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One DNA test said he was likely to get Alzheimer’s, the other said he wasn’t

80 pointsby ramzyoover 6 years ago

7 comments

m3nuover 6 years ago
Ancestry.com is known to report one of the ApoE-SNPs wrongly. I wouldn&#x27;t be surprised if this happens for more rare genes as well.<p>&gt; Word of caution to those with data from Ancestry.com: in our experience, based on data in OpenSNP and from Promethease users since 2006, Ancestry data always reports rs429358 as (T;T), even for people who&#x27;s data from other sources indicates they are (C;T).<p><a href="https:&#x2F;&#x2F;www.snpedia.com&#x2F;index.php&#x2F;APOE" rel="nofollow">https:&#x2F;&#x2F;www.snpedia.com&#x2F;index.php&#x2F;APOE</a>
gwernover 6 years ago
&gt; “It’s not about the issue being half-baked,” the doctor replied, “but what the heck do we do about it, once we know, other than create high anxiety?”<p>Loads. Are you seriously telling me that you can&#x27;t think of <i>anything</i> useful to do with this knowledge? (What about if he wants to have kids?)<p>&gt; The doctor referred Mr. Fender to a geneticist, but it turned out he did not see patients under 50 who were not symptomatic and had no family history of the disease.<p>&gt; Mr. Fender then tracked down Jill Goldman, a genetic counselor specializing in dementia at the Taub Institute at Columbia University Medical Center, who described a multistep process of counseling and confirmatory testing that’s been the standard of care for 25 years. She typically serves people at high risk of inheriting a disease, and insurance usually covers both the consultations and the tests. But it was unlikely to cover the costs in the absence of family history. “It was like a chicken-and-egg thing,” Mr. Fender observes. “I needed a medical test to prove to them that it was real, but I couldn’t get a medical test until I could prove to them that it was real.”<p>&gt; Meanwhile, he happened to see a holiday special — $69 — for Ancestry’s genetic risk test.<p>There are problems here, but they&#x27;re not with 23andMe or Ancestry.com, I don&#x27;t think.
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vedtopkarover 6 years ago
This is why the entire field of genetic counseling is a thing. Barring a few specific diseases, genetic determinants of health are very complex and poorly understood. Moreover, genetic testing, especially of the consumer sort, are not always right. Even high-accuracy clinical tests have false positives&#x2F;negatives. You need more than a web portal to work through the personal implications of genetic testing data as a patient.
faitswulffover 6 years ago
Perhaps he simply has multiple genomes? <a href="https:&#x2F;&#x2F;www.nytimes.com&#x2F;2013&#x2F;09&#x2F;17&#x2F;science&#x2F;dna-double-take.html?_r=0" rel="nofollow">https:&#x2F;&#x2F;www.nytimes.com&#x2F;2013&#x2F;09&#x2F;17&#x2F;science&#x2F;dna-double-take.h...</a><p>&quot;But scientists are discovering that — to a surprising degree — we contain genetic multitudes. Not long ago, researchers had thought it was rare for the cells in a single healthy person to differ genetically in a significant way. But scientists are finding that it’s quite common for an individual to have multiple genomes. Some people, for example, have groups of cells with mutations that are not found in the rest of the body. Some have genomes that came from other people.&quot;
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nyolfenover 6 years ago
perhaps it&#x27;s de rigeur to mention this in a thread about genetic tests, but if you&#x27;ve had it done already by one of the major providers, the service mentioned in this piece (promethease) is really fantastic.<p>if you&#x27;re lucky it won&#x27;t tell you much you don&#x27;t know, but learning about all the possible things to look out for (heightened risk of diabetes and adverse reactions to a medication, for me), sorted by magnitude, is exactly the kind of thing you&#x27;d hope to learn from personal genotyping. it&#x27;s much more granular than what is offered by eg 23andme&#x27;s health service, and is updated with new research. it&#x27;s more than worth the $5.
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Spooky23over 6 years ago
IMO feeding the anxious with fear about supposed medical maladies is why their practices are unethical.
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psychometryover 6 years ago
This is why they need to report QC scores with each SNP&#x27;s genotype. They definitely have this data.