I'm going to be honest - I started writing this blog about 18 months ago after sending myself of for some genetic tests, but never finished it because of , well - life! However the importance and relevance of finishing it presented itself last week after doing a family members genetics as well.
So first things first - why did we decide to run admittedly expensive genetic testing? (Approx $400 - $450 usually).
For me - it was due to unexplainable high cholesterol levels. I eat a pretty healthy plant based diet, exercise daily, and do all the 'right' things in terms of cholesterol management and whilst there are definitely other causes out there for high cholesterol, I also knew my brother and some other family members have had similar experiences with cholesterol levels being high despite leading a lifestyle that doesn't really explain it.
For my family member - it was also due to cardiovascular risk markers, but this time there was a history of dementia and Alzheimer's in the family and we wanted to be sure that we were on top of what potential risks were lying in wait in the years to come.
The DNA collection is pretty straight forward - a cheek swab from a kit they send out, and then it's just a couple of week's wait for the results.
The report lists over 160 genetic variations and then tells you which genetic SNP's (pronounced 'snips') you have. SNPs in very basic terms is the name for places in the genome where people differ.
It covers genes that are responspible for metabolism, cardiovascular, vitamin absorption, detoxification, celiac disease risk, hormones, neurotransmitters and much more.
(You can read more about their testing here - https://www.smartdna.com.au/genomic-wellness-plus-test/)
The most common genetic variation that people may have heard of is in the MTHFR gene. There are two different ones that get routinely tested - MTHFR 1298A and MTHFR C677t. You can be either homozygous (have variations in both copies of either one of these), be heterozygous (one variation in either one), or compound heterozygous (one variation in each). Faults in these genes affect a pathway called methylation, and how many faulty copies of each you have will determine how much the pathway is affected. But MTHFR is probably a blog all in itself.
Variations in genes don't necessarily mean you will develop a specific disease or condition. For example, someone could have the genetic SNPs for celiac disease but never develop it. Genes are like the loaded gun, but your environment pulls the trigger. By knowing where your genetic variations are, it enables you to take action to hopefully prevent that trigger from ever being pulled. Or if your signs and symptoms combined with a complete picture of your health history shows that it's likely those variations are probably already impacting your health, you can work with that information to improve your health outcomes for the future through diet/lifestyle changes, supplements etc.
Some of the significant findings from my report showed:
- multiple SNP's related to cholesterol which predispose me to elevated LDL's (the bad guys of cholesterol) and low HDL's (the good guys) which explains my blood tests in that regard.
- multiple SNPs, or in some cases, completely missing genes, around my detoxification pathways, so supporting those pathways is going to be really important for me to maintain optimum health in the years to come given the history of cancer throughout my family.
- multiple SNPs related to absorption of Vitamin D which explains the consistently low Vitamin D for me despite being outdoors plenty in the summer months (and possibly explains why my kids have the same issues if they have inherited my genetic profile in that regard)
For my family member the most important finding we made was that they carry the APOE gene. This gene impacts not only cholesterol transport, but also glucose metabolism and can significantly increase the risks of cardiovascular disease and also the risks of Alzheimer's and dementia.
For someone with this gene, intervention with diet and lifestyle modifications will be essential to ensuring they minimise their risks. Regular monitoring of cardiovascular markers will also be important.
Knowing this information has enabled us to take preventative measures now to hopefully improve long term health outcomes.
These reports aren't for everyone - they open up a whole can of worms that can be confronting and cause anxiety in some people, but if you're interested in why you've had 'unexplained' test results, or perhaps wondered why there is such a strong family history of certain conditions in your family - the answer could be in your genes.
The Natural Health & Wellness Clinic
03 5977 7342