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NZ Life & Leisure Issue 45’s Early adopters column described the mail-order DNA service available from US-based company 23andMe. By registering with the company applicants can uncover their personal risk for 118 different diseases and carrier status for another 47. We had an anonymous volunteer send off a sample.
Read the results below.... and then see the astonishing follow-up story of how 23andMe might have saved our "volunteeer" from contracting colon cancer.
It started as a kind of dare. A tentative idea about peeking at answers we couldn’t otherwise know to impossible questions: what is my health future? Is there a time bomb waiting to go off in five, 10 or 20 years? Should I buy those ridiculous shoes? Should I up my super contributions? What about all those cigarettes I smoked?
I made my much younger brother do it first. The results were back within two weeks. “Incoming prostate cancer, baldness and gout but looking good for heart disease, schizophrenia and diabetes,” he told me cheerfully. Dear Lord.
So I did it too. The kit duly arrived and required five minutes of paperwork and password generation followed by an amusing five minutes generating spit for a specially designed vial. I drove the package to the courier company at the airport with its HUMAN TISSUE SAMPLE/NON BIO HAZARD label plastered across the front, but the man at the desk didn’t even blink.
The emails started shortly after. Your sample is being tracked! We will let you know when we receive it! Then... We have received your sample! Your results will be emailed to you within days! I felt I was about to receive a crystal ball with maybe a lead bullet inside but I did consciously try not to think about it too much. Why fret before you know? Plenty of time for self-pity and wheatgrass later, I decided, when grim news is actually to hand.
And then it arrived. Page after electronic page of information and calculation and explanation about disease risk, carrier status, drug response and traits as well as ancestry information, both maternal and paternal, global similarities and, of course, my relative status to any other 23andMe members. Turns out my brother is, in fact, my brother.
As for the health findings, there were a few unsettling announcements but nothing too grim. Leading the charge was an increased risk for colorectal cancer calculated at 5.3 per 100 as opposed to 4.0 when filtered by age and ethnicity. Next worst was restless leg syndrome (me 5.2 per 100 as opposed to 4.2 per 100), then exfoliation glaucoma (me 2.0, everyone else 1.0), chronic kidney disease (me 2.7 versus 2.2) and, to finish, Parkinson’s (2.6 versus 1.6).
To balance that lot out, my risk for a number of nasties was reduced, including a lack of three markers associated with early-onset breast cancer, a ranking of five percent below average for diabetes and Altzheimer’s and a slightly below average result for lung cancer but, given the impact on smoking over genetic inheritance, I’m still not off the hook.
But it was the Traits section that really gripped my interest. So many things: how my body metabolizes food; the likelihood of me being a sprinter as opposed to a marathon runner (sprinter apparently); my sensitively to Warfarin (high evidently) and surprising news of a non-ABO blood type which may impact negatively for me should I ever need a transfusion. No pun intended. The categories are endless; so many fascinating pieces of my individual puzzle, so undoubtedly boring for anyone else.
But I’m pleased I did it. I’m not big on surprises at the best of times and all of this is so interesting to read. I suppose I feel relieved more than anything else and I am going to have an eye exam and a colonoscopy. I made my husband have one last year, given he is well on the way to being half a hundred, and it came up perfectly clear so it’s only fair that I endure the same.
Most of all I am going to say thank you to the universe for delivering me this far into my life relatively unscathed, despite my best efforts between the ages of 18 and 30, and to my parents and their parents for some fairly robust genes. Because it seems that the rest of it really is up to me.
Like many people who sign up for 23andMe, I felt almost blasé after I read the results. My risk elevations were small compared to some I had seen and my general health was so good that I felt it was probably a waste of everyone’s time to have any screening done.
However, my risk for Colorectal cancer was stated as 5.3 per 100 as opposed to 4.2 per 100 when filtered by age and ethnicity, so for the sake of my three children and at the urging of my husband (possibly revenge for making him have one done last year with completely clear results) I asked a GP at our local surgery for a referral.
She said no. She said I was too young (47) and that it was unnecessary and that I should wait until I was 50.
The following week I was back at the surgery with one of the children seeing another doctor and I mentioned it to her.
‘Sure!’ She said. ‘Good idea. I’ll send the referral.’
When the nurse at the hospital rang to make the appointment I asked for a date three months out, on a Friday afternoon when the children were to be away for the weekend.
The day soon arrived and while the ‘prep’ (flushing out of the bowel) is rather unpleasant the day before, it’s pretty minor. The actual procedure is nothing to worry about either and the sandwich and the cup of tea the nurse brings afterwards were sensational.
When I was awake enough to get dressed I was called in to see the Doctor.
He smiled and said, “This is your lucky day.”
He told me he found and removed nine polyps including two which were 2.5cm which is the threshold for benign polyps becoming cancerous.
He said it was unlikely I would have made 50 without developing cancer and that I probably would not have known I had cancer until the disease had significantly progressed as there are no symptoms in the early stages.
To say I was stunned would be an understatement.
“What did I do wrong?” was my ridiculous first question.
“Nothing” he said. “At your age, it’s a genetic presentation.”
A genetic presentation. Silent, invisible and inevitable.
There is every possibility I would not have asked for a referral the second time had I not been back the doctor’s office the following week. Just as I now understand why 23andMe make you agree you accept responsibility for the ‘emotional impact’ of your results.
So for everyone reading this who is hovering near to 50 years of age - get yourself screened.