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Thread: Senior doctors call for crackdown on home genetic testing kits

  1. #1
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    Senior doctors call for crackdown on home genetic testing kits

    False results have told women they have mutations linked to breast and ovarian cancer .

    https://www.theguardian.com/science/...c-testing-kits
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    It's a pretty poor doctor who would schedule a major surgery on the basis of a single consumer DNA test with no further confirmation. Therefore, the issue here isn't simply the quality of the tests --it's also the quality of the doctors.
    Besides British-German-Catalan, ancestry includes smaller amounts of French, Irish, Swiss, Choctaw & another NA tribe, possibly Catawba. Avatar picture is: my father, his father, & his father's father; baby is my eldest brother.

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    Surely you would only want a test for medical purposes if you had a genuine fear of having a particular inherited condition? And even then, would a private DNA test be your first move rather than explaining your fears to a physician? It is only testing companies therefore that directly and specifically target tests for medical purposes and the recipients of those tests who have not consulted a physician first that should take the blame. General DNA testing for specifically genealogical purposes should not be placed under that umbrella.

    More seriously, from a genetic genealogists point of view, are the quotes found that suggest DNA testing companies defence is the warning that they give regarding downloading raw data for uploading or passing on to others. In that, they do have a responsibility if they fail to provide adequate means to analyse the results of tests, their clients have paid for as it leaves serious testers in a kind of limbo-land, with incomplete information necessary to help triangulate results.

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    From the article:

    Recent analysis of a commercial DNA chip found that it was correct just 17% of the time when it detected a rare pathogenic BRCA mutation of the kind that’s substantially increases risk of breast and ovarian cancer.
    Say what you will about doctors, but that is a lot of unnecessary worrying for a lot of people. The DNA testing company should be made to remove the results.
    Paternal: R1b-U152 >> L2 >> FGC10543 >> PR5365, Pietro Rocca, b. 1559, Agira, Sicily, Italy
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    I would have though proper assessments at the GP level would filter out many of the false positives before seeing a specialist came into play.
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    Quote Originally Posted by R.Rocca View Post
    From the article:



    Say what you will about doctors, but that is a lot of unnecessary worrying for a lot of people. The DNA testing company should be made to remove the results.
    There are always trade offs. My mother died from ovarian cancer because it wasn't detected until stage 4. If it had been discovered earlier through a consumer DNA test, perhaps she'd be alive today at 87 instead of dead at 71. Who knows?

    The point, though, is that false positives are bad, but so are false negatives. Or no results at all, because no such testing was available. There have been people who have learned of real medical concerns through DNA testing, not just people who have worried needlessly.

    Also, at least the test I'm familiar with -- 23andMe -- repeatedly told people that there were other factors to consider than just the results of a single test. They were advised not to rely on the test results alone, but to seek consultation with a professional. If that professional failed to do his or her "due diligence", you can't place all the blame on the testing company.

    These "senior doctors" need to be addressing members of their own profession. They, of all people, should understand the limitations of consumer DNA testing and help their patients put potentially alarming results into a proper perspective. After all, even the DNA tests which a physician might order for diagnostic purposes also give both false positives and false negatives? No DNA test is 100% accurate.
    Last edited by geebee; 07-23-2019 at 01:03 PM. Reason: Clarification and expansion
    Besides British-German-Catalan, ancestry includes smaller amounts of French, Irish, Swiss, Choctaw & another NA tribe, possibly Catawba. Avatar picture is: my father, his father, & his father's father; baby is my eldest brother.

    GB

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