Genetic testing we should all have done from 1 day old

I got my results back from the low penetrant genetic mutation testing I had done. I had a general panel tested that show cancer, cardio vascular, obesity, and diabetes risk.

Low penetrant 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 diseases the mutations could potentially cause if we make the necessary lifestyle changes.

High penetrant mutations are mutations that show there is a very good, unavoidable chance you will get a certain disease at some point in your life - eg. if you have the BRCA 1 + 2 mutation, there is a very good chance you will get breast cancer.

I knew I did not have BRCA 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:

* If I increase my intake of unhealthy fats and refined carbohydrates in my diet, I have a tendency to blood fat (lipid) level imbalance which could lead to obesity, diabetes or hypothyroidism.

* I have wonky DNA synthesis, repair and methylation, which could contribute to cancer development if my folate intake is low. Although adequate dietary intake remains important, supplementation with high doses of folic acid (synthetic folic acid on it's own/not in a B complex) is not recommended in cancer patients. I need to keep my folate (not folic acid) intake at optimal (more than RDA) levels.

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

* I don't 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 - yeah! - I have the tendency to gain excessive weight and develop hypertension if my level of physical activity is too low (I have always known that I can just look at food and gain weight). 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. Increase fat storage results in increased estrogen production which I want to avoid.

* I have an increased risk of insulin resistance.

* 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 increase omega 3's - I am now using fish oil capsules. I have used flax oil + seeds for the last 5 yrs and my hair analysis shows I am still low on omega 3's so time to try the fish oil.

* I have the glutathione S-transferase (GST) and manganese superoxide dismutase (MnSOD) gene mutation so my body's ability to remove harmful substances and to fight cancer-causing free radicals is reduced, especially if my intake of anti-oxidants is too low. This was a very interesting mutation: the mutation has deleted how my body should detoxify! My body can detoxify but along other more lengthy, energy-expensive pathways. So I should have never eaten pesticides etc, used non-natural/safe cosmetics, drunk alcohol, taken drugs, ingested medication, and on. No wonder my body felt more toxic than the next person after all the breast surgery general anesthetics last year. I always wondered whether my decision not to have the prophylactic chemotherapy was the right one and now I can see it was - for me. I wonder if this is why some people survive chemo and are fine afterwards, while others it takes down because they can not detoxify the chemo as well.

* 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). I have this gene mutation from both parents. I should never have taken the Pill or ingested any zeno-estrogen's. I should have also taken steps from early to ensure my estrogen elimination pathways were kept open. This in combination of the 'can't detoxify' mutation is a strong indicator for breast cancer.

So where does this leave me?

I am glad I did not just leave the genetic testing investigation where my breast surgeon suggested 'well you probably don't have the high penetrant mutations BRCA 1 or 2 as no one in your family has breast cancer so why bother doing genetic testing'. I now know there are high and low penetrant mutations test for.

I am glad I forged forward because I can see from my low penetrant genetic mutations exactly how I got the breast cancer. I wish I had know these results at the age of 1 day old. This is where I would sponsor breast cancer research - prevention.

After my results, Glenn and I agreed to have our daughters, Grace and Lily, tested. I especially wanted to see what their chance of developing breast cancer in their life times is. I won't disclose their results as they don't know them yet. We need to wait for the right time/age to tell them. All I will say is that I am glad I have been so neurotic about limiting their environmental toxins exposure from birth/in my womb.

Will they rebel against their genes if they know their mutations? Will they be grateful that they can take more responsibility for their health and lead a disease preventative lifestyle - knowing where they can break the rules and where not.

We can't change our genes but we can change our lifestyle, diet, exercise amount, etc. to best suit our mutations.

What interests me going forward is how we tailor our lifestyle, diet, exercise type, etc to our unique biochemical makeup? This, I believe, is the medicine of the future.