Genetic testing set to transform cancer care, says expert

Advances in DNA sequencing mean that high-throughput, routine genetic testing of people with cancer is now a realistic possibility.

Professor Nazneen Rahman, head of genetics at the Institute of Cancer Research (ICR) and the Cancer Genetics Clinical Unit at the Royal Marsden, says: 'Genetic testing technologies have advanced dramatically in recent years. We now have the opportunity to translate these improvements into better care for cancer patients and their relatives'.

There is growing demand for cancer gene testing from patients and medical specialties, and this is likely to continue.

Professor Rahman is leading a programme which aims to develop a new model of genetic testing to meet this increased demand. The Mainstreaming Cancer Genetics (MCG) programme is led by a team at the ICR in collaboration with the Royal Marsden, the Wellcome Trust Centre for Human Genetics and Illumina.

One option for delivering greater cancer gene testing is to increase the number of clinicians who are able to order tests, and to lower the barriers to them doing so.

Traditionally, tests have been carried out by geneticists via referral from oncology departments. Another option is to develop a mixed model (oncology-genetics), where oncologists are trained to carry out testing in people with cancer as a routine part of their oncological care. This is the alternative being developed by the MCG programme.

Professor Rahman said: 'We are working closely with colleagues in oncology to develop the clinical infrastructure, educational tools and patient support systems required to implement greater genetic testing for people with cancer'.

As a part of the programme, the Royal Marsden is currently carrying out direct BRCA testing in eligible patients through the breast and gynaecology units. Oncologists are now able to bring the test directly to the patient through their existing appointments. Patients are referred to geneticists when pathogenic mutations are detected, or further discussions are required.

Professor Rahman explains: 'We aim to develop a model of cancer gene testing that is capable of meeting the increased demand from patients and clinicians. We want to develop an accurate, reliable, scalable system that may be implemented in other NHS centres in the future'.

In time, the programme aims to increase the number of genes being tested and the number of patients who are able to benefit.

A survey of all 24 UK genetic centres found that 75 percent would like to be able to offer more cancer gene testing. Importantly, 92 percent reported increasing interest from non-genetic clinicians in their region to have more cancer gene testing, and 96 percent predicted increasing interest from patients and/or the public. Eighty-six percent were already undertaking research and pilot studies to identify ways of increasing testing in genetics or through other specialties, and 83 percent thought it would be helpful to be able to test multiple cancer genes at once, for example in a panel test.

The ICR, in collaboration with Illumina, has developed a new test, known as the TruSight Cancer panel, which can analyse 97 cancer predisposition genes within a few weeks for a few hundred pounds. It will be ready for use in the clinic in 2014.

Professor Nazneen Rahman was talking about her work prior to her presentation 'The Impact of Genomics on Cancer Services' at the British Society for Genetic Medicine's annual conference, held at the Liverpool Arena and Convention Centre on Monday 16 September 2013.