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  • Deborah Smart

Thinking about Gene testing? Look before you leap...

Updated: Jan 28


It feels like everyone is getting their genes tested these days. Drs are using them more and more to screen for disease risk, psychiatrists are using them for determining drugs of choice, and your next door neighbour wanted to find out his ancestry!

There are hundreds of gene tests available in Australia, from around 50 different labs. This means genetic testing is getting cheaper. The top quality test I utilise most often used to cost over $400 for 100 genes, now it provides a look at 160 genes for just over $350!

So what are the benefits of DNA testing and which test should you choose?

What are the benefits?

Nutrigenomic testing provides a general look at between 50-160 gene variations (SNPs or polymorphisms) that affect dietary and lifestyle choices, common diet-related disease risks (diabetes, alzheimers, heart disease, auto-immune disease, celiac disease, lactose intolerance) and nutritional deficiencies.

Test quality

First, it's important to understand the differences in quality of testing methods. Ancestry tests generally do not use the same level of technological accuracy of the health based tests. Some people use ancestry tests like 23 and Me which cannot legally give out health information due to questions around quality and the ethics of information delivery. There are websites available which get around this issue by running the information through an 'app' that processes the raw data and gives a list of health related genes. Having these genes interpretted by a professional is highly recommended, however, as you don't receive a comprehensive health report with these tests. They have also been known to report inaccurate DNA results! If you are going to invest in DNA tests for health related purposes, it is much more advisable to choose tests designed for this purpose and delivered with a full report from a reputable company.

Disease Risk

Genetic disease risk determination is by no means an exact science. There are rarely single genes involved in any genetic disease risk: usually multiple genes are involved in a complex interplay between each other, your diet and general environmental factors. Genes also need to be 'switched on' in order to exert their effect and this is determined primarily by environmental factors such as stress, diet, exercise, and toxin load. All that to say, being a 'carrier' of the APOE4 gene for example (a key alzheimer's risk), does not mean you will certainly get Alzheimer's disease. In fact, knowing this risk can empower you to make conscious life choices that will reduce the likelihood of your genes leading you down the path of neurodegeneration. Knowing your level of celiac risk, cardiovascular disease risk, autoimmune, or diabetes disease risk, can help you to make positive choices to reduce the likelihood of ever suffering from these conditions.

Nutrient status

Our nutritional status is not just a matter of the the foods we eat, but also the genes that govern the way nutrients from those foods are absorbed by the body.

There are hundreds of genetic variations that have an impact on vitamin D metabolism, for example, so most nutrigenomic testing will look at the most significant of these. Knowing that you have significant issues with making vitamin D from sunlight and using it effectively can help you ensure your vitamin D status is as optimal as possible, protecting you from potential associated disease risks such as osteoporosis, depression, and auto-immune disease.

Other genes frequently tested by nutrition-focussed tests include those affecting vitamin A, E, and glutathione status which also impact on your capacity for a healthy immune system and controlled inflammation.

The folate cycle and methylation, key biochemical cycles affecting hormone balance, detoxification pathways, mental health, and gut health are impacted by genes that convert B vitamins such as folate, B12, B6 and B2 into their active form. Knowing these areas of genetic weakness can be invaluable in helping to determine which types of B vitamins or multi vitamin supplements may be beneficial or potentially harmful to you.

Mental Health

One of the areas that I find DNA testing particularly beneficial is that of mental health. Many of my patients appreciate the relief that comes with finding out that their mood issues have a genetic basis and being able to share this information with their family. Nutrigenomic testing, where genes governing neurotransmitter balance are included, can reveal which biochemical pathways are most likely being compromised. Your genes may be the cause of naturally lower serotonin levels, or dopamine and adrenalin levels poorly controlled. You may have a genetic weakness slowing the enzyme that converts glutamate to GABA (the calming neurotransmitter), increasing feelings of anxiety. Supporting these pathways with nutritional medicine may then provide a possible alternative to anti-depressants.


Some psychiatrists are now using specific individual gene testing to determine a patient's potential response to a given medication. Some say this gene specific approach to treatments is the future of modern medicine, but we are unfortunately not there yet...

Meanwhile, supporting genetically compromised nutrition with personalised supplemental and diet therapy has begun to help many people improve their functional nutritional status while battling chronic conditions.

Book an appointment today to discuss your options regarding gene testing and any other functional tests that may help you on your journey to greater wellness, longevity and quality of life.

*All of the tests I use test for MTHFR and associated genes. MTHFR as a single gene test costs around $70 from QML.


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