Genetic testing to form part of normal cancer care

20 May 2013

The Wellcome Trust is to fund a £2.7 million research programme to introduce a new patient pathway for access to genetic testing for cancer predisposition.
The three-year Mainstreaming Cancer Genetics programme is a collaborative venture between the Institute of Cancer Research (ICR), the Wellcome Trust Centre for Human Genetics, commercial sequencing company Illumina and The Royal Marsden hospital. It will attempt to develop all the elements required to implement routine genetic testing for cancer predisposition within the NHS, including sequencing, analysis, interpretation and clinical delivery. This includes use of a new test developed with Illumina; the TruSight™ Cancer test examines 94 genes and 284 SNPs associated with predisposition towards both common and rare forms of cancer, a much larger number of variants than those for which genetic testing is currently routinely available in the UK.
Knowing which genetic variants are present within cancer cells can be important for selecting the most appropriate treatments; increasing numbers of biological therapies are directed specifically at genetically defined features of tumour cells that differ from the patient’s normal cells. Identifying variants linked with increased risk of developing cancer can also be important for family members who may share this risk.
The research programme will not only pilot this test but also examine how it can be used in the context of normal cancer treatment and ordered by oncologists, although genetic testing of relatives who do not have cancer would remain the preserve of clinical geneticists. The intention is to develop a whole new model for genetic analysis of cancer patients within routine care processes, to be piloted in women with breast or ovarian cancer at The Royal Marsden NHS Foundation Trust.
Professor Peter Donnelly, Head of the Wellcome Trust Centre for Human Genetics at the University of Oxford, said: “Analysing genetic data and understanding how mutations actually affect a person is hugely complex. A real strength of this programme is that the analysts are working directly with the people in the lab generating the data and the doctors that need to use it".
Comment: This project is a very exciting step towards making genomic medicine an everyday clinical reality, by combining scientific technology and medical expertise with consideration of the practical issues needed to allow their use in normal practice in the National Health Service (NHS). This is real translation all the way from research into practice, as advocated by the PHG Foundation and utilising the same reliance on multi-disciplinary expertise to achieve it. The programme is also an important exploration of the mainstreaming of genetics into different clinical specialties as recommended by the 2012 UK policy report Genomics in Medicine, and in line with government plans to introduce genome sequencing for cancer (see previous news), although the TruSight™ Cancer test does not involve such sequencing.