Participant voices

Participant stories

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

We recently 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 where Professor Frances Flinter (Consultant Clinical Geneticist) gave an update on the Project and its progress. 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 report

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.

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.

Participants 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)