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Finding answers with genome or exon sequencing?

Discussion in 'General Treatment' started by joe12, Sep 6, 2015.

?

Do you think whole genome or exon sequencing is a good idea for around $3,000, would you do it?

  1. Yes

  2. No

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  1. joe12

    joe12 Senior Member

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    I suffer from a chronic pain condition covering the forehead, nose, and eyes, its known as new daily persistent headache, and also am having early syneresis of the vitreous. My pain is of burning, pressure, and non-pulsating quality with considerable photophobia. I am trying to find answers to my condition since its very debilitating, I am not function, the pain is about a 6-7/10 most of the time, and I believe its coming from an uncontrolled chronic inflammatory response initiated by either a virus or some environmental factor, I don't know. I think the inflammation is responsible for my accelerated syneresis, and this could cause a lot of problems for my vision in the near future, I could have a detached retina, or develop some degenerative retinal disease.

    I believe the root of my problem likely comes from an imbalance in certain cytokines, but I have no definitive proof, its only from the quality of the pain and how I get a lot of inflammation every time I get a new virus or am exposed to something like small amounts of mercury vapors in a dentists office, it affects me a lot, too much, so it must be coming from the additional excessive inflammation building up on the existing one.

    I have this belief that the best thing I could do right now, aside from trying some selective inflammatory inhibitors like Ibudilas, is to get either a whole genome or whole exon sequencing test. I have this belief that with this test I will be able to definitely get some good answers, or that its the most likely way to understand the mutations and mechanisms involved in this imbalance, like it could be happening with some lack of inhibitory loop, or from a lack of the enzymes to produce certain cytokines, or from mutations in signaling pathways, or lack of certain transcription factors etc. But some people have told me that they believe this kind of testing might be of little value, that they might not find anything. Since these tests are expensive and it would truly be a sacrifice on my part to save and spend the money, I truly want to be sure and have more opinions on this so that I make a better informed decision. I guess the alternative is to test spinal fluid or get functional testing, but these things are risky and expensive too, not a fan of the spinal taps. I just want to know if they are likely to find important things about inflammatory pathways, isn't this area well researched already?
     
  2. chasmyn

    chasmyn

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    I am using GeneDx for exome sequencing, and they have a financial assistance program. I paid about $200 for mine.
     
    Valentijn and joe12 like this.
  3. joe12

    joe12 Senior Member

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    wow that is really good, awesome actually. Did you ask for the whole genome price?
     

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