Invitation to Talk on Genetic Testing: BrCa Prevention, Best suited Chemo Combo for you, Recurrence prevention

GeneTalk Invitation
30 September and 5 October 2010

You are invited to attend a public lecture on DNA testing on Thursday 30 September 2010 in Johannesburg, or 5 October 2010 in Bellville, Cape Town. The purpose of these events is to answer any questions you may have about genetic testing. Please feel free to also invite your friends and family.



GENETALK in JOHANNESBURG: 30 September 2010, from 15h30-17h00, at the San Souci, Milpark Hospital, Guild Road, Parktown Johannesburg. Prof Maritha Kotze will present a lecture entitled "Change your genetic destiny". You will also be invited to participate in a research project to assess the impact of hereditary factors on health outcomes in individuals subjected to a wellness screen (Ethics approval number N09/08/224). Ronald van Klaveren of Agendia, in the Netherlands, will provide a short summary on the latest research findings applied in gene profiling for cancer treatment.



GENETALK in CAPE TOWN: 5 October 2010, from 9h30-12h00, at the Van der Horst Building, Room 201, Stellenbosch Business School, Bellville, Cape Town. Prof Justus Apffelstaedt of the Tygerberg Hospital Breast Cancer Clinic will present a lecture on the use of the MammaPrint test for chemotherapy selection. Thereafter further information will be provided on research findings related to the effect of genetic variation on the metabolism of drugs used in cancer prevention like Tamoxifen, hormone replacement therapy (HRT) and food substances - such as caffeine, alcohol and folate - that may modify the (recurrence) risk of breast cancer (including BRCA gene mutation carriers) and other chronic diseases of lifestyle.

R.S.V.P. Lyndall at 021 938 9478 or Lujane at 083 3843 085 or email maritha@gmail.com.


GeneTalk Newsletter
Issue 5

The need has been identified for better communication between scientists, healthcare practitioners and the public. GeneTalk aims to increase public awareness of the role genetics plays in health and disease.

In this issue of the Newsletter we would like to announce the date for the October 2010 GeneTalk events. Feedback is also given on the progress made over the past year in bringing molecular genetics into clinical practice.

Forthcoming CPD event: 5th Applied Genetics Workshop (for healthcare practitioners)

Date & Time: 5 October 2010, from 14h00-20h00 (finger lunch from 13h00-14h00)

Venue: Van der Horst Building, Room 201, Stellenbosch Business School, Bellville, Cape Town

Registration fee: R 250.00 per person. Free attendance offered to registered healthcare practitioners who complete a 3-page research questionnaire to be provided after registration.

Public lectures: Breast Cancer Awareness

Public lectures (no cost) will be presented by Prof Maritha Kotze in Johannesburg and Prof Justus Apffelstaedt in Bellville, Cape Town. At the Cape Town event some of our students and the clinicians involved in breast cancer genetic research and the Wellness Project (discussed below) will present their research aims and preliminary findings in short 15 minute slots. Topics include the impact of genetic variation on the metabolism of drugs used in cancer prevention like Tamoxifen, hormone replacement therapy (HRT) and food substances - such as caffeine, alcohol and folate - that may modify the (recurrence) risk of breast cancer (including BRCA gene mutation carriers) and other chronic diseases of lifestyle. A CANSA trained counsellor, Lujane Nutt, will co-ordinate future research activities to be discussed after the lectures.

Prof Maritha Kotze was invited to present a talk on Breast Cancer Genetics and Well-being at the Vergelegen Medi-Clinic in Somerset-West on the 9th of October 2010.

Wellness Research Project: Developing a practical approach to personalized medicine

Completion of the sequencing of the human genome in 2003 led to the expectation that genomic information would lead to better medical diagnosis and treatment. It was the beginning of an era of personalised medicine, in which treatments would be tailored to an individual's genetic make-up. The discovery that there are far fewer genes in the human genome than was originally estimated, however, challenged our understanding of the genetic basis of health and disease. It became apparent that a one-gene-one-disease association is the exception rather than the rule. We realised that knowledge of the structure of a gene would be incomplete without a deeper understanding of the mechanisms that drive the disease process. And so the journey began to develop a practical approach to personalised medicine by using pathology as the bridge between genetics and clinical practice. Genetic counselling to optimise clinical utility forms an integral component of this new approach in healthcare termed pathology supported genetic testing.

In collaboration with researchers from the Department of Health and Wellness at the Cape University of Technology (CPUT), the Department of Pathology at the Tygerberg Academic Hospital initiated a project to develop a comprehensive gene-based wellness program. This project was prompted by the positive outcome of including an MRC-patented multi-gene test for cardiovascular disease (CVD) as part of a Wellness Program offered by a medical aid in Namibia about two years ago. A registered dietician, Charlotte Thiele, motivated the inclusion of genetic testing as part of their healthcare offering based on clinical experience. The same medical aid has approved further funding for screening of a group of their members who fulfils the clinical selection criteria for genetic testing.

Wellness Day: University of Stellenbosch, Tygerberg Campus

The value of pathology supported genetic testing was made a little clearer on the 28th of July, 2010 during a Wellness Day arranged for the staff of the Faculty of Health Sciences at the Tygerberg Academic Hospital. Dr Heloise Avenant of BluePrint Health, who is registered as a co-investigator in our ethically approved Wellness Project, presented guidance on the use of genetic testing for individuals with lifestyle-related conditions such as high blood pressure, diabetes, heart disease and stroke. Even more poignant was the value highlighted for members with a strong family history as a predictive factor of disease risk. Professor Maritha Kotze was one of the participants with a family history of heart disease. The finding that her Discovery Age exactly matched her real age came as no surprise as knowledge of her genetic status empowers her on a daily basis to minimise potentially harmful gene-environment mismatches. Interested parties can sign up for participation in the research project if they fulfil the clinical selection criteria, by providing a saliva sample that will be used in genetic screening after signing an ethically approved informed consent form.

Completion of the Genetic Knowledge Integration Project: 2007-2010

Insight gained from extensive research performed in the genetically distinct populations of South Africa over the past 20 years, paved the way for development of a computer-based medical device made freely available to clinicians who use genetic testing in their practice. With support from the Support Program for Industry Innovation (SPII) and the Innovation Centre of the Medical Research Council over the past three years, a method has been developed to incorporate clinical, biochemical/pathology, environmental and genetic information in a single test application. Genetic information derived from a panel of genes selected according to their phenotypic effects is correlated with the patient's pathology/biochemical measurements to assess gene expression and/or response to treatment. By using this pathology supported genetic testing approach, the same principles applied in the past for use of high-penetrance mutations in genetic tests, can be extrapolated to low-penetrance genetics. Dissection of complex disorders into treatable subtypes and prevention of cumulative risk are important considerations. We have demonstrated the usefulness of this combinational approach in patients at risk of cardiovascular disease (CVD) and the latest research findings will be presented by Dr Dawie van Velden at a Congress in Italy later this year. Heart disease provides a model to address the lifestyle link in most chronic diseases with a genetic component. It has been estimated that at least 30% of cancers can be prevented by risk-reduction recommendations for healthy body weight, physical activity and diet. Research is underway to determine the clinical utility of combining lifestyle information with breast cancer genetic testing applications performed in a clinical setting.

70-gene MammaPrint gene profile: Medical Aid payment as part of oncology benefits

Oncology is leading the way in personalised medicine, as it is fast becoming the norm for breast cancer patients to have their genetic material tested to select the best treatment option. One test option used to select patients who are most likely to benefit from chemotherapy is the MammaPrint, a comprehensive 70-gene profile and the only FDA-cleared breast cancer recurrence test. Despite the relatively high cost, MammaPrint is reimbursed by an increasing number of medical schemes in South Africa as it can reduce the use of chemotherapy with about one-third. This is due to the efforts of a group of surgeons, oncologists and Prof Manie de Klerk of Qualsa, who developed an algorithm for use of this test in oestrogen-positive breast cancer patients. These guidelines were incorporated into the Gknowmix software program to identify breast cancer patients where MammaPrint is clinically indicated.

The highly accurate MammaPrint test identifies patients with early metastasis risk, who are likely to develop metastases within five years following surgery. Several authoritative studies have shown that chemotherapy particularly reduces early metastasis risk and in planning treatment, the MammaPrint test results provide doctors with a clear rationale to assess the benefit of chemotherapy in addition to other clinical information and pathology tests. The TargetPrint test is added at no additional cost, to provide objective, quantitative information about the expression of the specific tumor-related proteins, ER, PR and Her-2neu, while a new addition called BluePrint classifies tumours into treatment-directed subtypes. DiscoverPrint furthermore measures the expression of the whole genome for all patients enrolled in a research study, to eventually allow the identification of investigational drugs that offer the most benefit for women with certain tumor characteristics. Ongoing research and development commitments continue to augment the ability to accurately predict breast cancer recurrence and sub-typing, and help physicians tailor individual treatment plans to their patients. The goal of the testing laboratory, Agendia, is to provide women with answers to crucial treatment questions, such as how their breast cancer will respond to targeted therapies or various chemotherapy regimens.

Pre-selection of medication that can block the effect of a faulty gene or avoidance of drugs that are unlikely to work due to the genetic make-up of the patient, paves the way for cost-effective, patient-centered care. Savings can however only be realised if action is taken to reduce recurrence risk or prevent the complications of the disease that is predicted based partly on the genetic test results. To simplify this process, the Gknowmix database tool can now assist clinicians with the test selection and service delivery process, and its use has also been linked to ethically approved health outcomes research projects.

Ongoing Research Projects and Education

Participation in the GeneTalk events is a great way to stay up to speed with genomic research. It is also an opportunity to learn and to be educated about how the outcome of research projects can influence healthcare and patient care. It is not an easy task to translate the complexity of the field of genomics into practical clinical applications. Therefore several translational research projects that involve both a service and research component have been initiated as a collaborative effort between the private and public sector.

In a "Call to Action" recently published in the June 2010 issue of the Journal of Clinical Pathology, it was pointed out that the medical profession is lagging behind the technology and business communities in preparing for the application of personalised medicine. As a critical step in leading the change to a new medical model, these authors developed a personalised medicine curriculum that could catalyze the adoption of similar training modules throughout North America. South African universities have not stayed behind in preparing clinicians for the new era of personalised medicine. Prof Maritha Kotze will present lectures to pathology registrars on the topics of Pharmacogenetics and Nutrigenetics on the 11th and 13th of October, respectively, and is actively involved in the training of postgraduate students in these new fields through participation in translational research projects. A web-based distance-learning course that includes certain components of these educational materials and highlights the importance of genetic counselling (by clinicians/genetic counsellors) is also offered to private practicing clinicians with a special interest in Integrative Medicine.

Contact us

For more information please contact Prof Maritha Kotze at 021 9389324 / 0828799108 or email maritha@gknowmix.com or maritha@sun.ac.za.