| Autor: |
Kotze MJ; Department of Pathology, Faculty of Medicine & Health Sciences, University of Stellenbosch, Tygerberg, South Africa. maritha@sun.ac.za., van Velden DP; Department of Pathology, Faculty of Medicine & Health Sciences, University of Stellenbosch, Tygerberg, South Africa., Botha K; Paarl Medical Centre, Paarl, South Africa., Badenhorst CH; Integrated Health, Pretoria, South Africa., Avenant H; Blueprint Health (Pty) Ltd, Cape Town, South Africa., van Rensburg SJ; Department of Pathology, Faculty of Medicine & Health Sciences, University of Stellenbosch, Tygerberg, South Africa., Cronjé FJ; Department of Interdisciplinary Health Sciences, Faculty of Medicine & Health Sciences, University of Stellenbosch, Tygerberg, South Africa. |
| Abstrakt: |
Several chronic, noncommunicable diseases share common genetic risk factors. These include cardiovascular disease and several neurological and psychiatric disorders, as well as some forms of cancer. Clinical compartmentalization and the challenges of translational research have delayed the implementation of personalized medicine. To overcome these limitations, a pathology-supported genetic testing service has been established to enable the incorporation of genomics into a universally accepted body of knowledge. An online questionnaire is used to obtain information on personal and family medical conditions, medication use/side effects, lifestyle factors and pathology test results relevant to the genetic analysis performed. Validation studies from multidisciplinary sources and the expanding Gknowmix™ database are applied to determine whether the clinical characteristics of the patient match the test results. With this approach, a set of common functional polymorphisms at critical control points within key biological pathways can be studied to determine current or future clinical relevance across diagnostic boundaries. |
