Genomic Medicine: S&T Committee Report

Lord Colwyn Excerpts

Wednesday 9th June 2010 Lords Chamber

[Lord Colwyn]

My Lords, I, too, thank the noble Lord, Lord Patel, for his effective chairing of this committee. I thank Professor Tim Aitman for his professional guidance and acknowledge the hard work of Christine Salmon Percival, Rachel Newton, Elisa Rubio, Cathleen Schulte and Cerise Burnett-Stuart. I also congratulate the noble Lord, Lord Winston, a member of our committee, on his guest appearance on the Front Bench.

This report has been described as a,

“remarkable summary of the state of science and the steps that the government should take if the NHS is to make the most of genomic medicine”.

I have been almost overwhelmed by the hundreds of documents and complexity of the information, but I am proud to have been associated with this inquiry into genomic medicine.

Ethical questions now need public discussion. I realise that any reference to “Government response” refers to the previous Administration and very much look forward to hearing my noble friend the Minister’s views on behalf of the new Government.

It seems likely that, in a few years, many babies will have their genetic code mapped at birth. One reading taken from a tiny drop of blood, as with the test for cystic fibrosis, will produce the single unit of heredity responsible for how we develop, grow, live and die. This will herald a new approach to medicine, where conditions such as diabetes and heart disease can be predicted and prevented. By examining inherited genetic variants, it is possible to identify raised risks of many conditions. Those at high risk can be screened more regularly and given advice and drugs to lower their chances of becoming ill.

This personalised medicine signals an enormous advance, revealing who is at risk, who will respond best to particular drugs and who will suffer the side effects of various treatments. These findings could lead to, for example, a genetic test of breast cancers to help doctors choose the right treatment for an individual patient, avoiding the current trial-and-error approach that in some cases exposes patients to the toxic side effects of a cancer drug that is destined to be ineffective.

The risks and social challenges posed by genetic tests and other health services sold direct to consumers have prompted various inquiries into personalised medicine. While DNA screens, personal MRI scans and internet advice services that bypass GPs have the potential to empower patients and encourage people to take greater responsibility for their health, they also have drawbacks. Genetic profiling services which screen DNA variations for links to disease traits are marketed as a way of identifying health risks that might be reduced by lifestyle changes or medical treatment. Companies sell products over the internet for a wide range of fees and many require no genetic counselling or medical supervision. Some tests have been criticised for delivering potentially misleading, unreliable or inconsistent results. There is not yet any evidence of real health benefits. The Select Committee made recommendations on the evaluation and regulation of genomic tests within and outside the NHS. The Government response to this, and to Peter Furness’s advice that the evaluation of diagnostic tests is inherently more complex and difficult than for therapeutic interventions, is vague.

The health service needs increasingly to involve the expertise of its laboratory scientists to turn a growing understanding of the human genome into better patient care. Training for NHS scientists should provide a broader grounding in genetics and equip scientists to be able to advise hospital doctors on which DNA tests might be appropriate and how to interpret the results. As part of this process, scientists may attend consultations between doctors and patients. They may play a key role, explaining to patients what the results are showing and working together as a team.

There were plans to trial a pilot scheme in the West Midlands last October before consideration of a national scheme. It was designed to help the NHS adapt to the rapid advances in genetics which could change the way that medicine is practised. As noble Lords will have heard, it is predicted that it may be possible to sequence a patient’s genome for £1,000 or less in the next two or three years, which may help doctors to provide care tailored to individual genetic profiles. The Select Committee believes that these developments require urgent reforms to NHS training and infrastructure.

Last year, there were many examples of the benefits of genetic screening tests. The first baby was born who had been screened to ensure that it was free of the breast cancer gene carried by a parent. At least 8 per cent of breast cancer cases are caused by specific genetic mutations. Identifying the rogue genes, BRCA1 and BRCA2, before the onset of disease will give people the chance to lead a lifestyle that minimises the chances of disease taking hold. Women with these defective genes are seven times more likely to develop breast cancer than those without the mutations. Faulty genes are responsible for between 5 per cent and 10 per cent of the 44,000 cases of breast cancer that occur in Britain each year.

As the noble Baroness, Lady Finlay, said, more personalised care has been promised following the discovery of a genetic signature that can determine whether breast cancer is likely to respond to common treatment. This allows doctors to predict which types of chemotherapy are most likely to benefit patients, sparing them some of the more toxic and unpleasant regimes that are unlikely to work.

The complete genetic codes of various cancers are being mapped. This information will transform treatment of the disease and has been described as the most significant milestone in cancer research in more than a decade. It is predicted that by 2020 all cancer patients will have their tumours analysed to find the genetic defects that cause them, with the information being used to select the appropriate treatments.

The Government agreed with the committee’s recommendation that the Department of Health, via NICE, instigate a programme for the evaluation of validity, utility and cost benefits of all new genomic tests for common diseases, including pharmacogenetic tests.

A genetic screening test could more than double the chances of pregnancy for women who undergo fertility treatment. A trial last year found that two out of three women having IVF became pregnant if their embryos were checked for abnormalities before being implanted, compared with less than one-third when the test was not used. The technique known as comparative genomic hybridisation checks chromosomes in the developing embryo and ensures that only those embryos with the best chance of becoming a healthy baby are used in fertility treatment.

The role of genetics in insurance has emerged as a controversial issue, with the development of increasingly reliable tests for DNA mutations and variations that are linked to disease. The possibility of an ability to sequence entire genomes at a reasonable cost within a few years and the widespread use of this test could open a new personalised approach to medicine in which diseases can be predicted and prevented, but the same data could be used by insurers to raise premiums for those whose genomes suggest an increased risk of illness, which could be a disincentive for taking tests.

The Association of British Insurers has placed a moratorium on genetic testing until 2014, with a revision due in 2011, the only exception being the Huntington’s predictive test whereby companies can demand test results for life policies worth more than £500,000 and health cover above £300,000. Privacy campaigners and some scientists have called for this to be hardened into legislation along the lines of the Genetic Information Nondiscrimination Act passed by the US in 2008. One issue that the Government response did not address was the committee’s recommendation that Government should negotiate with the ABI a new clause in the code of practice, moratorium and concordat on genetic testing and insurance that prevents insurers asking for the results of genetic tests which were carried out while the moratorium was in place. The committee said,

“we accept that action needs be taken to address a concern that the “sunset clause” of the insurance moratorium may deter individuals from taking genetic tests for fear of not being able to purchase adequate insurance cover after 2014”.

Some insurers have suggested that customers who take personal DNA tests may pay lower premiums because the results encourage a healthier lifestyle and that people who take genetic screening are likely to act on the results and therefore present a much better risk profile. Insurers may reflect this in premiums regardless of whether results are disclosed.

Currently, genetic susceptibility has reached a stage where only careful experimentation will provide the information needed to show whether testing should become part of the accepted standard of care. There is a danger of widespread testing without sufficient background information and the development of a market where products are not related to public health priorities and without benefit to the individuals and populations in greatest need.

In conclusion, having successfully managed to cut my speech from 28 minutes to l4—and now to 10—I thank the many experts and organisations who gave evidence to this fascinating inquiry. I think that it has made a significant contribution to improved health in the future. I hope that my noble friend will be able to indicate how this can be taken forward.