In August 2011 one of my co-administrators in the Phyllodes Support Group posted in the group a request for 1,000 people who had been diagnosed with sarcoma to be part of a sarcoma research project on 23andMe. The project was sponsored by 5 charities, Beat Sarcoma, Sarcoma UK, Association of Cancer Online Resources, Sarcoma Foundation of America and Sarcoma Alliance. The aim was to genetically test 1,000 people who’d already been diagnosed with a sarcoma and see if this testing would find a link between us all.
A spit sample with the aim of producing a valuable research outcome that may help thousands of others in the future. Of course, I registered immediately.
As part of the testing process each participant received their genetic test results free of charge. I’d never considered having genetic testing so for me the test results were an added bonus.
Between my spit sample being collected by a DHL courier (who looked horrified when I had to declare the content of the package being sent to the US), and my receiving the results I found myself wondering what I would find out, whether I should even read the results, what I would do IF it told me something I’d not like to know.
At the time in the UK the process for genetic testing was to be referred by your Dr and to have counselling as part of the test. The counselling is carried out before, during and after your test results to ensure you’re able to cope with the results and what you would do should they not be what you expected.
However as I was participating in a project run via the US, counselling was not offered and I’d not thought it would be of concern when I signed up.
Me being me, decided that I should do my own ‘counselling’ and, as far as I’m able, ensure that I’m in the best mental state to manage any results – good or bad. I made myself consider what it would be like if I opened the email to discover that I was high risk of an illness, what I would do, who I should tell etc. I made myself not only consider it but imagine that was the result. I needed to know how I’d cope and what I would do in those circumstances.
So when I received an email “Your 23andMe Results are Ready!”, I felt prepared. Although I confess to not opening the email for an hour or so whilst I paced and reconsidered what I’d do.
I was fascinated when I opened up the results. How could a little bit of spit identify that I had blonde straighter hair on average, blue eyes and if a smoker, likely to smoke more! All correct although I’ve now not smoked for years.
Within Disease risk, I discovered that I’m slightly higher at risk of coronary heart disease, ulcerative colitis, breast cancer, celiac, Crohn’s and Lupus. But these are all relative. On most of them I’m only very slightly higher and still it’s only 0.5% chance where the average population is 0.2%. I can see however that one might read that as over twice the risk of the average population rather than 99.5% risk of NOT having the disease.
With all statistics and numbers it’s difficult to interpret them without emotion and to understand percentage risks in a way that’s meaningful.
I was however angry when I read my results for multiple sclerosis. Mum had MS and my Aunt was diagnosed after Mum in the early 90s. I remember Mum telling me that as MS is something that generally passes down the female line, according to her Dr I had now a 50:50 risk of being diagnosed with MS. I’ll admit that this has weighed heavily on my mind since then and has infuenced decisions I’ve made in my life. One of my school friends, Belinda, was diagnosed in her 20s with MS and passed away a few years after diagnosis. And I’ve watched Mum become less able and eventually pass away from MS. So when the results of my 23andMe genetic testing indicated that my risk of being diagnosed with MS was less than the average population, I was livid. I was furious that I’d spent 25 years worrying about it. Every time I had numbness or tingling in my fingers and toes, when my eyesight was playing up and many other ‘symptoms’, I’d wondered if it was the start of MS. Ironically over the years I’ve never thought that they could have been wrong… 25 years ago they knew far less than they now know!
So what else did my results show me? Actually I’m quite healthy! For the most part I’ve a typical result or one that isn’t far off the average population. I also know I have an increased sensitivity to Warfarin… so should I ever be prescribed this, I will know to tell the Dr that I need a decreased dose! Nothing of note within my Carrier Status. Only disease risks that are more than double the average population are melanoma (3.6%), celiac (0.7%) and lupus (0.5%)… but they’re still only very small percentages so I’m not going to worrry about them.
Since my first registration I’ve received regular updates from 23andMe when new research comes to light and my results are re-assessed. I’ve been fascinated to read them.
Within 23andMe you are able to link your results to others and many of us from our Phyllodes Support Group who took part in the trial have done this. We thought it may be interesting to see if there were traits/risks that we could identify between our small cohort group. Sadly we couldn’t see anything that stood out with the exception that many of us had higher than average auto-immune disease risks.
So why this post now?
23andMe have just launched in the UK. This means that anyone is able, for a price, to obtain their own genetic testing via 23andMe and without genetic counselling. It’s a service accessible via the internet.
Germany are considering 23andMe being available there. This week I was asked my views on it and asked to record a piece for their TV channel ZDF. You can see it here from about 4.10.
Inevitably there’s been lots of discussion about whether it’s a good thing. Whether genetic testing should be allowed without counselling? Whether the results provided by 23andMe are accurate enough and using up to date data? My view, is ‘Yes’ but with caution. Anyone undertaking genetic testing needs to consider why they’re doing it. What they want to know/understand from the test results. How they’d deal with the results being good or bad. Who they’d tell.
I wouldn’t have had my genetic testing carried out were it not for the Sarcoma Community Project. However I’m pleased I did. I feel I know more about myself, my health and my risks than before.