Dear Patient / Client
This information will guide you to register for your Wellness GeneScreen and test report.
By now, you would have received a saliva/swab collection kit or can request a kit if you decide to proceed with genetic testing. Alternatively, blood can be drawn in an EDTA tube (3-5 ml in a purple top tube) by your doctor or at your local pathology laboratory.
Please request an extra blood sample (the purple top tube) when blood is drawn for cholesterol or other relevant pathology tests needed as part of this assessment (see below) to determine whether a genetic risk factor is “switched on” or not. The Gknowmix team will arrange the sample pick-up.
Information included in the Gknowmix Database – developed since 2007 using a novel Pathology Supported Genetic Testing (PSGTTM) concept – provides the scientific basis for this genetic service. Please feel free to read more about this data integration system at https://www.gknowmix.com.
The online testregistration process is VERY easy but VERY important:
You will be prompted to answer certain questions regarding your own and your family’s medical history and realities. Please be advised that it is very IMPORTANT to complete the online clinical and lifestyle form with the necessary care and detail to ensure that you receive a professional report with the necessary feedback. If you are not sure about your family medical history or conditions, please take the time and effort to find out from family members.
Please feel free to email firstname.lastname@example.org before, during and after the genetic testing process to discuss your health concerns and expectations of the test results. Consideration should also be given to information that may be revealed through the test that you may not want to know at this stage. To benefit from future research discoveries, we encourage you to participate in a health outcomes research project (see details below). Such participation will enable ongoing exchange of information relevant to your risk profile, online reporting of drug side effects and feedback related to the success/failure of the intervention strategy to be recommended in your report. Alternatively, you can choose to have your DNA destroyed directly after completion of this analysis.
Registration is online and we can assure you of all the necessary security measures to protect your personal and medical information.
A printed questionnaire can also be completed for inclusion with the saliva or blood sample to be transported to the laboratory if you experience problems with the online submission.
IMPORTANT CONSIDERATIONS BEFORE TESTING
The Wellness GeneScreen is an extension of the genetic test for cardiovascular disease (CVD) that includes multiple mutations involved in many chronic diseases that share the same genes or metabolic pathways. Please let us know if you prefer not to know about certain risks that may be revealed by the genetic test as indicated in the examples below:
- High cholesterol levels, smoking, diabetes, hypertension and obesity known to be associated with heart disease also increase the risk of Alzheimer’s disease. Although a healthy lifestyle would reduce the risk of these conditions, there is no guarantee that avoidance of known environmental triggers documented as part of this analysis (and highlighted in the report) will prevent Alzheimer’s disease in genetically predisposed individuals. Since it has been suggested that a multi-level treatment approach may be most effective (Wollen KA, Altern Med Rev 2010; 15: 223-244), all dysfunctions detected need to be targeted simultaneously to optimize cell function.
- High homocysteine levels is a marker of folate and vitamin B12 deficiency known to be associated with various medical conditions ranging from vascular disease and obesity to cancer, depression and birth defects to name a few. Detection of a genetic contribution to this metabolic imbalance and possible methylation pathway abnormality justify increased intake of B-vitamins including folic acid above the recommended daily dose to restore enzyme activity to normal.
- Abnormal blood clotting due to inheritance of genetic risk factors that may be triggered by smoking, obesity, oral contraceptives, hormone therapy or immobility during long-distance travel or surgery not only increases the risk of deep vein thrombosis and pulmonary embolus, but may also lead to pregnancy complications such as repeated miscarriage or birth defects if the necessary precautions are not taken.
- High ferritin levels are associated with inflammation and CVD, especially if cholesterol levels are also high. It may also be an indication of iron overload because of insulin resistance or an inherited tendency for over-absorption of iron from the diet. Early symptoms of hereditary haemochromatosis (HH) such as chronic fatigue can easily be mistaken for iron deficiency. Haemochromatosis can cause heart failure, arthritis, infertility, impotence, porphyria, liver cancer and many other chronic disorders that can be prevented by blood donation before irreversible organ damage occurs. The genetic test can help to distinguish HH from the dysmetabolic iron overload syndrome frequently seen in patients with non-alcoholic fatty liver disease (NAFLD), the hepatic manifestation of the metabolic syndrome
In addition to the above analysis focused on the diagnosis of treatable CVD subtypes including familial hypercholesterolaemia (FH), venous thrombosis, and hereditary haemochromatosis (HH) considered a preventable from of heart disease / cardiomyopathy, you are invited to enter into the research arm of this service at no additional cost. Your report will be provided in 3 parts that includes a DNA-Lifestyle Risk Reduction Plan meant to monitor the effectiveness or failure of the PSGTTM healthcare approach. We may contact you 1-2 times a year but encourage you to rather keep us informed of a change in your health status or contact details (which you can change yourself online using a secure password).
How will you benefit from the research project linked to this genetic service?
If you agree to the use of your information for research purposes the genetic analysis could be extended to include a more detailed analysis of potentially harmful gene-environment interactions. This may not only be relevant to your current health status but may also influence future prescription of medications relevant to your risk profile or certain lifestyle choices. Drug failure and side effects that may be lethal are a major cause of hospital admissions. Therefore, the research component of this genetic service focuses on the incorporation of two emerging sciences into clinical practice, (and eventually whole genome clinical sequencing where indicated and additionally approved):
- Nutrigenomics is the study of gene-diet interaction used in this analysis towards the optimisation of weight management and adjustment of your diet and lifestyle in relation to your genes and clinical risk profile. Genes implicated in
obesity, chronic inflammation, depression and sporadic cancer are included in the wellness research panel to guide lifestyle changes from the genetic background
- Pharmacogenomicsis the study of gene-drug interaction used in this analysis towards the optimisation of your treatment plan and to minimize the possibility of drug failure and side effects that may be toxic. These include commonly prescribed medications such as anti-depressants, codeine, tamoxifen, hormone replacement therapy and cholesterol-lowering medication.
The above information is provided in a comprehensive report provided in three parts based on the outcome of a questionnaire-based survey completed by nearly 200 healthcare practitioners in South Africa.
Receiving your report
After your sample arrived at the laboratory, it will take about 3-6 weeks before your report will be ready.
Please use this time to communicate your expectations and any concerns you may have by emailing email@example.com or phone Lujane Nutt any time at 0716092920. Lujane will arrange for telephonic consultation with a genetic counsellor or clinician knowledgeable in the field of genetics. We also recommend that you download the free E-book on genetics from the Gknowmix website, as it will help you to ask questions that may be relevant to your own test results.
The report is prepared in three parts:
1) A table listing the gene variations tested and the results obtained, together with the outcome of the questionnaire-based medical and lifestyle assessment
2) Detailed description of the meaning of each genetic variation detected in your DNA for counselling purposes
3) Action plan based on the clinical, lifestyle and genetic risk factors identified in relation to available blood biochemistry parameters to determine gene expression and response to treatment.
You can implement Part 3 of the report in consultation with your service provider. Parts 1 and 2 however, may need explanation in consultation with a genetic counsellor or knowledgeable clinician. A new approach in healthcare termed
Pathology supported genetic testing (PSGTTM) is applied using a combination of genetic and blood biochemistry tests to overcome the limitations of each: Pathology tests reflect current risk while DNA tests improve diagnostic reliability and predict future risk or drug failure/side effects with no certain outcome due to (modifiable) environmental influences.
For example, when certain biochemical tests such as cholesterol, homocysteine, glucose and iron levels are abnormal in the presence of a genetic risk factor it may be due to gene-environment interaction and agenetic contribution
may be identified (diagnosis). When the blood / pathology test is normal in the presence of a genetic risk factor it implies a genetic predisposition that may in future lead to the development of disease due to cumulative risk when you enter a high-risk environment (predictive). However, when the pathology test is abnormal or a medical condition exists in the absence of relevant tested genetic risk factors, it means that other genetic and/or environmental risk factors not covered in this assessment are responsible. In such situations an extended mutation analysis or pathology testing may be recommended where appropriate. Such a recommendation is of particular relevance in the presence of a strong family history for the medical condition. Otherwise, the condition may be solely caused by lifestyle or other environmental risk factors, which will be highlighted in the report based on current knowledge. You will now understand why it is very important that you, as part of your clinical profile for inclusion in the report, provide information pertaining to your previous pathology (biochemistry) results, e.g. fasting lipid profile, homocysteine, iron/ferritin and glucose levels. Such information will enable us to determine whether the faulty genes that may be identified are “switched on” or not. If you do not know the levels of your cholesterol and other blood tests relevant to your health status, we encourage you to have these levels determined as soon as possible if approved by your doctor. These values can be added to your clinical profile before your report is generated. A genetic test for a specific set of genes is only performed once in a lifetime and you will benefit most when relevant biochemistry test results are integrated with the genetic test results.
It takes about 3-6 weeks to complete the genetic test and report, which gives sufficient time to have relevant blood tests done at your local pathology laboratory or pharmacy. Regular updating (at least once a year) of your information on the Gknowmix website (e.g. personal medical conditions, cholesterol, weight and diet assessment) will enable the generation of follow-up reports and the assessment of the effectiveness of your intervention plan as provided in your first report. If no improvements are seen according to your set goals, adjustment of your treatment plan may be necessary, considering all known risk factors based on current knowledge. You can let us know at any time if you prefer to withdraw from this combined service and research program, or ask that your DNA be destroyed after the completion of this analysis.
It is important to remember that detection of a genetic variation does not necessarily mean that you have a genetic disease or will develop a genetic disease. The purpose of the combination genetic test is 1) to identify treatable disease subtypes caused by a combination of genetic and environmental factors, 2) to facilitate the prevention of cumulative risk and 3) to formulate an risk reduction plan guided by your genetic background. The test does not include all possible risk factors for chronic diseases or relatively rare genetic diseases. Therefore, it is important to link this genetic service with ongoing studies to enable the research team to improve the tests and interpretation of results as new discoveries and actionable information become available that may benefit you.