An edited version of this article appeared in the Daily Express.

What does the government White Paper on Genetics in the NHS mean for you?

by Steve Humphries, British Heart Foundation Professor of Cardiovascular Genetics at UCL, CEO of the LONDON IDEAS Genetics Knowledge Park

On Tuesday the government published their long awaited paper on "Genetics in the NHS" promising that over the next three years £50m of new money will be pumped into genetic science. What does this mean for you and me, and what can we expect to see happen over the next few years? We asked Professor Steve Humphries, who heads one of the Genetics Knowledge Parks set up by the government last year for his opinion.

What is Genetics Science?

It is almost exactly 50 years since the structure of DNA was described by Watson and Crick, working in England. We now understand in huge detail exactly what DNA does. It is the blueprint for how to make all the different cells in the body of a human being, and earlier this year the entire sequence was finally worked out. It's a bit like having a complete instruction manual for how to make all the parts you need and put them together to make a car. The genetic information we now have, and hope to get in the future, will tell us how it works in complete detail, and knowing this will give us a much better chance of being able to fix it when it breaks. Part of the new government money is aimed at finding out more and more about how to read the instruction manual and understand it better.

What sort of genetic tests have we got already?

There are already a number of genetic tests that are available through the NHS. Most of these are for diseases that are quite severe and affect children, and include thalassaemia, which is a blood disorder, a muscle wasting disease which usually only affects boys (Duchenne Muscular Dystrophy) and cystic fibrosis which gives children problems with digesting food and affects their lungs so that they often get infections and pneumonia.

For all of these diseases we now know exactly which gene is going wrong, and genetic tests can find the specific mutation that is causing the problem, and doctors looking after the patient can use this information. This is useful where a family wants to avoid having affected children in the future.

However, at the moment there is no cure for any of these diseases, and one of the very exciting possibilities is to use new technology called "gene therapy" to develop new cures. To do this scientists have to get a working copy of the gene into the right cells in the body of the patient so that it makes the protein that is needed. Scientists in the UK are already making major contributions to gene therapy and the White Paper promises money is to be pumped into developing gene therapy, particularly for cystic fibrosis.

What about more common diseases?

We are all at risk of common diseases of middle and older age such as cancer, heart disease, diabetes, osteoporosis, and senile dementia. Taken together, these are a major financial cost to the NHS. We now understand that all these disease are caused by having inherited some "bad" genes, but also by making the wrong choices about the way we live our lives. We all know that being overweight increases your chance of becoming diabetic, and smoking increases your chance of having cancer or heart disease, but not all overweight people or smokers develop these diseases.

So, some people are more likely to get these diseases because of the genes they've inherited and this so called "susceptibility". Susceptibility genetic testing is a very exciting area which the White Paper talks about a lot. Unfortunately, unlike diseases like cystic fibrosis or thalassaemia, these diseases are caused by lots of different genes acting together. At the moment we haven't identified all these genes so no-one can be offered a genetic test that is very useful. However, for some forms of cancer and some forms of heart disease, the disease runs in the family very strongly and genetic tests for being at risk of breast cancer, colon cancer, and heart disease are now being offered. The White Paper therefore proposes to improve and develop the services for these sorts of tests quite soon, but having a genetic profile at birth is a long way off.

Should we be getting a genetic profile on babies?

This is definitely not possible at the moment. There are about 30,000 different genes in the instruction manual, and we still don't know what most of these are doing. Since many of the common diseases are caused by having lots of different "bad" genes, knowing only some of them isn't very helpful. So, gene profiling is a long way off.

High cholesterol and early heart disease

About 100,000 people in the UK have a disease called familial hypercholesterolaemia (FH) where they have very high cholesterol in the blood. This causes them to have a much higher risk of having a heart attack than other people. Luckily, this disease can be treated by a class of drugs called statins, which lower cholesterol very well, and which have been shown in trials to stop heart attacks.

The statin drugs are widely prescribed in Britain to lower cholesterol in patients, and they have very few side effects. The problem with FH is that currently probably only 10% of the patients have been identified so far, and so most of them don't know they are at risk and haven't been offered treatment. The best way to identify these patients is by asking someone with FH about their relatives and getting the relatives to come in to a clinic to be tested.

We know that FH is caused by at least three different genes but, because of the strong genetic cause, roughly half of the relatives we contact will be normal and the other half will be affected and can be offered treatment. It's particularly important that FH patients should have a low cholesterol diet and avoid smoking, as well of course as being offered the possibility of drug treatment. The government are proposing a pilot study to be run in five different centres throughout the UK to do this family tracing of FH patients, and we hope that, if successful, this pilot will be expanded UK-wide.

What about other diseases?

Other pilot projects are proposed in the White Paper for looking at some simple forms of cancer and diabetes, and the hope is that by getting started on some of these more simple projects we will get the experience we need in order to be able to tackle the more complicated ones.

Can we use genetics to avoid drug side effects?

There is good evidence that some people respond very well to a particular drug, others really won't respond at all, and a few will have quite bad side effects. The difference between these sorts of people is in their genetic make-up. So, we now have the exciting possibility over the next five to ten years of being able to use genetic tests before a person is given a drug to make sure it is the right one for them and to get the dose correct.

As an example of this, many people are on a blood-thinning drug called Warfarin, which stops blood clots after someone has had a heart valve operation. Some people "break down" this drug much more slowly than most people because of a particular gene they've inherited, and if they're given the standard dose of Warfarin, there's a risk of them having a potentially dangerous bleed. Whether they are carrying this gene can easily be tested for at the present time, and similar tests for other drugs could be seen in the near future.

Are there any dangers in genetic testing?

As with any new technology, it could possibly be put to uses that cause concern, but these have been very much exaggerated. One of the concerns is that a DNA sample could be stolen, say, from a celebrity and private genetic information used to blackmail them. Samples could also be taken without someone knowing and used to test for paternity, and so avoid paying for childcare. DNA samples can be got from saliva, for example, on a cigarette end, or from a tissue after someone has blown their nose.

The White Paper outlines a new law that will be put before Parliament to make getting DNA like this a criminal offence. However, DNA is very useful for the police in trying to track down criminals who have left their DNA fingerprints at the scene of a crime.

Currently over two million "DNA fingerprints" of people with a criminal record are stored on the police database. This means that if any DNA is picked up at a new crime scene, just like a real fingerprint, it can be matched with a record, and the criminal can be identified.

Another concern is that once people have got their genetic profile, this may give them information that they really don't want to hear, such as the fact that they are likely to get a disease which is currently incurable, such as senile dementia. This would obviously be very upsetting and some people might find this depressing to the point of suicide. However, since most of the diseases where we are likely to be testing are actually curable by drugs, or the chances of getting the disease are much less if you change your lifestyle, such as stopping smoking and losing weight, this isn't a big concern for most people.

There is also the worry that employers or insurance companies might get this information and discriminate against people with "risky" genes. At the moment, insurance companies have declared a moratorium on the use of all but one or two specific genetic tests when selling life insurance, but further legislation on these issues might possibly be needed in the future. The White Paper has asked the Human Genetics Commission to have a look at these issues over the next year or so.

Who will give these genetic tests?

At the moment we simply don't have enough trained doctors and nurses to give people the information they will need before having the test or to tell them the results afterwards. The White Paper proposes to increase the numbers of people in the laboratories to do the testing and to train GPs and nurses in the new genetic information revolution.

So what is the benefit for me?

In this century, genetic information is likely to have as big an impact on the lives of people in the UK as computers did in the last. It can't be used at the moment to get a risk profile for your baby, but it will help to identify some people at risk of some causes of heart disease and cancer so they can be properly treated, and it may soon allow better prescribing of some drugs. As well as the immediate benefit to these patients, these changes will also help reduce costs for the NHS.

Where can I get more information about this?

The six Genetics Knowledge Parks that have been set up by the government are all involved in explaining to the public the great benefits and potential risks that are involved in genetic testing. The Parks are in Newcastle, Cardiff, Manchester, Oxford, Cambridge and London.