Monday, 4 August 2014

A hundred thousand genomes

You may have seen news coverage last week of the '100,000 genome project'. This is a UK initiative which will map the genomes (the genetic code) of 100,000 individuals with rare diseases. The intention is to build a data set that allows researchers to identify the genetic mutations that are important in a range of serious illnesses. The project is a massive undertaking with ambitious timescales, the plan is to complete the project in four years.
Cancer is a disease that is fundamentally related to genetic mutations so the project should be of particular value in identifying new treatments. There are already a number of oncology drugs that work by targeting known genetic mutations in some specific types of cancer, for example the drug imatinib revolutionised the treatment of Gastrointestinal Stromal Tumours (GIST for short) by targeting a genetic mutation that is essential to the growth of the most common form of this cancer. Prior to imatinib GIST was extremely difficult to treat as it does not respond to chemotherapy. Imatinib has led to a very significant increase in patient survival times even if it does not provide a durable cure to the illness. For many cancers no genetic targets for new treatments are currently known, this is the case for Leiomyosarcoma, and this is where this project has really exciting potential.

Whilst I'm very enthusiastic about this initiative I do have a concern about some of the bold statements made in the media concerning its likely impact. For instance the BBC quoted Prof Jeremy Farrar, director of the Wellcome Trust, as saying:
"We will look back in 20 years' time and think of blockbuster chemotherapy [as] a thing of the past and we'll think 'Gosh, what an era that was'."
The history of cancer research is littered with exciting initiatives that seem to offer great hope of significant advances in treatment, however these very often fall short of those initial expectations. 20 years is actually quite a short time in which to take a new treatment from discovery through to widespread clinical use so my personal view is that Prof. Farrar's predication may be somewhat optimistic, but let's look on the bright side, it would be wonderful if he is right.
I had my latest head and body scans last week, I should get the results on Thursday. Depending on what this shows I'll either continue with my current treatment or see what other options are available. In the meantime I've been continuing to have a few more issues with pain and abdominal discomfort. This is not causing me a major problem at present but it does make me feel a little less optimistic about the likely results of the scan than I was two or three weeks ago.
Katie and I and some friends of ours visited the International Bird of Prey centre in Gloucestershire a couple of weeks back. It's a great place for anyone who likes birds and even those less interested will be impressed by the flying displays that the centre runs three times a day. I've visited the centre several times before but I particularly enjoyed this visit as the flying displays featured a number of owls. Here are a few of the images I took.
This is a young eagle owl:
Short eared owl:
And finally, an ashy faced owl:

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