At the end of last year I bought myself a Xmas present, a 23andMe genetic testing kit to profile my disease risk, traits and ancestry according to my DNA. The technology is based on SNPs and their correlation/association with disease onset, carrier status, traits and ancestry patterns.
Some diseases/ conditions are entirely genetically driven (e.g. Downs syndrome) meaning you can predict fairly confidently whether an individual is likely to develop a disease based on the detection of the underlying genetic abnormality. Most conditions however are not like this. Genetic abnormalities may only contribute only part of a diseases onset. Therefore when these abnormalities are detected only a increase or decrease in probability you will get the disease can be provided. These probabilities are based on a SNP’s correlation with a disease. What about the remaining probability (up to 100%) ? I.e. what else determines whether if I will get disease A? This is determined by exposure to environmental factors throughout your life e.g. diet, exercise, living conditions etc.
Understanding what I have outlined above is at the centre of the media debate about whether the consumer is ready for this kind of genetic testing at the consumer level.
While I was in San Francisco in April and shipped it off my spit to be analysed. A few pics below of the kit and spit .
6 weeks later I received my results online while in Switzerland I think.
However I’ve only recently been diving in to see what it yielded. As it turns out nothing out of the ordinary, which I guess is a good thing.
However there are some interesting facts about Graeme Fielder’s DNA:
DISEASE & DRUGS :
- Caffeine metabolism is slower than normal
- Clopidogrel (anti-platelet drug) response is poorer than normal
- Carrier of mutant allele which leads to the disorder Hemochromatosis, handy to know.
- 2 fold increased risk of developing Psoriasis
- 1.3 fold increased risk of developing lung cancer
- 1.6 fold increased risk of developing Age-related Macular Degeneration
- Reduced risk for developing prostate cancer, melanoma, type 1 diabetes but not by a lot at all
- Brown eyes – no shit!
- Normal odds of developing male pattern baldness – stoked!
- If I was a smoker I am likely to smoke more than usual – lucky I don’t smoke.
- Resistant to norovirus infection
- Muscle performance – ‘likely a sprinter, high muscle endurance’ – their words not mine.
- Breast feeding had a positive influence on my IQ level – cheers mum
- Normal height – ‘Environmental factors’ must have had a massive contribution
Maternal haplotype from SE Asia & Paternal haplotype ancestry from North Europe
While my stimulus to do this test was curiosity mixed in with a bit of geeky fun it has given me more of an insight into the consumer experience. While the benefits are obvious for the testing of disorders, drug responses, allergies with a large genetic contribution >90% it is the ‘the other stuff’ i.e. the phenotypes with a large environmental contribution, that is the area of debate. The cool thing that 23andMe do is state the genetic contribution of a disease based on scientific data (something I think is just as important as the result itself). For example psoriasis is 66-80% where as lung cancer is 8-14%. For psoriasis this means that ‘genes contribute more to individual differences in risk of psoriasis than environmental factors do’ and the reverse for lung cancer. ‘Known environmental risk factors for psoriasis include stress, obesity, smoking, and the presence of infections with HIV, strep throat, or other contagious illnesses’. So with either disease ( more so with lung cancer) by counteracting the negative effects of these known environmental factors (e.g. not smoking) I can can hopefully decrease my risk of contracting the disease. Knowing what diseases I have increased risk towards I can seek to improve my own health outlook hence lies the less obvious benefit of these tests.
A question now is do I pay more attention to diseases, which I already have a increase risk towards, with a lower genetic contribution as I have more ‘CONTROL’ over my outcome/ risk? Or do I focus on those with a larger genetic contribution as I already have a high risk of developing it and so I want to do what ever I can stop its onset?
Graeme @ graemefielder.com