Color Genomics | Genetic Test | 30 genes | $249

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  • JohnSmith
    JohnSmith Member Posts: 651
    edited February 2016

    Today, the White House released some details of the Precision Medicine Initiative (PMI) [#CancerMoonShot], here.
    Color Genomics was mentioned in the press release.
    Perhaps the delays have something to do with their contribution to this effort.

    As part of the White House PMI, the National Institutes of Health (NIH) announced the "PMI Cohort Program".
    This landmark research study that will expand our understanding of ways we can improve health and treat disease. It hopes to enroll 79,000 volunteers by the end of 2016, toward what it hopes will be a one-million-patient "precision medicine" study of the genetic causes of diseases.

    Anyone in the U.S. can participate!

    The details of this project have not been announced yet, but all volunteers will donate a blood sample.
    It is quite possible that this blood sample would be used for "full genome sequencing" of volunteers DNA. This would be incredible.

    Here's more resources for this PMI Cohort Program:

    1. Preparing to Launch the Precision Medicine Initiative Cohort Program

    2. Participation

    3. Frequently Asked Questions

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  • KBeee
    KBeee Member Posts: 5,109
    edited February 2016

    For $249 I am ok with delays. Results will not impact care at all. I am just curious, and not the most patient patient!!!

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  • marijen
    marijen Member Posts: 3,731
    edited February 2016

    Well.....you don't know how the results will have an impact until you get the results....

    Loopy

    Did you see John Smith's moonshot link? It's Awesome! What a surprise! Thanks John, haven't seen it anywhere else. Saved it.

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  • KBeee
    KBeee Member Posts: 5,109
    edited February 2016

    I appreciate the moonshot link. It was interesting.

    Before I could e-mail today asking about the status of my sample, I got an e-mail from them thanking me for my patience and saying that they're checking in with me to let me know that everything is proceeding on schedule & they'll let me know when my results are ready. At least if there's a test that I had to wait this long for results on, I'm glad it's not one I'm stressed about!!!

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  • BarredOwl
    BarredOwl Member Posts: 2,433
    edited February 2016

    Hi:

    Here is my layperson's guess about the length of time that may be needed to provide a report.

    Per the ASCO Policy Statement posted above: "Early experience with panel-based testing indicates that a substantial proportion of tests identify a VUS in one or more genes.(16,17) VUSs are alterations in the genetic code that may or may not affect the function of the protein. VUSs are more common in broad-panel testing both because of the number of genes tested and because of the limited understanding of the range of normal variation in some of these genes."

    When conducting multigene panel testing on a large number of genes, you will inevitably find a number of points of difference or variation between the DNA sequence of the individual and the index sequences of the test genes. Do these variations represent, for example, known pathogenic variants, known benign variants, or are they currently considered variants of unknown significance ("VUS")? Certain variants may have never been observed before by others and/or by this vendor.

    Upon initially observing variation, it will be considered a "VUS" until established otherwise, and one will expend significant effort to de-VUS or re-classify it to the extent possible. As a relative newcomer, ColorGenomics probably does not yet have a large internal database to "call" variants (i.e., is it a VUS or should it be classified as something else?). A good deal of effort is likely directed towards scouring the publicly available scientific literature and public databases for information about some variants. If these sources do not address a particular variant, then various scientific methods may be applied to provide some characterization (e.g., computational algorithms to call variants, or other methods). This takes time.

    BarredOwl

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  • KBeee
    KBeee Member Posts: 5,109
    edited February 2016

    That's kind of what I was thinking. I do know I have a VUS in chek2, but Myriad only tested me for that one specific variant (because my mom had it), and I did not have the full panel. My dad, who was adopted and does not know his family history, has also had cancer, so I'm getting this to see if anything is lurking from that side that I want to be aware of. I figure that even if everything else is normal, the VUS in CHEK2 would likely slow things a bit. I was not surprised mine took longer. I think I would have been more surprised if it was quick! Nevertheless, that doesn't stop me from checking my e-mail a few times per day to see if they're in!

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  • KBeee
    KBeee Member Posts: 5,109
    edited March 2016

    I got my results today. No known mutations. They did mention a VUS, but did not list the specific one. They said I could ask for more information on it, so I did. I anticipate it's the one I knew about, but want to be 100% sure! I was happy with my experience and will have DH do it as well since both of his parents have had cancer also...and so has he. Given the rotten cancer genetics we're given to our kids, the more we can know about it, the better prepared our can be once adults to decide if/when they get tested and make any decisions regarding monitoring, etc for themselves.


    The VUS I know about is one that I've been told is likely pathogenic, which is no surprise. It will not affect treatment decisions because of those I've already made, but it's helpful information should I have symptoms of other things down the road...assuming I live that long!

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  • Hopeful82014
    Hopeful82014 Member Posts: 3,480
    edited March 2016

    I'm glad you've finally got most of the information you were looking for, Karen. Thanks for sharing the experience with all of us.

    BTW, I think it's GREAT that you and your husband are collecting this background for your kids. I'm sure most of us would have preferred to have known about our risks sooner rather than later. Best to you and your family, Karen.

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  • farmerlucy
    farmerlucy Member Posts: 3,985
    edited March 2016

    kbee - So glad you recd your results and that you feel good about them. I know it was a long wait. Seems like the more we know the less we know with this genetic stuff. I hope you are starting to see signs of Spring though I know winter loves to dash ones hope before it gives up.

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  • loriekg
    loriekg Member Posts: 263
    edited March 2016

    Hi KBeee! Did I understand correctly, you know you have the CHEK2 mutation, but the Color Genomics didn't pick it up? Or that is that what you think the VUS is? Since CHEK2 is in the 19 genes listed as being analyzed--wouldn't you think it would be in your results if you have it? (I'm trying to decide if I want to get this for my 2 children to see if they inherited my CHEK2, but not if they would only characterize it as VUS.)

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  • Hopeful82014
    Hopeful82014 Member Posts: 3,480
    edited March 2016

    Lorie, I may be wrong but my understanding is that there many identified mutations associated with the various genes. Some are known to be deleterious, some are benign and some are VUS. Karen mentioned above that she has a known VUS in CHEK2, not a known deleterious mutation in CHEK2.

    If she had the latter and it was not identified by CG, that would be cause for concern. My reading is that they have noted a VUS but have not yet specified on which gene. Is this correct, Karen?

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  • loriekg
    loriekg Member Posts: 263
    edited March 2016

    Thank you Hopeful! I think I'm beginning to understand!

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  • Hopeful82014
    Hopeful82014 Member Posts: 3,480
    edited March 2016

    You're welcome, Lorie! Glad it was helpful.

    There's so much more to all this than we ever realized before we had to start digging into it, isn't there? On the one hand, it's pretty fascinating but on the other hand, I'd really rather NOT need to know all this!

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  • KBeee
    KBeee Member Posts: 5,109
    edited March 2016

    they told me I had a VUS, but did not initially tell me which gene, but said I could ask for the info. I asked for the it (easy to do) and they sent it an hour later. It is the same mutation I knew about, so it's all good news because there are no they known ones! It was all a very easy process. I knew about that VUS because my mom had it, so I was tested for it, but I was only tested for that specific variant. That's why I wanted the full testing. So it was all easy, smooth, and obviously accurate


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  • marijen
    marijen Member Posts: 3,731
    edited March 2016

    Kbee, did they know about the Mutation from the paperwork you filled out or did they find it on tgeir own? March 10 will be three weeks for me.

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  • KBeee
    KBeee Member Posts: 5,109
    edited March 2016

    I did not list the specific one; they came up with the exact one. It's a really long string of letters and numbers; it's a missense variant. It is technically a VUS. From what I have gathered over the past few months, many of the VUS from BRCA variants have been found to not be problematic, but the CHEK2 VUS are tending to lean more towards being damaging. It will likely take years of gathering data before most of them are further classified though. Hopefully things like the PROMPT registry will speed that up. Color did send info on the PROMPT registry with the VUS info. The genetics stuff is interesting to me, so I try to learn what I can.

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  • marijen
    marijen Member Posts: 3,731
    edited March 2016

    Thanks Kbee, I guess that's good and it will be interesting to find out more in the future, just too bad you have it. I am not expecting a negative report, gut feeling. Oh well. They'll have new tx in the years ahead too. Probably go with a heart attack anyways. ..

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  • marijen
    marijen Member Posts: 3,731
    edited March 2016

    Color Gen sent an email today - they are working on it.

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  • KBeee
    KBeee Member Posts: 5,109
    edited March 2016

    I gto my results a few days after that e-mail!

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  • marijen
    marijen Member Posts: 3,731
    edited March 2016

    hmmm, well either they're back on schedule or I've got nothing. Will let you know

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  • KBeee
    KBeee Member Posts: 5,109
    edited March 2016

    Or both!!!!!!!!!!!!!!!!!!! Hoping they find a whole lot of NOTHING! Bad luck is better than bad genes!

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  • marijen
    marijen Member Posts: 3,731
    edited March 2016

    Right!!

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  • marijen
    marijen Member Posts: 3,731
    edited March 2016

    No mutations

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  • farmerlucy
    farmerlucy Member Posts: 3,985
    edited March 2016

    Glad you received your results Marijen!

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  • Anonymous
    Anonymous Member Posts: 1,376
    edited March 2016

    Great news on your results Marijen. My brother went through with genetic testing and he is BRCA2 positive. When I had my full panel test, I was BRCA negative but I had the variance in Bard1 (predicted benign). I am shocked at his result because what are the chances we both get breast cancer and only one of us is BRCA2 positive. My genetic counselor's response was "WOW". Now my sister is going in for testing and I am praying hers is normal. The question becomes whether Bard1 caused my cancer, or if it's just a rare coincidence

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  • marijen
    marijen Member Posts: 3,731
    edited March 2016

    You just never know. I like knowing. I think they keep your sample on file incase something new turns up.

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  • KBeee
    KBeee Member Posts: 5,109
    edited March 2016

    Great news Marijen!

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  • grandma3X
    grandma3X Member Posts: 759
    edited March 2016

    Just sent for my kit after my insurance company refused to cover genetic testing for BRCA1 and 2. I made the mistake of checking the "NO" box when asked if there is a history of breast cancer in my family. Truth is, I don't know, because people in my family don't talk about breasts! My grandmother died in 1949, though, at the young age of 39. My mother was only 14 at the time and was told it was lung cancer, but now I wonder if my grandmother may have had lobular breast cancer that metasticized to her lungs. There were no mammograms back then, and if she did not feel a lump in her breast (classic lobular, for example) her doctors may not have known it was breast cancer. My father's side of the family tree is all Christian Scientists, so no telling if there were any relatives with breast cancer because they would not have gone to a doctor for treatment! Anyway, it will be good to know one way or the other if I'm a carrier since I also have 2 sisters, a daughter and granddaughter who may be affected by the outcome.

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  • marijen
    marijen Member Posts: 3,731
    edited March 2016

    There's a place where you can update your history or send an email at the website.

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  • KBeee
    KBeee Member Posts: 5,109
    edited March 2016

    grandma3X, good for you for getting tested. I truly believe knowledge is power!

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