Research | AnnaGoAnna Wallace

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.

The Clinfield Conference provides an opportunity for research nurses, allied healthcare professionals and all research practitioners to get together in a formal setting. The Conference programme is put together with care to provide sessions to share good practice, things that worked and didn’t work, speakers talking about their career development pathway, patient advocates talking about their experience with research and how they can assist the researchers, debates and also invaluable time for networking.

I have previously been invited to attend this Conference twice by Kelly, who also leads our PPI Clinical Trials Group at Cancer Research Imperial. In April this year I received an email, from Kelly, asking if I would like to do a session, as a patient voice, for either a panel or a debate on the use of social media for recruitment to clinical trials. Of course, I said ‘yes’, put it in my diary and forgot all about it!

Conference Agenda

09:30-10:00 Registration

10:00-10:10 Welcome Professor Janice Sigsworth

10:10-11:00 Why clinical trials and the people who run them matter. Key Note Speaker: Mr Charles Sabine

11:00-11:15 Inspiring the next generation through student placements. Mary Harrison

11:15-11:45 Coffee

11:45-12:45 The Great Debate: The use of social media enhances dissemination and engagement in clinical research.

Chair: Gordon Hill Debaters: Teresa Chinn- We Nurses, Matt Ballentine, Dr Les Gelling- REC Chair, Anna Wallace- Patient Representative

12:45-13:00 Considering a Masters in Research? My experience so far. Stuart Gormley

13:00-14:00 Lunch

14:00-14:25 Stratified Medicine: the challenges and ethical dilemmas genetic testing brings to research. Professor Martin Wilkins

14:25-14:45 Can I retweet please? Health research recruitment and the Twittershpere. Professor Heather Skirton

14:45-15:15 Coffee

15:15-15:30 Regret in patients with acute and chronic conditions recruited to stem cell clinical trials Katrine Bavnbek

15:30-15:45 Beyond Research Delivery to Design and Dissemination- Extending the Role of the Research Nurse Caroline French

15:45-16:00 Closing Remarks and Award Presentations Professor Christine Norton and Kelly Gleason

The whole conference was inspiring but none as moving as Charles Sabine’s presentation.

Charles spoke candidly about his career as a TV journalist where he spent many hours and years reporting from war-torn parts of the world. No doubt an incredible career and something that few of us would be brave enough to do. But then he spoke about something way braver than his time in journalism. He had the whole audience hanging on his every word and, at times, wiping a tear away. Charles’ father was diagnosed with Huntington’s disease (AKA HD). He watched as his father ‘disappeared’ before his eyes. From an intelligent, articulate and ‘alive’ man, he became reliant on others for everything. HD is a progressive and hereditary disorder for which there is currently no cure. Charles and his brother have had genetic testing and both tested positive. Charles’ brother, John, an incredible successful lawyer, is now battling this fast moving and progressive disorder. For the moment, Charles has no signs.

Charles, like so many of us when we are told ‘there is no cure’ ‘there is no research’ or ‘you’re unique’, uses his experience in journalism and as a son, brother and person affected by HD to a different use. He is now a spokesman for freedom of scientific research, and sufferers of degenerative brain illnesses (including HD). He has been talking about his experiences at conference such as this, raising awareness, rallying and organising groups of people affected by HD to speak up and get involved. He spoke of HDBuzz, Huntingdon’s Research News. He also spoke about The Huntington’s Disease Youth Organisation (HDYO) where younger people diagnosed with HD are able to get together in person, online, via social media to support one another but also to push for changes and research.

Charles’ presentation without any hesitation was moving. I wasn’t familiar with HD. I am now. But what I also see is the impact that a patient voice (albeit one from the tellybox) can have on improving awareness, patient care, support and, the everso needed research. Charles’ experience with HD is similar to other rare conditions and diseases and what Charles demonstrated was that by using social media, by using our voices we CAN make an impact. Research may not be within our lifetime nor may it make a difference to our own health but to KNOW that we have made a difference for future generations and that, particularly in the case of hereditary disease, our children or grand-children will have the benefit of our involvement now.

I felt for Mary Harrison, the next speaker on the podium. How could anyone possibly follow Charles’ presentation? She did, brilliantly.

Mary is clearly passionate about encouraging and enthusing the next generation. About engaging all new students in research so that it becomes part of their ‘everyday’ no matter which medical field they end up in for their career. Research should be second nature to consider for each and every person, patient and non-patient. Without research medical advances cannot be made. Healthcare improved and a better and longer quality of life gained.

It was wonderful to hear some of the initiatives and working methods that have been implemented and that Mary is championing. I hope that others attending the conference were able to go back to their workplaces and implement similar projects.

After a short coffee break, it was time for the Great Debate: “The use of social media enhances dissemination and engagement in clinical research”. I was on the stage! We had four debaters, 2 for the motion and 2 against. My job was to debate against the motion. The chair for this session, Gordon Hill, introduced the debate and asked for a show of hands for and against the motion. There was one lonely hand waving ‘against’.

Teresa Chinn, @WeNurses, presented her arguments FOR the use of social media.

Compelling arguments and we could see a great deal of nodding from the audience.

Dr Les Gelling @Leslie_Gelling was first to present his arguments against.

Again I looked out at the audience and saw nodding and acknowledgement of the points Les raised.

Matt Ballantine @ballantine70 stood next to argue FOR the usual of social media.

Last to speak was me. I questioned if you could really engage people with 140 characters and provide enough information for them to make an informed choice. I queried the use of acronyms to reduce the character size reminding the audience that patients and carers don’t yet know what these acronyms mean. I was also able to mention ‘Phyllodes’ in my short presentation 3 times… hehehe a room full of researchers have now heard of our rare cancer!

Without a doubt the debate was difficult. All four speakers are active users of social media and see the value of the medium for dissemination of information. Les and I had discussed before the debate how it was difficult to sound passionate about an argument you didn’t believe in.

In the summing up, Les did a wonderful job of putting doubt into the audience’s mind. About ethics, confidentiality, understanding, interpretation and audience.

There were some very interesting questions from the floor and even some examples of where the use of social media had worked already. Namely when recruiting young mothers to a trial via MumsNet.

Finally a show of hands from the audience to see who was now FOR and AGAINST the motion. Les and I had won the debate – there was now no longer a lonely arm waving but a large number in agreement with our arguments.

I must admit to despite winning the argument feeling a little disappointed. I am in favour of the use of social media for dissemination of information. However what was highlighted in the arguments and questions was that perhaps we’re not quite there yet. Not everyone feels comfortable with social media. Not everyone uses it. We’re not yet au-fait with using social media effectively nor do we know the true impact of using it. Social media is still in its infancy and as such there is still a great deal to learn.

It should be something that is used for some aspects now. It is somewhere that we can learn more and engage and encourage people to become active in research. It is somewhere that can clinical research trials can be advertised or links to recruitment programmes be discussed.

I think the debate was wonderful as it clearly made the audience think more closely about their use of social media. It will hopefully mean that it can be used as ‘part of’ a recruitment project but with consideration for confidentiality, ethics and understanding.

The afternoon sessions at the conference were fascinating. It was wonderful to hear from various people about their passion for research, inclusion, consideration of patient side effects and quality of life but mostly about the willingness to share with others their experiences (good and bad). I know that all those attending this conference will have left with a new understanding of some aspects of research and I’m quite sure many will have been implementing changes or looking at the way they’re currently operating to improve the research landscape.

I’m passionate about research.

It should be part of everyday conversation.

Sadly most of us only think about research when we or a loved one is ill.

Research is also conducted on people who are well with the use of surveys, spit or blood samples.

Research doesn’t have to be invasive or require the taking of medication.

YOUR involvement in research could make a difference in the future.