1. Patients launch $1.27 million crowdfunding campaign for ME/CFS gut microbiome study.
    Check out the website, Facebook and Twitter. Join in donate and spread the word!
August 8th - What is the one thing about suffering with severe ME that the world needs to know?
Andrew Gladman brings our coverage of the Understanding & Remembrance Day for Severe ME, airing the voice of patients ...
Discuss the article on the Forums.

The era of genomic medicine is coming

Discussion in 'Other Health News and Research' started by Waverunner, May 6, 2014.

  1. Waverunner

    Waverunner Senior Member

    Messages:
    992
    Likes:
    834
    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 ….
    merylg, Helen and Valentijn like this.
  2. Valentijn

    Valentijn Activity Level: 3

    Messages:
    5,953
    Likes:
    8,131
    Amersfoort, Netherlands
    Do you think someone should tell him that the "geniuses in the lab" was really just a simple program comparing his results to a database of variations known to be problematic? I'm worried that it might deflate his self-importance a bit :p
    merylg and Waverunner like this.
  3. Helen

    Helen Senior Member

    Messages:
    453
    Likes:
    391
    Sweden
    Last edited: May 6, 2014
  4. kyzcreig

    kyzcreig

    Messages:
    60
    Likes:
    15
    It would have come sooner if it was easier to monetize. Nonrecurring 1-time purchases a good business model does not make.
  5. Waverunner

    Waverunner Senior Member

    Messages:
    992
    Likes:
    834
    Please don't. :D:D:D

    @Helen: Yes, probably a good idea.

    @kyzcreig: You make a valid point. However, there are 6-7 billion genomes left to analyse and who innovates first and offers the best prices will make the deal. In addition to this, somatic mutations occur during our whole lifetime and tumor sequencing has to be repurchased over and over again, even for the same patient and tumor (intratumoral heterogeneity). We can also be sure, that for the right price, some of us will re-sequence our genomes because of better coverage and more accurate results.
    Valentijn and merylg like this.
  6. wastwater

    wastwater Senior Member

    Messages:
    119
    Likes:
    46
    uk
    Im hoping to get my genome done free in the uk.You need a rare genetic disorder to get in.Think its called 100k genome project.
    merylg likes this.
  7. Waverunner

    Waverunner Senior Member

    Messages:
    992
    Likes:
    834
    I didn't know it but the NHS invests huge amounts of money into genomic medicine and testing. Within 5 years, all cancer patients will get their tumor sequenced and the implementation of genomic medicine is a priority of the NHS.
    merylg likes this.
  8. Sea

    Sea Senior Member

    Messages:
    668
    Likes:
    703
    NSW Australia
    I'd also like to know where he had it done, and where he thinks it is now possible to have done for $1000
  9. Waverunner

    Waverunner Senior Member

    Messages:
    992
    Likes:
    834
    I guess he had a doctor who ordered it for him. Illumina probably offers the best cost effectiveness.

    http://www.illumina.com/services/whole-genome-sequencing-services.ilmn

    Here is the whole process. Prices are still at 5k for WGS without analysis. Maybe this site is old.

    http://www.illumina.com/clinical/illumina_clinical_laboratory/igs_for_doctors/how_to_order.ilmn

    If I had the money, I would spend it on:

    "TruGenome Undiagnosed Disease Test$9,500"

    But the price is way out of line right now.
    Last edited: May 9, 2014
    merylg and Sea like this.

See more popular forum discussions.

Share This Page