Warwick Hospital, part of South Warwickshire NHS Foundation Trust, has recruited its first patient to the pioneering 100,000 Genomes Project.

Susan Villis has given her complete genetic code, known as a genome, which will be sequenced, giving scientists a better understanding of how rare diseases and cancer work.

Susan’s genome will be compared with family members and other people with similar symptoms, and could lead to improved diagnosis and treatment.

“I was referred to Coventry Hospital by my dermatologist, Mr Sharif, who suspected a genetic link with medical issues I was having,” Susan explains.

“He thought I could have Gorlin syndrome and felt the 100,000 project was a great way of potentially giving me a proper diagnosis.

“I was asked if I wanted to get involved with the project and didn’t hesitate in saying yes.

“This project is so important – doctors can now look at so much information, and the more data we can give them to help them improve diagnosis and treatment, the better.

“Anything that could help my family or help advance medicine generally is a great idea.”

Gorlin syndrome is one of many rare diseases eligible for the project and is a condition that increases the risk of developing cancerous and non-cancerous tumours.

The 100,000 Genomes Project is the first of its type, globally, and is open to patients with eligible rare diseases, as well as those with certain cancers.

Sean James is one of three Genomics Ambassadors for the West Midlands Genomic Medicine Centre (WMGMC), covering the south and east of the region, and talked Susan through the process.

“I am delighted that our first patient has been recruited to the programme in Warwick,” Sean commented.

“People like Susan are helping us to revolutionise healthcare, as we will be able to better understand disease by linking their entire genetic code with their medical records.

“Whole genome sequencing means we may be able to provide diagnoses for some rare diseases.”

Genomes are found in every part of the human body and they are the genetic instructions that make every person different. Over 3 billion genetic letters are then sequenced – put into order – so scientists can eventually look for patterns and understand how disease works.

Warwick Hospital is one of 17 NHS trusts in the West Midlands Genomic Medicine Centre (WMGMC), one of 13 GMCs across England.

The aim of the project is to collect and sequence 100,000 whole genomes, from patients with rare diseases and their families as well as cancer patients to enable doctors to understand the conditions better and develop patient-specific personalised care.

The project will potentially provide much-needed answers for those who have previously not known the exact cause of their own or their family members’ rare disease.

 

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