Waverunner
Senior Member
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Illumina is aiming at $ 100 per genome. This would be a fantastic price. I still wonder, where he ordered the sequencing of his genome.
http://www.jeffreybraithwaite.com/new-blog/genomic-medicine
Very few people amongst the 7 billion of us on the planet have ever done what I did recently. I got directly acquainted with my genes. Well, not just acquainted – really conversant.
In point of fact, I became one of the first people in the world to have their genes read – what the technophiles call genome sequencing. That puts me in the privileged position of being in the initial 0.000005% of the population.
A person’s genome is often described as a book, with 46 chapters or chromosomes. So I had to have my blood taken, and my DNA was extracted in the lab and spliced – literally chopped up – into 300 pieces for ease of analysis. These fragments were then able to be “read”. Then they were put back into book form again, so they made sense and can be read in sequence.
In the lab, experts scanned the data for interesting features (anomalies, mutations, and what makes meme). It’s a little like searching for very scarce typing errors in Odyssey, Homer’s epic poem composed in the eighth century BC.
And then the really important thing happens – geniuses in the lab looking at these typos consider whether they are “clinically significant”. In other words, are my variations ones which have been linked to known diseases or conditions?
I now hold my own genetic profile on an iPad. I can surf my genome any time I want to, and search through a list of those clinically significant gene variations (and a, thankfully, much longer list of variations that were not found in my genes). But as surreal as the experience is, I need to put it in a bit of perspective.
What’s important to appreciate is this is not an exact science. And as many links to conditions as geneticists know about, there are probably as many that they don’t – even more. When I look at my genetic patterns I see what is known to medical science, but the technology and knowledge about which genes or combination are important to your health isn’t that good yet. Plus, just having a typing error on my genome doesn’t mean I will have a condition – or even if I do, that it will affect me. I’m not any closer to knowing the date of my own death, or what will kill me, or even which genetic combination will most influence my health.
This experience has given me a great deal to think about. The implications for people, you see, are about to become very real. Only a few years ago the commercial price for an individual’s gene sequencing was $100,000. I paid $5,000 including having access to terrific genetic advice after the results were reported to me. The cost now – even a couple of months later – is $1,000. It will become cheaper, and get faster and better: some companies like Illumina, the US company that did my genome, are aiming for a sequencing cost of $100.
Which means that this will happen to you in the future, too. Because this is quickly becoming an affordable revolution that will sweep the world. But only if you want to know. Many people won’t. It can be confronting, you see.
While being able to sit here scrolling through my genome is still sinking in, I am starting to see the potential ramifications. A future blog will explore the broader issues this experience has illuminated for me ….
http://www.jeffreybraithwaite.com/new-blog/genomic-medicine
Very few people amongst the 7 billion of us on the planet have ever done what I did recently. I got directly acquainted with my genes. Well, not just acquainted – really conversant.
In point of fact, I became one of the first people in the world to have their genes read – what the technophiles call genome sequencing. That puts me in the privileged position of being in the initial 0.000005% of the population.
A person’s genome is often described as a book, with 46 chapters or chromosomes. So I had to have my blood taken, and my DNA was extracted in the lab and spliced – literally chopped up – into 300 pieces for ease of analysis. These fragments were then able to be “read”. Then they were put back into book form again, so they made sense and can be read in sequence.
In the lab, experts scanned the data for interesting features (anomalies, mutations, and what makes meme). It’s a little like searching for very scarce typing errors in Odyssey, Homer’s epic poem composed in the eighth century BC.
And then the really important thing happens – geniuses in the lab looking at these typos consider whether they are “clinically significant”. In other words, are my variations ones which have been linked to known diseases or conditions?
I now hold my own genetic profile on an iPad. I can surf my genome any time I want to, and search through a list of those clinically significant gene variations (and a, thankfully, much longer list of variations that were not found in my genes). But as surreal as the experience is, I need to put it in a bit of perspective.
What’s important to appreciate is this is not an exact science. And as many links to conditions as geneticists know about, there are probably as many that they don’t – even more. When I look at my genetic patterns I see what is known to medical science, but the technology and knowledge about which genes or combination are important to your health isn’t that good yet. Plus, just having a typing error on my genome doesn’t mean I will have a condition – or even if I do, that it will affect me. I’m not any closer to knowing the date of my own death, or what will kill me, or even which genetic combination will most influence my health.
This experience has given me a great deal to think about. The implications for people, you see, are about to become very real. Only a few years ago the commercial price for an individual’s gene sequencing was $100,000. I paid $5,000 including having access to terrific genetic advice after the results were reported to me. The cost now – even a couple of months later – is $1,000. It will become cheaper, and get faster and better: some companies like Illumina, the US company that did my genome, are aiming for a sequencing cost of $100.
Which means that this will happen to you in the future, too. Because this is quickly becoming an affordable revolution that will sweep the world. But only if you want to know. Many people won’t. It can be confronting, you see.
While being able to sit here scrolling through my genome is still sinking in, I am starting to see the potential ramifications. A future blog will explore the broader issues this experience has illuminated for me ….
