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Genetic Testing and Nutrigenomics


Dr. Sadak is trained and certified in administering and interpreting the following genetic tests:

DNA Health (sample report)

The DNA Health test is designed to optimise wellbeing and health by personalising lifestyle and diet choices and, where necessary, using supplements tailored to offset any particular nutritional deficit based on specific gene variants. The DNA Health approach assists the healthcare practitioner in establishing the optimal nutrition necessary for good health, longevity and disease risk mitigation.DNA Health tests for 36 gene variants involved in the following biological processes that have been linked to risk for diseases of lifestyle:

  • Lipid metabolism
    • Nutrition and lifestyle factors such as exercise, dietary fats and carbohydrates impact lipid metabolism and lipid levels, which may contribute risk of developing cardiovascular disease (CVD). However, these influences are potentially modulated by gene variations that play a role in lipid metabolism.

      Single-gene defects affect a relatively small subset (5-10%) of patients at high risk of premature coronary heart disease, while multiple gene variations with minor effects contribute to CVD risk in the vast majority of individuals in the general population. Such polygenic effects depend predominantly on environmental influences.

      Most premature cardiovascular deaths can be prevented if action is taken to avoid or modify external exposures that may cause a genetic predisposition to become clinically relevant.

      The lipid metabolism panel analyses SNPs on the following genes:

      • CETP
      • LPL
      • APOC3
      • APOE
  • Bone Health & risk for osteoporosis
    • Osteoporosis is a complex disease characterized by decreased bone mass, deterioration of bone tissue and increased risk of fractures. Family and twin studies have established a strong genetic contribution to the aetiology of osteoporosis, and 60-70% of the variability in bone mineral mass or bone mineral density (BMD) can be accounted for by genetic variation and variations in diet. The bone health panel analyses SNPs on the following genes:
    • VDR
    • COL1A1
  • Methylation and risk for cancer
    • B vitamins provide building blocks for growing cells, which are constantly being renewed, and play an important role in many physiological processes. B vitamins also supply some of the chemicals necessary for protecting our genes, so that our DNA doesn’t accumulate damage from the wear and tear in the daily lives of our cells. These vitamins – including folate, vitamins B6 and B12 – help make new DNA for cells that are constantly growing and renewing themselves. Folate is also involved in turning many genes on and off, and also helps repair DNA. The process of DNA repair is called methylation. Although B vitamins are only required in small amounts, they are crucial for methylation and in producing new DNA. SNPs found on genes that regulate B-vitamin associated biochemical pathways may influence and individual’s requirements for these essential nutrients.

      The methylation panel analyses SNPs on the following genes:

      • MTHFR
      • MTR
      • MTRR
      • CBS
      • COMT
  • Inflammation and oxidative stress
    • The biotransformation or detoxification is governed by two main phases. Phase 1 detoxification is known as the ‘activation’ phase, where enzymes activate the substance that needs to be removed, allowing the next phase to proceed. Phase I enzymes must exhibit just the right amount of activity for the detoxification process to be effective. Activated compounds in phase I are potentially harmful.

      The enzymes that take over from phase I are called ‘excretors’ because they catalyze reactions leading to the excretion of toxins from the body. These enzymes bind the chemical compound glutathione to the ‘active’ toxins from phase I, making them water soluble so they can be excreted through sweat or urine. An imbalance between phase 1 and phase 2 detoxification due to the presence of SNPs is associated with increased risk for DNA damage, cancer and other diseases.

      The detoxification panel analyses SNPs on the following genes:

      • CYP1A1
      • GSTM1
      • GSTT1
      • GSTP1
      • NQO1

Free radicals are a normal by-product of the body’s energy-generating biochemical processes. They are highly reactive with other molecules, and can damage DNA, proteins and cellular membranes. Anti-oxidants are free radical scavengers that interact with the free radical to ensure it is no longer a reactive molecule.

Anti-oxidants are found naturally in the body in the form of enzymes, but can also be consumed in a wide variety of foods, especially vegetables and fruits. Increased risk of oxidative damage can occur in the presence of certain SNPs and in combination with an unhealthy lifestyle.

The oxidative stress panel analyses SNPs on the following genes:

  • SOD2
  • eNOS
  • Detoxification
    • The biotransformation or detoxification is governed by two main phases. Phase 1 detoxification is known as the ‘activation’ phase, where enzymes activate the substance that needs to be removed, allowing the next phase to proceed. Phase I enzymes must exhibit just the right amount of activity for the detoxification process to be effective. Activated compounds in phase I are potentially harmful.

      The enzymes that take over from phase I are called ‘excretors’ because they catalyze reactions leading to the excretion of toxins from the body. These enzymes bind the chemical compound glutathione to the ‘active’ toxins from phase I, making them water soluble so they can be excreted through sweat or urine. An imbalance between phase 1 and phase 2 detoxification due to the presence of SNPs is associated with increased risk for DNA damage, cancer and other diseases.

      The detoxification panel analyses SNPs on the following genes:

      • CYP1A1
      • GSTM1
      • GSTT1
      • GSTP1
      • NQO1
  • Insulin Sensitivity and risk for diabetes
    • Insulin is a hormone that stimulates the uptake of glucose from the diet into the blood. Those with lowered sensitivity to insulin have a limited ability to respond to the hormone’s action. The scientific literature suggests that insulin insensitivity or resistance may play an important role in some of the most common disorders including, obesity and type 2 diabetes. Clustering of Type 2 Diabetes in certain families’ points to a strong genetic background for the disease, however environmental factors such as obesity and a sedentary lifestyle are usually required to unmask the genes. The insulin sensitivity panel analyses SNPs on the following genes:
      • SLC2A2
      • TCF7L2
      • FTO
      • PPARG
  • Food Responsiveness
    •  Including Lactose intolerance
    • Caffeine processing
    • Salt sensitivity
    • Blood pressure
    • Iron overload disorders
    • Particular nutrients and certain food components in different foodstuffs can affect individuals in different ways. With new research coming to light in this area, specific genes can be tested to give more insight to how an individual might respond to a particular food component. The areas of food responsiveness covered in this panel include: Lactose intolerance, Polyunsaturated Fat (PUFA) metabolism, caffeine metabolism and salt sensitivity and blood pressure, and iron overload.

      The food responsiveness panel analyses SNPs on the following genes:

    • FADS1
    • MCM6
    • CYP1A2
    • ACE
    • AGT

DNA Diet (sample report)

DNA Diet is designed to assist the healthcare practitioner in the design of a personalised weight management plan based on individual genetic differences.DNA Diet also provides additional insight into how each individual reacts to carbohydrates, saturated fats and intensity of exercise, allowing further personalization of your eating plan to suit your needs. DNA Diet tests a number of well-researched gene variations that impact metabolism, absorption and storage of fats and carbohydrates, as well as eating behaviour. We have analysed these SNPs to understand how an individual’s genetic profile will impact their response to what we believe to be the three most effective healthy eating plans. i.e. Low fat, Mediterranean, and Low Carbohydrate. Research suggests that individuals do respond differently to different food combinations and no ONE way of eating is right for everyone.

80% of breast cancer occurs in women with no family history. Oestrogen gene testing may help you lessen your risk. Research has shown that an increased lifetime exposure to oestrogen is a strong risk factor in the development of breast cancer. DNA Oestrogen tests for gene variants that have been shown to have an impact on how oestrogen is processed in your body and if the processing of oestrogen and related compounds is efficient and healthy. Oestrogen affects the function of a number of target tissues. Guiding the personalisation of diet, hormone and nutritional supplement recommendations, based on the insight gained from the DNA Oestrogen test, is of benefit to men and women who suffer from numerous oestrogen-dominant conditions. DNA Oestrogen reports on the following areas:

  • Variations in key genes involved in metabolizing oestrogen and related compounds
  • Intervention strategies for carriers of high-risk genetic variations
  • Personal risk factors associated with HRT, Oral contraceptives, bio-identical supplementation and in vitro fertilization

 

DNA Sport examines various biological areas that impact training responsiveness and sporting performance. These include soft tissue remodeling, inflammation, blood flow and respiration, energy production and fuel metabolism.

Athletic success results firstly from personalising a training strategy that optimises your genetic potential, and secondly choosing the right lifestyle, nutrition and environmental interactions to optimally express your inherited genes.

DNA Sport reports on the following areas:

  • structural integrity of soft tissues
  • inflammation & oxidative stress
  • blood flow & respiration
  • energy during exercise
  • fuel during exercise
  • caffeine metabolism
  • muscle and bone composition
  • aerobic capacity
  • power/strength potential

Knowledge of variations in genes involved in these biological areas can be used to personalise a training program in order to gain as much as possible from sessions by exploiting potential advantages, as well as to identify weaknesses that need to be worked on. This insight can also be used to make appropriate training and nutrition choices in an attempt to prevent injury as well as optimise recovery in order to perform at one’s best.

Genetics Basics

Genes (http://www.dnalife.healthcare/genetics-in-practice/)

Genes are made up of DNA (deoxyribonucleic acid) and are the template to make proteins. We have two copies of each gene, one inherited from each parent. Human DNA consists of over 3 billion base pairs, 99% of which are identical between individuals. The remaining 1% contains small variations known as SNPs (single nucleotide polymorphisms).

 A SNP (single nucleotide polymorphism) is a genetic variation that results in a single base change in the DNA sequence between two individuals.

SNPs can have a profound effect on the functioning of the genes in which they are found. This in turn affects the biological pathway in which the gene is active, affecting metabolic functions that are important for maintaining a state of health.
Knowledge of these SNPs offers a powerful health advantage, enabling the trained healthcare practitioner to prescribe precise lifestyle and nutritional recommendations aimed at compensating for the genetic variants.

A criterion for inclusion of a specific SNP in one of our tests is that there must be an intervention which has been proven to modify the effect of the SNPs that we identify.

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