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From Bench To Bedside- How Next Generation Sequencing Is Changing The Lives Of Cancer Patients

Content sponsored by Sigma-Aldrich® Advanced Genomics

Next Generation Sequencing is to play a central role in a £2.7 million funded by the Wellcome Trust in the UK.

The ‘Mainstreaming Cancer Genetics Programme’ is a truly translational collaboration which aims to take research from the lab bench to the clinic via industry.

Testing more genes in more people

The three year study is being led by a team at The Institute of Cancer Research, London, in collaboration with The Royal Marsden Hospital, the Wellcome Trust Centre for Human Genetics and Illumina Inc. The programme aims to implement a new way to test patients for cancer gene testing. This will allow more genes to be tested in more people.

The main aim

The aim of the study is to use NGS to examine mutations in cancer predisposition genes. To date, there are around 100 known predisposition genes, but in the UK, testing for these in patients is at a very early stage and somewhat restricted.

Preventing cancer development

It is hoped that by testing for these gene mutations, early stage intervention can prevent initiation and development of disease. For example, in the UK, around 1000 women/year will develop ovarian cancer because of a mutation of the predisposition genes. If mutation testing were in place, these women could chose to have their ovaries removed by keyhole surgery after completing their families.

The cancer panel

The NGS Cancer Predisposition panel (‘CaPPa’) has been developed by the Institute of Cancer Research in collaboration with Illumina Inc. The CaPPa is now commercially available and is known as the TruSight Cancer panel. Researchers can analyse 94 cancer predisposition genes and 284 SNP’s within weeks. At this stage, the panel is for research use only, but it should be in use in the clinic in 2014.

Analysis and interpretation

As part of the Programme, a large-scale, high-throughput and accurate testing and analysis procedure will be developed. The data collected needs to be correctly analysed in order to identify mutations. Consequently, the results of the analysis need to be easily interpreted for use in the clinic and for the understanding of the patients.

A new model

The Programme also proposes a new model whereby the genetic testing can be done as a routine part of cancer treatment. Currently, all cancer predisposition gene testing is done by geneticists, but the Programme is proposing a new model so that testing in cancer patients can also be done by oncologists.

Developing the toolkit

The Programme is being piloted at the Royal Marsden NHS Foundation Trust in women with breast or ovarian cancer. By the end of the three-year programme, the team hope to have developed a ‘Toolkit’ which will cover the full process involved in testing cancer predisposition genes. This could then be used throughout the UK to benefit anyone with cancer or the predisposition genes.

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