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Participant stories

Participants from the NHS Genomic Medicine Service share their stories on how genomic medicine impacted their lives.

Dad lifting daughter into air, both laughing

The life-changing impact of genomic medicine

Watch this video on Jessica – one of the first children to be diagnosed in the 100,000 Genomes Project – and how genomic medicine narrowed her diagnosis from 6.4 million possible variants to one.

Read Jessica's full story

The Lloyd family

Three sisters, Mary, Sandra and Kerry Lloyd all developed breast cancer within 15 months of each other. They joined the 100,000 Genomes Project to understand more about their cancer – if it was inherited and what the risks to other family members might be.

The three sisters are not the only ones affected by cancer in their family. Their late mother had also been affected, as well as two other female relatives over three generations.

They had already undergone genetic testing for changes in the BRCA1 and BRCA2 genes – which can be a cause of breast cancer. But these tests didn’t find anything. The sisters donated a small amount of blood and had their genomes sequenced. Bioinformaticians are now analysing the sequences to see if there are any changes in their 3.2 billion letters of DNA code that could be a cause of their cancer.

Learn more about cancer genomics

Alex's story

In this video, participant Alexander Masterson and his mum, Kirsty, speak about what getting a diagnosis from the 100,000 Genomes Project means to them.

Find out about the rare disease that he was diagnosed with as a child, Noonan syndrome, and how his recent genetic diagnosis of LEOPARD syndrome is changing their view.

Hear from Alex about his experiences of living with his rare disease, as well as his plans for the future.

Watch more participants' stories

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