26th July 2022

Genomics England Patient Stories

Genomics England Patient Stories

Genomics England partner with the NHS to provide platforms that enable genomics to be used to diagnose more accurately, treat more effectively, or even spot conditions before symptoms appear.

Genomic medicine uses insights from a human’s complete set of DNA (called a genome) to inform their healthcare. But because people are very different, studying a genome by itself can’t tell you very much. To make sense of it, it’s essential to know much more about the person and their health, as well as their DNA. Genomic medicine combines these two elements, using the science of genomics alongside information about a person’s health to improve diagnosis and treatment.

We meet with patients and families who have been touched by Sarcoma – rare forms of cancers that begin in the bones and in the soft tissues.

Rachel has been living with rare, incurable sarcoma for over 20 years. In this video, she shares her story. After being diagnosed with GIST (gastrointestinal stromal tumours) when she was 15 years old, she immediately went on palliative (comfort) care. She’s now 35 years old and has spent the past 20 years living with GIST. She’s tried various treatments to help manage her cancer, including getting 90% of her stomach removed. In 2017, her doctors suggested genome sequencing to better understand her cancer. The results of the test gave her some new insights on treatments, as well as her risk factor for developing two other rare cancers. You can read her story here: https://www.genomicsengland.co.uk/blog/rachel-gist-story

Chris Martin lived an incredible life, cut short by a rare soft tissue sarcoma in 2015 – just 2 years after he first visited the doctor for a lump under his right arm. As principal private secretary to former prime minister David Cameron, Chris worked throughout his diagnosis and treatment, including 9 rounds of chemotherapy and additional radiotherapy, searching for answers about the most effective treatment for his type of cancer. His wife, Zoe Conway, speaks about his life, his diagnosis, and how Chris believed that genetic research was one of the keys to unlocking the puzzle of sarcoma. Read about Chris’ story here:


To learn more about Genomics England and their groundbreaking work, please visit: https://www.genomicsengland.co.uk/

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