BBC BLOGS - Fergus's Medical Files

Archives for June 2010

Genome: Where were you ten years ago?

Fergus Walsh | 14:10 UK time, Friday, 25 June 2010

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One of the side-effects of being on TV is that people can watch you getting older. This is starkly illustrated whenever I order up a report from years gone by and look at my old "pieces to camera". Fewer grey hairs, a weird quiff, Paisley ties and sometimes a gruesome pair of specs stare out at me. My apologies for the fashion errors of the past and, indeed, for those of the present.

Fergus WalshIn preparing the piece I did on genetics this week, I dug out the report I did on 26 June 2000, when the completion of the first draft of the human genome was published.

As well as seeing myself as a slightly more youthful correspondent, it brought back memories of a high-pressure afternoon of editing in a satellite truck round the back of the Wellcome Trust. We had a feed of pictures from Downing Street where Tony Blair was doing a simultaneous press conference with Bill Clinton, who was at the White House.

There was much talk of a revolution in medicine and I recall President Clinton saying "Today we are learning the language in which God created life."

Few would doubt that the medical revolution still has a very long way to go. But one staggering development over the past 10 years is the speed of DNA mapping. Scientists at the Wellcome Trust Sanger Institute can sequence an entire genome in 13 hours. The first complete human genetic code took 13 years to map. That's quite some acceleration and it will soon bring gene mapping within the reach of patients.

The speed of change is neatly illustrated in the foyer of the Sanger Institute. On display is one of the machines which was used to map the first human genome. It's become a museum piece in less than a decade.

Machine in foyer at Sanger Institute

So I know what I was doing on the afternoon of 26 June 2000. How about you, and do you remember hearing the news that day?

Would you have your genes sequenced?

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

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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.

Welcome to Fergus's Medical Files

Fergus Walsh | 11:46 UK time, Monday, 21 June 2010

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A blog is re-born. Thanks to all of you who followed Fergus on Flu; I hope you will continue with the blog in its new form.

So what will you find here? As well as original posts, I hope to give some greater detail and insights into the stories I am working on elsewhere. My role is pretty broad: to look at medical research, ethics, global disease threats and more.

The blog will also provide a discussion point for these issues and I hope you will get involved. As I made clear in the past, I am not a scientist or a doctor, but a journalist. My role is to interpret often complex scientific information and relay it to a largely lay audience. If you should find any glaring errors, I'll do my best to correct them as soon as possible.

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