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The unreliability of SNP chip based genetic testing

Discussion in 'Laboratory and genetic testing, medical imaging' started by strategist, Apr 20, 2022.

  1. strategist

    strategist Senior Member (Voting Rights)

    Messages:
    4,505
    Genetic testing can be performed with a device called SNP chip. Not all genetic testing is done with these. Direct-to-consumer genetic testing companies like 23andME often use SNP chips. A problem with SNP chips is that they are unreliable when it comes to rare gene variants. There is the risk that patients like us, who are interested in an explanation for their health problems, could be misled by a false positive rare gene variant. Rare gene variants are more likely to be pathogenic than common ones. A false positive rare variant might look like a credible explanation for a person's ME/CFS if it happens to be associated with a disease that has some similarity to ME/CFS.

    This article says

    https://www.bmj.com/content/372/bmj.n214

    This seems like good advice.
     
    Last edited: Apr 26, 2022
    TiredSam, sebaaa, MeSci and 6 others like this.

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