Meet Rachel. Genomics helped turned the tide for her.

35-year-old Rachel Gilbert has an incurable and rare subtype of sarcoma. Over the past 20 years she’s had 16 tumours removed from her stomach. Together with Genomics England, we are sharing her story.

In 2017, Rachel had genome sequencing and the results helped identify the most suitable treatments for her, along with ones she wouldn’t be able to tolerate. The process indicated that Rachel’s type of sarcoma could be hereditary, enabling her family to be eligible for screening. It also highlighted she was at a higher risk of developing other rare cancers, which she is now screened for annually.

‘Genomic testing has been really helpful to myself and my family,’ says Rachel. ‘It’s reassuring to be regularly screened for other cancers and to know that my doctors are using the best information available to them to treat me, as sometimes in the past, treatment would make me really sick. It may also be useful for my family to be screened to see if they are more at risk of developing cancer.’

July is Sarcoma Awareness Month, and a unique genomic research project into sarcoma – a rare cancer that can affect any part of the body – is underway to try to quicken diagnoses and help doctors distinguish sarcoma from other types of cancers.

Genome sequencing and Artificial Intelligence technology is being used to analyse the genomes of 1,500 sarcoma samples collected from participants from the 100,000 Genomes Project to help diagnose and distinguish it from other cancers.  Rachel’s story is a good example of how genomic sequencing can benefit people with rare conditions such as ‘wild-type’ GIST.

The outcomes from the project could help the 15 people a day diagnosed with sarcoma in the UK – and while progress has been made, researchers urgently need more samples so they can continue to learn about the disease.

‘Very little is known about why this cancer develops because sarcoma is so rare, with 100 different recognised sub-types, and it’s more genomically complex than most other cancers,’ says Professor Adrienne Flanagan, who is leading the project at the University College London Cancer Institute (UCL).

‘We’re using genomic sequencing to look at what is driving the sarcoma. There aren’t any drugs specifically developed to treat this type of cancer, so we’re examining the genomic data to see if there are existing drugs that can be repurposed to treat it .

Although we’re learning more about sarcoma, we need more patient samples donated so our research can continue. Having a ‘critical mass’ of data from each of the different sarcoma types will help us understand why sarcoma develops. If we can continue to learn more about the different types of tumours and what makes each one different, we’ll be able to offer patients tailored treatments for their particular tumour type.’

Sarcoma UK is backing the call for other sarcoma patients to join the research project and help “turn the tide” and improve our knowledge of one of the least well understood forms of cancer.

‘Lack of awareness means that sarcoma is often diagnosed at the late stages which is costing lives,’ said Dr Sorrel Bickley, Sarcoma UK’s Director of Research, Policy and Support. ‘The later a sarcoma is diagnosed, the fewer options there are available for treatment and the higher the chance of that treatment not working. Current research is vital for helping to unlock the secrets of this disease and to improve quality of life and treatment for people.’

Rachel is normally found sharing her life on TikTok and throughout July she’s sharing her world with us. Genomics England are sharing her extraordinary story and she’ll take over the Sarcoma UK’s Instagram every Monday from 11 July. 

About Genomics England

Genomics England is a global leader in advancing and delivering genomic medicine at scale, for all. Building on our delivery of the 100,000 Genomes Project, we are today enabling the world’s first national Whole Genome Sequencing service in the NHS Genomic Medicine Service, delivering the most advanced genomic healthcare today.

We maximise the patient and participant benefit of this service by using the same trusted and proven infrastructure and expertise, and consent and governance framework, to support the development of the genomic medicine of tomorrow, together with the NHS, industry, and academia. All this focused on delivering our vision of a world in which everyone benefits from genomic medicine.