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Thread: Ambiguity in self-classification of ancestry and its problem with disease risk

  1. #1
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    United Kingdom Scotland England Ireland

    Ambiguity in self-classification of ancestry and its problem with disease risk

    Self-reported ethnicity was an imperfect indicator of genetic ancestry, with 9% of individuals having >50% genetic ancestry from a lineage inconsistent with self-reported ethnicity. Limitations of self-reported ethnicity led to missed carriers in at-risk populations: for 10 ECS conditions, patients with intermediate genetic ancestry backgrounds—who did not self-report the associated ethnicity—had significantly elevated carrier risk. Finally, for 7 of the 16 conditions included in current screening guidelines, most carriers were not from the population the guideline aimed to serve.
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  2. The Following 2 Users Say Thank You to firemonkey For This Useful Post:

     geebee (06-30-2020),  Piquerobi (06-30-2020)

  3. #2
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    Pittsburgh, PA, USA
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    United Kingdom Germany Bayern Catalonia France Ireland Switzerland
    I'd like to raise the possibility that when it comes to disease risk, it's also possible that the at risk populations weren't perfectly defined, either. It isn't as if there is an "correct" or "official" ethnicity than can somehow be constrasted with a "self-reported" ethnicity.

    In my case, different testing companies have given me different percentages of different ancestries. Which is correct? Should any of them be taken as more definitive than my own self-reporting, which is based on a fairly decent understanding of my ancestry back to 3rd great grandparents in all cases -- and further in some cases?

    Granted, many people will have less knowledge of their ancestry, just as some will have greater knowledge. But the same thing is likely true for the people included in various association studies. So coming up with a precise determination of an "at risk" population has challenges of its own.

    I agree, however, that it would be better not to "guess" at risk based on someone's perceived ethnicity -- either their own perception or that of others. It's actually fairly easy and reasonably inexpensive to simply test to determine what risk alleles are actually present (or not present).
    Last edited by geebee; 06-30-2020 at 03:19 PM.
    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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