularly breast cancer that may be inherited or acquired due to genetic abnormalities.


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