Participant voices

Participant stories

Hear from some of the participants of the 100,000 Genomes Project about why they chose to get involved.

  • The 100,000 Genomes Project – participant stories – video transcript

    Text: This focus group was set up as part of our ongoing participant engagement process, listening and involving existing #genomes 100k participant to shape future recruitment to the project.

    Professor Frances Flinter: This is a very exciting and very challenging programme, it enables us to harness the fantastic advances that there have been in our scientific ability to sequence large amounts of DNA and we're now facing the even greater challenges of trying to interpret all the sequence data that's been generated in order to look for alterations in the DNA that will help us understand the cause of conditions in various patients who've been recruited to the project.

    Text: Why is it important to engage with participants?

    Frances: Our process for consenting patients has been evolving over the last couple of years and is constantly changing and it's very helpful to have feedback from patients to find out how did they find it? What did it feel like when they were first approached and offered recruitment to the project? Do they feel that they had easy access to the sort of information that they needed in order to make a decision? Did they have plenty of opportunities to ask questions afterwards? And have we managed their expectations in a realistic way? So that they understand why it might be a very long time before they get any results.

    Text: What the participants said...

    Genomes project participant: Well really because I was very, very interested in in you know helping in some way maybe future people that have similar conditions to what I've got. Also I've got a concern within the family, I've got a brother and sister that at the moment aren't presenting in any way as having anything but they they could have so it may well, they are not involved in the project at all, but it might inform them. And we've all got children, I've got a daughter, so I think you know for future generations as well not just within my family but perhaps other other people's families that have similar conditions. And also my wife is obviously very anxious about my health and potentially her daughter, our daughter, so I think it would be really interesting to be involved and, and you know hopefully there can be positive outcomes from it.

    Genomes project participant: The benefit to others, the benefit to myself and helping to be more clear in what treatments that may be available to me further down the line for anything that may be detected or diagnosed. And I'm also curious about the project, I've been aware of genome testing for quite some time but I've never really looked into it, so when it came up as an option I was quite curious and inquisitive. So I had a sister who was diagnosed with cancer and the diagnosis came late and it was too late to treat her so that's sort of a lesson for me that you know it's better to know than not to know.

    Genomes project participant: I joined a programme because my son, who's 12 years old, has a number of health issues that have really not been resolved. And following a number of tests, I was invited to join the project and I'm certainly very interested to know whether there is any genetic connection and I think generally I'm just interested in in the scope of the project.

    Genomes project participant: Well wouldn't it be lovely to find some results that make a difference in the long run where we can predict and avoid sicknesses and illnesses.

    Text: Did you have any concerns?

    Genomes project participant: I suppose the main concern I had was what happens with this information and whether it could adversely affect myself, my son or my family in some other way in the future, in terms of their ability to be insured for example. But I've been reassured that that's that seems to have been anticipated and I've got confidence in the project and the staff running it, so we go from there.

    Genomes project participant: The concerns were to remain anonymous apart from that no concerns whatsoever, I find it an exciting project to be involved with and I just think we had to put trust in the personnel involved to make sure that we do remain anonymous.

    Text: How was your experience today?

    Genomes project participant: What I found was really, really reassuring was to just be around a table meeting other people that are invovled in the project and, hearing a little bit about their stories. I mean nobody really revealed too much, but people did go into a little bit of detail about what their experiences have been and what their concerns are. And it's quite nice to hear other people's concerns and, in a way, feel like that most of us have similar concerns and there's reassurance in realising that there are other people feeling similarly about the different issues that you might get when you're involved or when you've got a medical condition that no one can really explain.

    Genomes project participant: It was interesting to meet the other patients and to hear why they're here. And people have come for a number of different reasons and I think that's really interesting. And I think what I also learnt today was just how huge this is and its potential, hopefully, to improve people's lives, so I'm happy to be part of it.

    Text: Thank you to all those who took part in the August focus group. Contact the team if you would also like to be involved in our future events.

 

We held a focus group for participants from both the Cancer and Rare Disease routes of the 100,000 Genomes Project. The video above includes interviews with some of the 13 participants and carers who attended.

The afternoon began with a welcome session. This was followed by the focus group, where a Patient Engagement Officer facilitated a discussion about the participants’ experience of the Project so far. After this, afternoon tea was served and attendees had the opportunity to meet the Project team.

Read the full 100,000 Genomes Project focus group report (PDF 321Kb).

Case studies

Read case studies from participants and their families who are taking part in the 100,000 Genomes Project.

  • Alex's story

    As it’s announced that the 100,000 Genomes Project has reached its halfway point, one of the first patients to sign up reveals that his rare condition has been
    diagnosed after years of speculation.

    Ale20180220-patient Alex Mastersonx Masterson, 19 was originally diagnosed with Noonan syndrome – a genetic disorder that can cause heart defects and distinctive facial features – when he was five years old, but he did not have a mutation in the genes usually known to cause the condition.

    Dr Melita Irving, consultant clinical geneticist at Guy’s and St Thomas’, told the family about the 100,000 Genomes Project in 2014 and they enrolled Alex straight away.

    Sequencing of his genome revealed that Alex has a related rare genetic disorder called Leopard syndrome, also known as Noonan syndrome with multiple lentigines (NSML).

    His mum Kirsty, 46, said: “I cried when we got the diagnosis because it was such a relief to have an answer. Although it won’t change his life expectancy or treatment options, it has given us closure after spending so many years wondering and might help other people in the future."

    Read more about how the correct diagnosis has benefited Alex and his family.

  • Michael’s story

    Space satellite engineer Michael Loweth, 38 had never been given a precise diagnosis to explain why he stopped growing when he was 4ft 2in. He is part of a tall family, but Michael and his brother John are both height-restricted. This suggests that there might be an underlying genetic reason. Michael is seeking the answer as part of the 100,000 Genomes Project.

    Space satellite engineer Michael Loweth, 38 had never been given a precise diagnosis to explain why he stopped growing when he was 4ft 2in. He is part of a tall family, but Michael and his brother John are both height-restricted. This suggests that there might be an underlying genetic reason. Michael is seeking the answer as part of the 100,000 Genomes Project.

    Michael, his father, his brother and his sister are having their genomes sequenced.

    His doctor expects to find that Michael’s height restriction is caused by a change in one of the genes that we already know plays a role in skeletal development, or one that we have not been aware of until now.

    Michael Loweth is taking part in the 100,000 Genomes Project.

    Having a diagnosis didn’t cross my mind until I was asked for it on a job application form. My specialist, who I had seen once a year for nearly all my life, hadn’t encountered anyone like me or my brother before. He said what we have may be unique, but he put me in touch with Dr Melita Irving, consultant clinical geneticist at Guy’s and St Thomas’, for a genetic diagnosis.

    After earlier consultations Dr Irving contacted me about the 100,000 Genome Project. It seemed like a great chance, so I thought ‘why not?’ It will be a nice answer to have – like any other question – but one that will also be useful for the wider scientific consciousness. As a scientist and an engineer, that’s important to me.

    The answers won’t change my life, but they might help other people in the future. From my perspective, if someone has a similar issue, I hope that my family and I can demonstrate that it won’t ruin your life, and in fact it will provide some strange and wonderful opportunities.

    What my height has taught me

    One of the biggest things my height has taught me is a degree of independence. I problem-solve in everyday life.

    When I was young, and starting to ask questions, our doctor said to my parents, “You’ve got to make a choice. Do you mollycoddle and protect your sons, or do you let them get on with life?” My parents agreed they would treat me just like everybody else. It’s what made me have to learn my way.

    That’s been an important process learning where my advantages lie and how to use them, how to minimise the disadvantages, and how to solve my own problems. I’m eternally grateful to my parents for doing that, and to the doctor who pointed it out. 

    What I have achieved

    The lessons I learned have shown me that my height is not a problem to be solved. Being taller could be useful but then I wouldn’t be me. I’ve coxed at Henley, white water kayaked down Welsh rivers, jumped out of planes on a parachute, worked at NASA, scuba dived in Turkey, and met astronauts and billionaires. I’ve been inspired and I’ve inspired others. I’ve had so many amazing experiences that I know my life has very few limits but some great challenges which I always try to face head-on.

Our genetics service

Our clinical genetics service serves over five million people. Regional genetics clinics offer services to diagnose and assess the risk of individuals and families inheriting a genetic condition.

Patient feedback

Our participants have often given feedback on their personal experiences of the 100,000 Genomes Project.

Participant stories from NHS Genomic Medicine Centres

100,000 Genomes Project focus group - key findings (PDF 321Kb)

Guy's and St Thomas' participant feedback report (PDF 2Mb)

Project results

We have completed recruiting participants for the 100,000 Genomes Project.

Genomics England will share results throughout 2019.

If you are interested in taking part in research, see our studies and trials pages for details of open studies.