Friday, October 29, 2010


I got my results back from the low penetrance genetic testing I had done.

Low penetrance mutations are mutations that we can turn on or off depending on our lifestyle, diet, environmental pollution exposure, exercise amount, etc - ie. we do have a good chance at preventing the certain disease the mutations could potenially cause if we make the necessary lifestyle changes.

High penetrance mutations are mutations that show there is a very good, unavoidable chance you will get a certin disease at some point in your life - eg. BRAC1 + BRAC2 (breast cancer mutations).

I knew I did not have BRAC 1 or 2 because no one in my family has breast cancer, let alone cancer. But there had to be another reason I got the breast cancer so early with this family history.

My results showed:

I have a tendency to an imbalance of blood fat (lipid) levels if I develop obesity, diabetes or hypothyroidism. This depends on the level of unhealthy fats and refined carbohydrates in my diet.

I have wonky DNA synthesis, repair and methylation, which could contribute to cancer development if folate intake is low. Although adequate dietary intake remains important, supplementation with high doses of folate is not recommended in cancer patients. I need to keep my folate (not folic acid) intake at optimal (not RDA) levels. Folate is largely found in green leafy vegetables and sea vegetables.

I have the potential of raised homocysteine levels if my folate intake is low.

I dont have the tendency to store iron unnecessarily so wont get hereditary haemochromatosis. Regular medical check-ups are recommended because the test does not include all possible risk factors for iron-related disorders.

I have the starvation gene - I have the tendency to gain excessive weight gain and hypertension when my level of physical activity is too low. I need to do vigorous exercise like spinning to burn fat. I need to trick my body into thinking I am running at high speed across the savanna to catch my next meal before my body will let go of my fat.

I have increased risk of insulin resistance. Off to the dietitian tomorrow!

I have the tendency to chronic inflammation and reduced insulin secretion, which increases the risk of type II diabetes, hypertension and obesity when the intake of foods with a high content of antioxidants and omega-3 fatty acids are inadequate. So lots of anti-oxidant rich foods, limit/eliminate toxins that use up anti-oxidants, and fish oil supplements (I have tried flax oil for the last 5 yrs and my hair analysis shows I am still low on omega 3's).

The glutathione S-transferase (GST) and manganese superoxide dismutase (MnSOD) gene variations reduce the body's ability to remove harmful substances and to fight cancer-causing free radicals, especially when the intake of anti-oxidants is too low.
The low-activity catechol-O-methyltransferase (COMT) allele is associated with increased oestrogen levels and cancer risk when oestrogen exposure is increased (e.g. due to obesity or use of hormone replacement therapy in women).
The Detailed Interpretation and Health Guidelines provided in the accompanying report (optional) are based on the integration of the test results with clinical indicators and lifestyle factors. The diet scores are only an estimation of nutrient intake and may need to be further assessed by a registered dietician for implementation.