NHS pilots new genetic testing service for cancer patients

BMJ 2013; 346 doi: (Published 21 May 2013) Cite this as: BMJ 2013;346:f3323
  1. Krishna Chinthapalli
  1. 1BMJ

A new programme to develop genetic testing in patients with cancer will be piloted in London within the next six months.

The Mainstreaming Cancer Genetics programme has been launched with £2.7m (€3.2m; $4.1m) funding from the Wellcome Trust and will use next generation gene sequencing technology to test patients with cancer. The test, called the TruSight cancer targeted microarray panel, costs “a few hundred pounds” per patient and will analyse 97 cancer predisposition genes for mutations.

Currently no test is available for over half these genes, and the microarray panel could also replace testing for mutations in single genes, such as BRCA1. It was a BRCA1 gene mutation that led the US actor Angelina Jolie to recently undergo double mastectomy to try to prevent future breast cancer.

The new programme was announced at a press briefing on 20 May by a team from the Institute of Cancer Research, London, and the Wellcome Trust.

Nazneen Rahman, lead investigator of the programme and head of genetics at the Institute of Cancer Research, emphasised that the programme was not related to the publicity about Jolie’s decision. However, he added, “It is very important to know if a mutation in a person’s genetic blueprint has caused their cancer. It allows more personalised treatment . . . For example, such people are often at risk of getting another cancer and may choose to have more comprehensive surgery or may need different medicines.”

By 2014 the programme will pilot routine microarray panel testing in women with breast and ovarian cancers at the Royal Marsden NHS Foundation Trust. Martin Gore, the trust’s medical director, said, “We want to be able to get the genetic information we need, when we need it. This programme will help make genetic testing quicker and simpler, and the Royal Marsden is excited to be leading on its clinical implementation.”

Gore said that the programme represented a fundamental change in practice, with oncologists taking responsibility for genetic testing. “This programme has been set up partly to work out what systems and processes we need in the oncology clinics to give the patients and families [genetic] information,” he said.

Claire Turnbull, honorary consultant in cancer genetics at the Royal Marsden, said, “To provide this clinical interpretation, you need clinical doctors who have both the expertise with regard to the technologies and the informatics that generated the results but who also understand the often quite subtle and complex relationship between mutations, genes, cancer, risk, and management strategies.”

Over the next three years the team plans to roll out genetic testing for up to 35 different cancers throughout the NHS and also for screening for cancer.

Rahman said, “Importantly, identifying cancer predisposition gene mutations provides an opportunity to prevent cancers. For example, about 1000 women in the UK develop ovarian cancer each year because they have a gene mutation. If this was known before they got cancer, many may have chosen to have their ovaries removed.”

Ted Bianco, acting director of the Wellcome Trust, said in a statement, “There is much expectation about the promise of new technologies in genetics contributing to a sea change in medicine, and this programme is a significant step on the road to making that a reality.”


Cite this as: BMJ 2013;346:f3323