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Would you have your genes sequenced?

Fergus Walsh | 17:52 UK time, Monday, 21 June 2010

How much would you like to know about your health? That was a question I had to consider when I was offered the chance of being the first person to have all their genes sequenced by the NHS.

genome_jab.jpgIt involved giving some blood at the Royal Brompton Hospital in London.

The DNA was extracted and then all 22,000 genes mapped in a rapid sequencing machine. Genes are sections of DNA. They control simple things like eye colour and whether we are likely to go bald, but also our risk of developing some kinds of heart disease, cancer and diabetes.

After my genetic counselling, I got an overview of my genes. It was good news. The scientists didn't find anything that appears to put me at increased risk of an early death. I was pretty relieved, and of course any negative results might have had impacts for other family members.

Dr Stuart Cook, a specialist in cardiovascular genetics at the Royal Brompton summed up my results.

"In your genes we found 8,628 variations in the letters of your DNA as compared to the reference human genome. Of these, 4,318 were minor changes that would not be predicted to affect the function of the genes. The remaining 4,310 change the make up of the protein that the gene produces and 340 of these are predicted to damage the function of the gene. In addition, we found 64 changes were part of the gene was disrupted that results in one of the two copies of that gene being turned off. So, for these genes you have 50% of the gene product as compared to other individuals."

That's a lot of information. Put simply it means that although I have 64 faulty genes, it appears that I have another copy of each which is working correctly. Which is a relief.

I have a family history of heart disease, so I was slightly more worried about the results of an MRI cardiac scan, which was done at the same time. Fortunately, this too came back with a good result.

Professor Dudley Pennell, director of the biomedical research unit at Royal Brompton Hospital, points out the staggering acceleration in the speed of genetic sequencing.

"We have gone from a snail's pace to Concorde in the past 10 years." So what took hundreds of scientists more than a decade, now takes just a few hours. Professor Pennell, whose brain-child the project is, believes it will be deliver significant medical advances.

"The sequencer will bring clear benefits for patients, because we will be able to determine a genetic cause of their cardiac condition to allow accurate diagnosis and personalised treatment."

If you're interested in taking part in the Royal Brompton research projects, you should first talk to your GP. At the moment they are focussing on patients with a family history of heart disease, especially those with cardiomyopathy, or heart muscle disease.


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