To know or not to know, that is the question? Genetic testing Part 1

When I talk to anyone about genetics you tend to get one of two responses. First, how fascinating I would love to do that and second I would rather not know. Some people believe that once they know their genetic profile that’s it they will know when they are going to die, in what year and by what disease.

My interest in genetics began with my own health issues in particular my inability to lose weight. It started when the NNA organised a seminar in 2012 on Nutrigenomics – The Genetics of Weight & Fitness. I was the first in the queue to do the test. This company was one of the first in the UK to try and put a diet together for your genetic type. (I shall cover this is part 2 next time)

We now have a number of companies offering genetic testing. Some are also giving us diets to suit our genetic type, other just test the genes and give us the information on our ancestry and predispositions..

23andMe is probably being the most well known (and most controversial). Offering customers individual genomic information – split in a test tube post it to an laboratory and a few weeks later you will receive a report detailing health conditions towards which you may have a genetic predisposition. This could include Parkinson’s, Diabetes, Alzheimers or breast cancer. It also provides ancestry information too together with information on drug responses. There is an overload of information and data which can be confusing.

This is in contrast to the companies like mydnahealth who specialise in Nutrigenomics which is concerned with the effects of our individual genetic variations in response to our diet, exercise and lifestyle all of which can cause genes to be expressed in a positive or negative way. This company is providing a solution with its information in the form of a diet plan and supplementation. (I shall cover this in more detail in part 2).

My test results from 23andMe told me that I am 2.3% Neathderthol which I was a little perturbed about until I read that 2.7% was the norm! I am apparently 95.6% British and Irish (my Irish husband was rather upset this is not split out!) and I have the APOE gene which predisposes me to Alzheimer’s. I also tested my mum and brother and while my mum does not have this particular gene but my brother does. My father actually died of Alzheimer’s disease. Now those of you who do not have this gene may remember back to the newsletter in July where according to Patrick Holford the three causative genes (APP, PSEN1, PSEN2) account for less than 1% of cases. Other Genes predispose but don’t cause and overall the genetics may give you up to 33% change of getting the disease.

Now I know this through my work, I also have access to information and understand how to keep myself and my brain healthy but many people getting these tests done with 23andMe don’t and this is what makes it controversial. Opponents argue for example if the BRCA-related risk assessment for breast or ovarian cancer reports a false positive, it could lead a patient to undergo prophylactic surgery, chemoprevention, intensive screening, or other morbidity-inducing actions, while a false negative could result in a failure to recognise an actual risk that may exist. This gene unlike the Alzheimer’s one discussed before is what we would call high penetration i.e. a high probability of you getting the disease.

To know or not to know that is the question?

So there are certain genes that would be better not to have I seem to have a couple of those myself but does that knowledge empowers me with choice and or stress me out? On the positive side I have another excuse for my absent mindedness now that the “baby brain” excuse is running a bit thin now my kids are 6 and 7 but honestly it has made me stop and think about my brain health. I took Patrick Holford’s advice tested my Homocysteine levels (came back 7 which is OK). So for a time yes this information did niggle at me I am concerned about my brain which I use relentlessly for many hours a day analysing, researching and studying. I also saw my dad die from this cruel and terrible disease so yes it hit a sensitive spot. For me 23andMe as long as the results can be trusted is allowing people to take charge and ownership of your own information and while they may be casualties I am in favour. To be continue