Member of the BRC's patient and carer research review panel chosen to represent The Royal Marsden in 100,000 Genomes Project

Date:
11 March 2016

Martin Lee was treated at The Royal Marsden for head and neck cancer in 2009 and continues to be monitored by the hospital. He plays a part in shaping future research as the BRC’s patient representative and is a member of the patient and carer research review panel.

Martin is also now on both the Genomics England patient and public involvement (PPI) steering group and the higher level, Genomics England Project Board.

“PPI is essential as it provides invaluable real-time experience for the academics, enabling researchers to understand the impact on patients,” says Martin.

His role as patient representative for Genomics England is to ensure that the views of patients, carers and families are taken into consideration during the course of the 100,000 Genomes Project and the ‘patient voice’ is being heard.

What is the scope of the 100,000 Genomes Project?

The 100,000 Genomes Project is an ambitious three-year programme to sequence 100,000 whole genomes from NHS patients across England by 2017. Genomics promises incredible benefits in healthcare through scientific discovery, and this study will help to deliver them.

In what way is The Royal Marsden involved?

The project is the latest element of our pioneering work in translational cancer research and personalised medicine. The Royal Marsden is part of the West London Genomic Medical Centre (GMC), along with the Imperial College, Chelsea and Westminster, and Royal Brompton NHS trusts. We’re leading on the cancer element of the partnership, collecting and decoding the genomes from some of the 50,000 cancer patients who are treated at our Chelsea and Sutton sites each year, together with patients from two Royal Marsden associated hospitals: Epsom and St Helier, and Kingston.

Why is genomics so important in cancer treatment?

Identifying the genomic make-up of patients and their tumours is crucial for pinpointing whether they are eligible for targeted therapy. The knowledge we’ve gained in recent years has provided us with an opportunity to accelerate our understanding of cancer, particularly in the area of personalised medicine.

Which patients will be involved?

There has been an extraordinary response by patients and their families wanting to take part in the project. It is anticipated that about 75,000 NHS patients across England with cancer or a rare disease – including some with life-threatening and debilitating diseases – will be involved. Recruitment for the cancer element of the project began in May 2015 to identify and gain consent from patients and to collect tumour samples, extract DNA and start the whole-genome sequencing process.

Can genomics improve the treatment patients receive?

Research into genomes has already led to enhanced treatment for our patients. For example, a mutation in the BRCA2 gene can trigger a type of breast cancer as the body produces faulty proteins and, ultimately, tumours. Identifying the BRCA2 gene enables clinicians to draw up targeted patient treatment plans and potentially increase the chances of remission and survival.

The BRCA2 gene and its links to cancer were discovered 20 years ago by scientists at The Institute of Cancer Research, The Royal Marsden’s academic partner. This paved the way for genetic testing and the discovery of treatments for patients with the faulty gene. This is just one example. Genetic research has enabled new and more precise diagnostic tests, and will lead to more effective and targeted treatments to improve outcomes and reduce side effects of cancer therapies.

BRCA is one of many genes that are altered in cancer. The 100,000 Genomes Project will look at whole human genomes to identify, in a single test, the changes that may be present in many different genes.

What future benefits will we see?

This initiative – and genomics in general – could transform the future of healthcare. It could improve the prediction and prevention of disease, enable new and more precise diagnostic tests, and allow personalisation of drugs and other treatments to specific genetic variants. We’re already pioneers in this field and this project gives us the opportunity to have an even greater impact on cancer treatment and practice in the future. 

To discover more about the 100,000 Genomes Project or to find out how you can take part, visit www.genomicsengland.co.uk.