Ethics and Lifelong Learning – It’s All in the Family
18 April 2023
This blog has been written by Julie Young, who is undertaking an ethics placement at the Ethox Centre (part of the Big Data Institute in Oxford) and the Centre for Personalised Medicine (CPM) in 2023. Julie is a former cancer patient and a carrier of a gene variant (MSH6) associated with Lynch Syndrome, thought to be the most common cause of hereditary colorectal cancer (1). Julie’s placement explores issues around the personal responsibility of family members to inform others of their Lynch syndrome status and is being undertaken as part of the Cangene Canvar (CGCV) programme.
CGCV is a 5 year programme running until 2024 and funded by Cancer Research UK. The programme aims to improve the integration of genetic and genomic science advances into the UK National Health System using six interlinked work-packages. These marry advances in analysis of genomic and cancer data with clinical-facing resources, tools and education to fulfil a key aim of ensuring ‘the best evidence available today is applied effectively and consistently across our national NHS and clinical and laboratory systems’. The sixth workpackage focuses on ethics governance and policy relating to the programme and is led by researchers from Ethox (Michael Parker, Kate Sahan) and the CPM (Anneke Lucassen).
In the last week of January 2023, Julie visited the Centre for an intensive week of reading, attending seminars and discussions with ethics researchers working in the fields of research ethics, and the ethics of genetics and genomics.
(1) CDC 2023
Introduction to Julie
My name is Julie Young and I’m 48 years old and a carrier of Lynch Syndrome MSH6 variant. I first discovered that I had this gene mutation at the age of 44 years after my diagnoses of Rectal Cancer. My episode of cancer came not too long after that of my father and his sister, it was only after I had been carrying out a little genealogy that I discovered that there were far more episodes of cancer in our family than we realised. I was quite relieved, in a strange way, to discover that I had a gene mutation that had caused my cancer because I had always lived a healthy lifestyle, I had never smoked, never drank and kept a healthy weight and exercise ratio and so to find that this wasn’t something that I had contributed to was reassuring.
My thoughts after this were to ensure my children and other family members were aware and so they would hopefully be prevented from having to go through the same disease.
I decided to actively seek as much information as I could as this made me feel empowered and I felt that way I would be able to help others. I firstly joined the Lynch Syndrome UK Facebook group and website to connect with others who were going through a similar journey (my Lynch Family) and it was through this channel that I discovered the CanGene-CanVar programme, which I have included a little more information about in this post, and I excitedly volunteered to become a Patient Reference Panel (PRP) member. Being a part of the PRP meant that I could actively input into projects going on and find out as much information as I possibly could.
Recently I volunteered for an ethics placement with The Ethox Centre in Oxford as part of my PRP work for CanGene-CanVar. My placement is a reflection from the perspective of a Lynch Syndrome carrier about how to communicate about Lynch within families. As part of this, I spent a week in Oxford thinking and talking about the ethical issues involved. Here is my record of my week there.
We arrived here Sunday evening after a long drive but with an air of anticipation about the week ahead. I had so many questions about what would be expected of me and most of all if I could actually live up to them. I’m just an ordinary woman from a town in County Durham travelling down to one of the most talked about areas of learning and research in the country so I am not going to lie, I was a little nervous.
I arrived at the Big Data Institute on Monday morning nice and early, it was a lovely way to sit in the big airy atrium and take in the atmosphere whilst I waited to meet with Aileen. The Atrium is so vast as is the building, its such an impressive space and so immersive, it has been so well thought out as a place to work and it is a perfect space to read, research and learn in.
I met with Aileen the lovely email contact I had made before travelling down, this was the lady that booked my accommodation for me but also is an organisational mastermind. Aileen took me to where the Ethox team work in the building and showed me around, she also set me up with somewhere to work from and I settled into my workspace for the week, I felt so lucky for the opportunity to come and take in this atmosphere, its peaceful, productive and very friendly.
After a short while the lovely Kate arrived and we sat and chatted for a while. Kate Sahan is an ethics fellow in the CanGene- CanVar programme and plays an important part of Work package 6 (ethics, governance and policy relating to the programme). Kate introduced me to lots of people in the Ethox department, all of who are lovely and unassuming in their work and yet do some thoroughly amazing scientific and ethical research. For example, I was particularly interested to see research on managing expectations, rights and duties within large-scale genomics initiatives (for example, see this paper by Horn & Merchant) and whether the public rely on or trust institutions like the NHS to deliver genomic medicine.
I was given a number of research papers to read through which gave me a taste of some of the work that is carried out into research into the ethics of communicating genetic results, especially when these results predispose people to developing cancers (2). This gave me an afternoon of my own research and what a place to do this, it’s both quiet and studious but also warm and inviting and everyone I have met has been extremely welcoming.
(2) Genetic predisposition: A genetic predisposition (sometimes also called a genetic susceptibility) is an increased likelihood of developing a particular disease based on a person’s genetic makeup. A genetic predisposition results from specific genetic variations that are often inherited from a parent. www.medicineplus.gov
Tuesday morning I arrived a little nervous again, this time as I had a meeting with Mike Parker. I say this lightly as it was an honour and he is such a lovely man, yet has been involved in tremendous amounts of inspiring and life changing research, including but certainly not limited to being a Director of the Ethox Centre and also Director of the Wellcome Centre for Ethics and Humanities. We shared a very relaxed cup of tea and I found out a little snippet of what his interests in this field were and a little about his personal life outside of work. I was asked what I would like to get out of the week ahead and I really didn’t know how to answer this question, to me, any little bit of help that I can be in raising awareness of the importance of Genetic testing and medicine and the prevention of disease is an absolute pleasure and I am passionate about this.
I am learning very quickly here that knowledge is ever expanding, every time you think you know something, you find that in fact you are only ever on the precipice of learning.
In the afternoon (and on other days) I was given the opportunity to sit in on a student ‘Winter School’ exchange programme which was fascinating.
The winter school programme is a joint collaboration between The Ethox Centre, the Department of Medical Humanities of the VU University Medical Centre (Vumc) and the Department of Philosophy of VU University in Amsterdam. It was introduced as an exchange programme for ethics, philosophy and medical students who are mainly from Amsterdam and England. It involves students giving presentations on papers published by staff members of Ethox and colleagues from the Wellcome Centre for Ethics and Humanities (WEH), and engaging in discussions about contemporary bioethical issues. On this occasion it was the Dutch and some German students who visited Oxford. The students worked in pairs and gave a presentation on a particular ethical research paper of their own choice, they then questioned some of the content of the paper and gave their own thoughts, and following this, opened the floor up to questions from the audience and the author of the paper.
I imagine this to have been very daunting, however, they certainly did not show any nerves in carrying out this task. The students were all extremely polite and knowledgeable and it was so thought provoking to be a part of this process. They questioned what they thought and believed and also gave the original authors much to think about which is no small feat.
Wednesday was the day I was to have a meeting with Kate and Prof Anneke Lucassen.
Again, this was an absolute honour for me, and a little time is never enough. I learned again only a little of what Anneke does, both on the Cangene-Canvar Programme and in her role at the Wellcome Centre for Human Genetics, but this is only the tip of the iceberg. I found Anneke to be totally committed to her absolute passion of genetic research, she is so driven in her field it was such a pleasure to meet her.
We exchanged stories and have decided that we will look at producing a podcast about the patient perspective in the ethics of familial communication in Lynch Syndrome, with the help of many I might add, and this will be something to work towards in the upcoming weeks. Hopefully, I can help, even if it is only in a small part to actively encourage people to work towards contributing towards the collection and input of data and increase of knowledge for all when it comes to Genetics and Genomic research and medicine.
But also in many ways, improvements in the way we can relay information about our discoveries of genetic information between medical professionals and also between families so that we can then increase knowledge at all levels because the more knowledge and data we have the more power we have to improve and increase options for surveillance and preventative measures.
It is so inspiring to think that all of these people work diligently at pushing for bigger and better research, treatments and preventative measures for genetic medicine.
After meeting with Prof. Lucassen we went back to the BDI and I was so fortunate that I was able to sit in on the Winter School Programme again and this time with none other than Prof Anneke Lucassen. It was an inspiring presentation again and some very positive input was made into the discussions, it seemed all of the students were extremely interested to hear this presentation and listen to Professor Lucassen’s comments and remarks.
Thursday I spent half a day at the Ethox Centre and then had a little bit of an exploration into Oxford. The weather wasn’t fantastic but the people we met were, it is a city that is buzzing with universities and learning and is very culturally diverse, it’s fascinating.
That leads me to Friday and sadly my last day here. I enjoyed my week at the Big Data Institute immensely and will miss all of the new friends and acquaintances that I have met very much indeed. It has been an awesome week which has given me a thirst for more knowledge and more ways to help increase awareness. I will leave here with far more questions than I arrived with because there is always such a lot to learn and I have been inspired more than anything, inspired by the time and patience that is input into this field, most of which goes on without our ever knowing and also by the students of today who are working towards a better tomorrow.
A chain is only as strong as its weakest link and so we all need to work together to make the strongest chain we can.
Visiting the BDI was eye opening in so many ways. The building itself is set in a very historic town yet it is state of the art and whilst in there you could honestly forget just where you are and be anywhere in the world. The environment is perfect for applying thought and concentration to what you are doing. It is a rabbit warren of research with many different projects happening in various areas, on each floor, with way too many projects to mention here. Many workers are still working from home post Covid 19 and so it isn’t as busy as it would have been previously in the building.
Meeting the Ethox team was a pleasure as they have direct input into our Cangene-Canvar project, ensuring that all that is said and done is ethically correct and well researched. I have to admit that before visiting the BDI I was shamefully unaware of just how much input Work Package 6 put into our entire project, in essence, if it wasn’t for their input we probably wouldn’t have any of our ideas and suggestions even get off the starting block. It’s like having a house without the foundations, nothing would be strong enough to stand the test of time.
The CanGene-CanVar project is something I am really proud to be a part of and the team work that goes into it is amazing, each and every person is respectfully listened to and encouraged and each and every person I have met has been extraordinarily passionate about the same thing. I hope that my placement and other PRP work helps to raise awareness of the importance of collecting genomic data and cancer data. By exploring how to help families talk about inherited genetic conditions, we can learn more about how to actively encourage people to contribute their data to projects like Cangene. The hope is that this will then increase knowledge at all levels and improve genetic services immensely. It will lead to smoother and faster diagnosis and preventative measures so that we are dealing less with treatment of disease in the future but better surveillance and therefore prevention. However, in the case of disease treatments, we will be better positioned as these will be far more effective as we will have more data to back up what has worked and what has not.
Thank you for taking the time to read my post!