8th Applied Genetics Workshop

GeneTalk 2013

All medical conditions, disease susceptibilities and drug responses are caused, regulated or influenced by genes. Based on this knowledge, the Department of Pathology at the Tygerberg Academic Hospital introduced pathology-supported genetic testing in 2008, using an integrated service and research approach [please visit This Link to Youtube for more information]. Past accomplishments, present challenges and future opportunities provided the landscape for discussion at the 2013 GeneTalk workshop:

GeneTalk8th Applied Genetics Workshop

DATE: 25 October 2013 TIME: 8h30-15h00

VENUE: Faculty of Medicine and Health Sciences, Clinical Building, 1st Floor , JN de Villiers Boardroom
, Francie van Zijl Drive, University of Stellenbosch, Tygerberg, CAPE TOWN




Personalised medicine in the African context

Prof Rajiv Erasmus
– Head: Dept of Pathology, University of Stellenbosch


Bridging the knowledge gap from bench to bedside

Jakobus Pretorius
– Medical Student, University of Stellenbosch


From BRCA mutation detection in familial breast cancer to multi-gene testing of FFPE specimens: An update

Dr Ettienne Myburgh
– Surgeon, Panorama Hospital and University of Stellenbosch


Development process of a coverage policy: The MammaPrint example

Dr Zandile Dunn
Senior Manager: Stakeholders relations, Metropolitan Health and Chairperson of the Medical Advisor’s Group, Cape Town




Evidence from ancient DNA in the nature vs. nurture debate

Dr Ruhan Slabbert
– Medical scientist, CAF, University of Stellenbosch


Sports injuries and the genomics era

Dr Alison September
, Medical Scientist, University of Cape Town


Genetic counselling for breast cancer with a little help from Angelina Jolie (Ethics talk)

Julie Malan
– Genetic counselor, Familial Breast Cancer Center, Pretoria




Significance of biochemical markers and vascular risk factors in multiple sclerosis (MS)

Prof Susan van Rensburg
– Medical Scientist, NHLS and University of Stellenbosch


Effect of a single nucleotide polymorphism in the FTO (rs
) gene and diet on homocysteine levels in MS patients

William Davis
– MSc student,
University of Stellenbosch


Effect of a single nucleotide polymorphism in the TMPRSS6 (rs855791) gene on serum iron status in MS patients

Moremi – MSc student, University of Stellenbosch


Exome sequencing: Solving the mystery of iron deficiency in MS

Mahjoubeh Jalali 
– PhD student, University of the Western Cape, Bellville


Iron deficiency in children with MS: A new demyelinating disease subtype?

Dr Ronald van Toorn 
– Neurologist, Tygerberg Hospital, Parow


Genomic Research Advancing Clinical Excellence Initiative

Dr Frans Cronje
– Dept Interdisciplinary Medicine, University of Stellenbosch



Prof Maritha Kotze
Medical Scientist, University of Stellenbosch

CPD accreditation: 2 Ethics and 5 Clinical point


The 2012 GeneTalk Workshop was a great success with nearly 100 healthcare professionals attending. Thanks to all the speakers and panel members for playing such an important part in the clear message that was conveyed about the benefits of pathology supported genetic testing (PSGT). We are so proud of our students Kathy Grant and Kobus Pretorius who presented the results of their research in such a way that everyone could see they know what they are talking about. Their hard work will certainly not be “lost in translation” as Mardelle Schoeman pointed out in her ethics talk which was really outstanding.

Dr Junaid Gamaldien’s talk was spectacular. There is no better way to describe the way he explained the application of clinical whole genome/exome sequencing. Prof Susan van Rensburg furthermore clearly explained the importance of high homocysteine levels so everyone who attended can now understand the serious implications of a disturbance in the methylation pathway.

Everyone enjoyed listening to Dr Paul de Flamingh and it was clear that no matter how well we try to explain the test results in the report – the importance of a knowledgeable healthcare professional taking care of the implementation of the results is vital to ensure a meaningful genetic testing experience. And depending on the test outcome post-test feedback may need to be stretched out over several consultations. In future we will select at least 1-2 such case studies for presentation by different doctors at our workshops.

There is a lot of excitement around the Sport Injury Genescreen presented in a highly professional way by Prof Malcolm Collins. A very high standard was set and when he said that the test must be made available sooner rather than later it was well accepted. If anyone who attended the talk have any suggestions for him and Dr Alison September of UCT – while coding of the test information into the Gknowmix system is being finalised over the next few weeks – please let us know. Alison helped Kobus with his talk that received so many compliments because genetics could now be understood for the first time by several of the attendants. Prof Johann Schneider very elegantly presented the Pathology Supported Genetic Testing concept which he supported from the start and set the stage for an memorable event.

Dr Martin de Villiers provided a funder’s perspective of personalised medicine, noting that oncology has paved the way. Hopefully genetic testing for other chronic / non-communicable diseases will follow soon. Prof Manie de Klerk invited us during the last session to discuss the proposal he prepared in this respect for medical aids. It can be expected that this will follow the same route as payment for MammaPrint that he got approved in 2009!

The last talk by Dr Frans Cronje was the cherry on the cake! He defined three indicators for considering genetic testing: family history, abnormal pathology / biochemistry tests and when certain drugs are being prescribed. It will now be much simpler for doctors to decide whether to refer a patient for a test or genetic counselling. One of the GPs who attended suggested that the GRACE Foundation (Genomic Research Advancing Clinical Excellence) should be established as an outcome of this workshop and we will certainly look into this possibility. Dr Cronje’s talk is now available on YouTube BY PROF MARITHA KOTZE – my presentation that followed after the explanation of Prof Schneider what PSGT is about can be accessed at This Link.


“Dear Maritha – When you joined us a few years ago, I never expected that the venture would be so successful in such little time! You did a superb job under often challenging circumstances. The wide recognition and support that you enjoy from clinicians, scientists, geneticists, genetic counsellors, health funding authorities and researchers from the public and private sectors respectively, confirm that you are a leading role-player in the establishment of a new era in modern health science in our beloved country. The growing number of internationally acclaimed research publications, the expansion of research projects, the increasing number of postgraduate students (M and PhD) and the successful attraction of research funding clearly demonstrate that the integration of genetics, pathology and clinical medicine is indeed a successful strategy to promote clinical care of patients, training and translational research. The successful workshop on Friday was another highlight, and I express my appreciation and congratulations to your and all the speakers for an excellent programme. Thank you very much indeed.” FROM PROF JOHANN SCHNEIDER (Speaker – Head of the Dept of Patholgy, University of Stellenbosch)

“I am very proud and at the same time humbled to have been part of this year’s GeneTalk. The number of participants and the quality of the talks that I was able to see (can’t wait to see the DVD) was inspirational and invigorating – I am amped! As a community, we have a real opportunity to become leaders in this burgeoning new era of clinical genomics – instead of being part of the “let’s wait and see crowd”. Thanks Gknowmix and especially Maritha for the opportunity.” BY DR JUNAID GAMALDIEN (Speaker – Bioinformaticist, University of the Western Cape)

“It was a huge pleasure to be part of this great day. I hope my little contribution helped to illustrate the value that PSGT will bring to clinical medicine. I also have to congratulate you on a well designed as well as executed academic meeting! Even I as a plain clinical person could follow most of the presentations! The DVD will help to refresh and digest more of the rest!! I would like to say again that I truly believe that the face of medicine is going to change dramatically in the next decade or so. We are going to move away from the out-dated format of curative medicine to preventative medicine with genetics and stem cell technology playing major roles. Apart from any other considerations the plain economics of delivering medical services to all people makes this a no-brainer (as the young people like to say)! Once again, congratulations! I will keep you posted on the progress of my patient presented as a case study”. BY DR PAUL DE FLAMINGH (Speaker – Private Practicing Gynaecologist)

“It was indeed a great success and you have been hugely gracious in giving us all the credit. I am sure all will agree that your vision, focus, extremely hard work and total belief in PSGT is the catalyst and drive behind the sure and steady growth of this new paradigm in medicine – one that will definitely bring about the “personalised medicine” dream that was hoped for when Collins and Venter cracked the genome. So on behalf of us all a big THANK YOU Maritha.” FROM PROF TONY BUNN (Speaker – Head of the Innovation Centre, South African Medical Research Council).

“I agree with everything Tony has said! It is your vision and passion from the days of GeneCare already that has always inspired me..thank you for always being so passionate about everything you do. It is going to be great working with you. I am looking forward to the year ahead.” FROM DR ALISON SEPTEMBER (Co-Speaker – Exercise Science and Sports Medicine Institute, Medical Research Council and University of Cape Town)

“Thank you for the e-mail and great summary of presenters/presentations of Friday’s hugely successful workshop. Your vision – your leadership – and passion for what you are doing is so unique and a rare combination seldom found amongst scientists. Your unbelievable work ethic and ‘never ever give up attitude’ is a lesson to us all. Thank you for leading – (we are glad to follow!) – as we know the way you are heading is the future. The 25th October 2013 is diarized!” FROM DR HEIN BADENHORT (Expert Panel Member – Private Practicing Medical Doctor, Gauteng)

“Very well done on an excellent meeting. They get better every year. You deserved all the accolades you and your students got yesterday. If any GP’s would like to chat to me if they are not sure about using Gknowmix in their practices, I am available to help with the clinical side of things.” FROM DR HELEN MUIR (Expert Panel Member – Private Practicing Medical Doctor, Cape Town)“

Congratulations on a very informative workshop! We all know a lot more now!” FROM DR LOUISE LINDENBERG (Delegate – Private Practicing Medical Doctor, Cape Town)

“I would also like to congratulate you on a very successful workshop. I think you can be very satisfied and proud! Once the dust has settled, I would like to discuss your Familial Hypercholesterolaemia work and how you think one can take it forward and perhaps also what role we could play in this. As a clinical genetics group, we feel this is something that should be a priority, as there must be so many people out there with FH who are unaware that they have the condition. We feel that you are probably the person with the most insight into why this is the case and we would therefore like to talk to you about how we could approach the situation” FROM MARDELLE SCHOEMAN (Speaker – Genetic Counsellor, University of Stellenbosch and Tygerberg Hospital, Cape Town).

“Thank you so much for your tireless efforts and input in the field of genetics. Your passion and enthusiasm is contagious!

I feel so blessed that our paths have crossed, your generous heart for people and God given desire to help them is making such a powerful impact in developing genetic research and clinical tools. It is an honour to learn from you and discover new ways of guiding clients with preventative health care and appropriate treatment of gene-related conditions. Gknowmix’s approach of adding biochemistry as well as diet and lifestyle information to the genetic interpretation (of the wellness screen) is very useful, especially in clients who are already presenting with lifestyle disease. Thank you for a great conference, I look forward to grow in knowledge with you and your team in this fascinating field to truly change the face of the health profession of the future, to be preventative patient focussed health-care.” FROM DALENE ROTTIER-WILSON (Delegate – Private Practicing Registered Dietician, Pretoria & Johannesburg)

“Congratulations on the successful day we had on Friday! I think Prof Schneider said it beautifully in his email – you really are such an asset to the university and of course to us, your students. There is no stopping the genetic wave! It’s the way medicine is going, everyone there was saying it. I’ve followed the e-mails about the misunderstanding about MammaPrint – I thought the slides were clear but it shows how easily things can be lost in translation!! We are experiencing a lot of interest in the test and it is important to get the correct information out there.” FROM KATHLEEN GRANT (Speaker – PhD student, Cape Peninsula University of Technology).

“The workshop on Friday was a huge success. Thank you for the hard work and enthusiasm. It is an inspiration to all of us. You deserve all the compliments. It is wonderful that after many years of hard work you are acknowledged for this. You are really an example to all of us. I would like to become involved with any Gkwnmix project or patient where you may need a dietician. It is fantastic work that you do.” FROM
DAVONNE OLIVIER (Delegate – Private Practicing Registered Dietician).

Speakers at GeneTalk

Genetalk 26 Oct 2011

Students with Professor Maritha Kotze and co-supervisor Dieter Geiger