By far the hardest part of the test was grappling with the packaging and then working out how to send the kit back to America. The Fedex instructions were very confusing, and no UK contact details were given. I eventually found a UK telephone number on the Fedex website and was then able to ring up and make arrangements for a courier to come and collect the kit. Before my test could be processed I was required to read and agree to a very lengthy and thorough consent document which reminded me first and foremost that it is "not a test or kit designed to diagnose disease or medical conditions, and it is not intended to be medical advice". The full text of the consent form can be read on the 23andMe website.
The results are all made available through a personal account on the 23andMe website. I have provided below a few sample screenshots. You will need to click on the images to enlarge them. 23andMe distinguishes between "established research" and "preliminary research". For results to be classified as "established research" (shown on the screenshots with four yellow stars) the association must be widely accepted in the scientific community or validated by at least two studies on more than 750 people with the trait or condition. "Preliminary research" reports are shown with grey stars and are graded depending on the size of the study or studies in question. These findings have not been replicated in other studies and have therefore not yet been confirmed by the scientific community. The results for Parkinson's disease and breast cancer are initially locked, and you are required to read the warnings before deciding whether or not to access these results.
My results also show that I have a slightly elevated risk of age-related macular degeneration and exfoliation glaucoma. I have no family history of either condition and I have never smoked, both of which can be contributory factors. I have been short-sighted since childhood and, because I wear contact lenses, I go for regular check-ups with my optician. I will be therefore be able to alert my optician to the report, and ask her advice when I next go for a check-up.
Amongst the preliminary research reports I was particularly interested to see that I have a genotype which, if the results of the preliminary study on just one marker can be replicated, would put me at substantially higher odds of contracting diffuse-type stomach cancer. My maternal grandmother died of stomach cancer, albeit at the advanced age of 89, so I quite possibly do have a genetic predisposition. The study cited looked at 925 patients and 1,396 healthy controls from Japan. It will be interesting to see if these results can be replicated in other studies and particularly in European populations. One of the most useful features of the 23andMe service is that your results are continually updated with new findings from published papers.
The remaining results are organised into two further sections - those for which I have a decreased risk and those for which I have a typical risk. The way that the risks are presented is somewhat confusing. According to 23andMe my biggest risk is for obesity. I have a typical risk of 50.6% which is slightly lower than the average of 59%. It seems odd that obesity, my highest risk factor, is not highlighted in red at the top of the page whereas bipolar disease, for which I have only a 0.2% risk versus the average of 0.1% is flagged in red.
I have had no big surprises from the 23andMe test, but it has certainly been an interesting experience exploring my results. I will write more about some of the other features in future posts.
Update 31 July 2010
In today's Times newspaper there was a report from Mark Henderson, the Science Correspondent, on the contradictory population risk data provided by the leading personal genetics companies. If you have a subscription to The Times (you can sign up for a weekly subscription for a nominal fee) you can read the full story here along with the associated commentary from Daniel MacArthur here. Mark had his DNA tested with three different companies: 23andMe, deCODEme and Pathway Genomics. He discusses his results here and in a blog posting here. The Times story begins:
Personal genetic testing companies are to change the way that they present health risks after an investigation by The Times exposed how they can mislead people about their chances of developing disease. Three services have agreed to correct problems that can produce confusing and potentially inaccurate personal risk predictions for serious conditions such as heart attacks and diabetes.
The companies are giving the same individuals widely different risk estimates for some diseases because of uncertainty about how widespread the conditions are in the general population. This uncertainty affects the personal risks sent to customers but is not declared in their results...All three companies have announced that they will be reviewing their services and have said that "they would provide clear sources for population risk of diseases, and warn customers that the personal risks calculated might not be accurate for everybody." 23andMe have advised that they would "make adjustments within weeks". I have been very impressed by the commendable way in which the companies have responded to these concerns and I look forward to seeing the amendments to my 23andMe results in due course.
Part 2 Carrier status and drug responses
Part 3 Traits
Part 4 Ancestry
© Debbie Kennett 2010