Genetic testing in the UK

Putting genetic testing at the heart of the NHS could herald a “revolution” in diagnosing, treating and preventing disease, according to the government’s genetics adviser.

Prof Sir John Bell has been presenting a report on how the NHS should prepare for advances in the field.

He said missing out would come at a high cost to patients.

Health Secretary Andrew Lansley has announced plans to speed up the introduction of genetic cancer tests.

One of the problems with modern medicine is that some of the definitions of disease are too broad.

Prof Bell told the BBC: “Breast cancer has always been defined because it is a tumour in the breast.

“But if you look at the molecular detail of those cancers, some are much more similar to ovarian cancers than they are to other breast cancers, in molecular terms and in terms of their response to therapy.”

Cancer drugs are generally effective in fewer than one in three patients who take them, the report says.

The theory is that by looking at which genes are active inside a tumour, it will be possible to pick the correct treatment.

This is already happening in some cases. Bowel cancer patients with the defective gene K-RAS do not respond to some drugs, while the breast cancer drug herceptin works only if patients have a specific mutation, HER2.

One of the driving forces behind genetics in medicine is the plummeting cost of working out a patient’s genetic code. To sequence one patient’s genome once cost millions of pounds but it now costs thousands, and Prof Bell argues that in the future, the “cost could be essentially nothing”.


Prof Bell has previously accused the NHS of being “completely unprepared” for advances in the field of genetics. He has called for ministers to develop a strategy which would see the NHS adopting genetic tools, and training current and new staff in genetics.

He also wants a national centre which could store genetic information about patients who were sequenced. It would allow doctors to compare mutations in the genetic code with other patients who had the same mutation, to help plan treatment.

Prof Bell acknowledged that reforming the healthcare system to take greater account of genetics would require investment, but he added: “Innovation in any setting has to deliver a much better product or lower cost, or both, and I think genetics may be one of the things that does both.”

The government has yet to formally respond to the recommendations. However, Mr Lansley has announced plans to develop a new way of introducing and funding genetic tests for cancer.

“We want to make sure that all patients can benefit from these tests – as soon as the tests are recommended by NICE (the National Institute for Health and Clinical Excellence),” he said.

He compared the genetic code to a treasure map, saying the Xs were starting to appear, and that the promise of the field was “immense”.

The chief medical officer for England, Prof Dame Sally Davies, said genetics was “terrifically exciting” and would have an “increasingly important role” in areas such as cancer screening.

However, she said she was “quite worried” about some of the consequences, such the possibility that telling patients they had a low risk of developing lung cancer would give them a licence to smoke.

Herceptin and breast cancer

Experts have found that breast cancer drug Herceptin could keep new tumours away for more than four years.

They found that four years on, patients who received Herceptin —dubbed a ‘wonderdrug’ in 2005—are still 24 per cent less likely to have their tumours recur.

Women usually have surgery to remove the cancer and then receive chemotherapy. But after this, Herceptin can be used to stunt remaining cancer cells. It targets a protein, HER2, that fuels tumours.

When trial results for Herceptin were published at a US conference, the audience of oncologists stood up and applauded because it offered new hope for a group of women hard to treat.

Breast cancer
Breast cancer

Data revealed it cut risk of tumours recurring within a year by half.

The latest date has shown that almost 79 per cent of women were alive with no new tumours four years after treatment, against 72 per cent given chemotherapy alone.

“These results clearly show the benefit of Herceptin after chemotherapy for patients with this aggressive form of early breast cancer,” the Daily Express quoted Rachel Greig, of Breakthrough Breast Cancer, as saying.

Recent figures show one in eight women will be diagnosed with breast cancer, up from one in nine a decade ago. But even more are beating the disease thanks to earlier diagnosis and new drugs such as Herceptin.

The latest data has come from Hera trial, published in The Lancet Oncology.