Importance clinical actionable results - genetic cancer testing

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http://medicalxpress.com/news/2015-05-importance-c...

Importance of clinically actionable results in genetic panel testing for cancer


http://medicalxpress.com/news/2015-05-congressiona...


Congressional action needed to optimize regulation of genomic tests

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  • cp418
    cp418 Member Posts: 7,079
    edited May 2015

    http://medicalxpress.com/news/2015-05-reveals-flaw...


    Study reveals flaws in gene testing; results often conflict

  • farmerlucy
    farmerlucy Member Posts: 3,985
    edited May 2015

    Interesting. The cynical me wonders how active the big genetic labs have been behind the scenes with lobbying efforts. I'm pretty sure congressional action won't be for the good of the consumer. Still waiting for my results from Color Genomics. I did the test as soon as I could because I figured the big labs would find a way to shut them down. Thanks CP

  • farmerlucy
    farmerlucy Member Posts: 3,985
    edited May 2015
    OMG just sitting here on the Ipad and CBS This Morning is running a story on flawed genetic testing.
  • JohnSmith
    JohnSmith Member Posts: 651
    edited May 2015

    There's been a number of articles discussing the issue of unregulated genetic tests.
    Here's a couple others dedicated to the subject:

    Dozens of Genes in Breast Cancer Tests Lack Link to Risk

    Excerpt: Large-scale studies have shown that nine other genes... PALB2, PTEN, TP53, CHEK2, ATM, NF1, STK11, CDH1 and NBN -- probably raise risk of the disease to varying degrees.
    Most genetic tests aren't required to be approved by the U.S. Food and Drug Administration. Laboratory testing in the U.S. is overseen by the Department of Health and Human Services, which checks to see that the tests are done properly but not whether they provide useful information to doctors and patients.

    Researchers oppose unvalidated gene panel tests for cancer links

  • farmerlucy
    farmerlucy Member Posts: 3,985
    edited May 2015

    Really great articles John Smith. What are your thoughts about the reliability of testing by Color Genomics (not actual genes tested but overall company validity?

  • JohnSmith
    JohnSmith Member Posts: 651
    edited April 2017

    @Lucy

    No clue. For $250, it's a small price to pay to get some visibility. It's likely that the test will generate "VUS"
    (i.e. variants of unknown significance), which are almost always assumed benign.

    I'll quote Dr. Robert A. Nagourney of Rational Therapeutics (now known as "Nagourney Cancer Institute"), who wrote about genomic tests in his blog
    "What Can You Do to Improve Your Odds Against Cancer?" yesterday (May 28), which can be read here.

    Excerpt:
    "Should you have genomic profiling?
    If so, should it be based on a tissue biopsy, circulating cell free tumor analysis, or even the newer urine tests that measure the presence or absence of abnormal genes?
    All of these technologies have merit and over the coming years the best ones will shake out.
    Despite these tests being widely touted (and profitable for the purveyors), none of these tests have been put to formal trials that establish their capacity to influence survival. This is interesting because many of these tests have obtained insurance and Medicare coverage without even remotely rising to this standard. Nonetheless, these tests can be used for specific diseases (like lung and leukemia) where actionable targets are known to exist. Beyond that, caveat emptor (buyer beware)."

  • vlnrph
    vlnrph Member Posts: 1,632
    edited June 2015

    I looked at the Color Genomics website briefly when their announcement was first issued and concluded that they might have enough background to provide valid testing. My insurance has recently denied coverage of the panel I had drawn almost a year ago and analyzed by a well established company (describing it as experimental/investigational) but I have filed an appeal based on their policy definitions in addition to our unique family heritage situation.

    When results are available, patients can input their data into the PROMPT study pool, a consortium of four leading research centers. That kind of effort may be our best opportunity to help further define some of these uncertainties.


  • farmerlucy
    farmerlucy Member Posts: 3,985
    edited June 2015

    My insurance denied Myriad MyRisk, and said the Univ of Wash Broca panel was experimental and DEEnied it too. BCBS of OK

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