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Science

Genetics Makes Some People More Likely To Participate In Genetic Studies (arstechnica.com) 47

Posted by BeauHD from the how-about-that dept.
An anonymous reader quotes a report from Ars Technica: Stefania Benonisdottir and Augustine Kong at Oxford's Big Data Institute have just demonstrated that we can determine if genetic studies are biased using nothing but the genes of the participants. You may wonder how this was done -- quite reasonably, since we can't very well compare the genes of participants to those of non-participants. The analysis done by Kong and his student relies on the key idea that a genetic sequence that occurs more frequently in participants than in nonparticipants will also occur more frequently in the genetic regions that are shared by two related participants. Put differently, a bit of DNA that is common in the population will show up frequently in the study. But it will still only have a 50/50 chance of showing up in the child of someone who carried a copy. If a bit of DNA makes people more likely to enroll in genetic studies, it will be more common both in the overall data and among closely related family members.

So they checked the genetic sequences shared between first-degree relatives -- either parents and children or siblings (but not twins) -- in the UK Biobank. [...] This analysis used genetic data from about 500,000 people collected between 2006 and 2010. It examined roughly 500,000 genetic regions from around 20,000 pairs of first-degree relatives. They didn't find (or look for) "a gene" that correlates with participation in a study. Rather, they compared all of the shared and not-shared genetic sequences among the pairs of first-degree relatives enrolled in the study and analyzed their relative frequencies according to the above three principles. This analysis allowed them to calculate a polygenic score, a summary of how all of the genetic sequences in aggregate contribute to a trait. They deduced that genetics is positively associated with education level, with being invited to participate in further studies, and with accepting that invitation. Genetics was also associated with low BMI. Education level and BMI are both covariates that are often controlled for when using UK Biobank data. But now, no external information is needed; the ascertainment bias can be determined not from looking at other things about the participants' lives, but from their genes.

Benonisdottir, the first author of the work, explained in an email: "It has previously been reported by others that the UK Biobank is not representative with regard to many traits, including BMI and educational attainment. Thus, the fact that these traits are associated with the participation polygenic score, which does not use any information about EA and BMI but is constructed with weights from analysis using our new method of comparing shared and not-shared alleles of participating first-degree relatives, validates that our method is capturing real information about participation." This validation is essential, since their method is so new. The authors of this study propose that their methodology could be used to look for ascertainment bias using only genetic data and that taking participation data into account could help study outcomes become more accurate. They conclude by noting that "participation" is not thus just a result of someone's characteristics and traits; rather, the propensity to participate is a trait in its own right, and one with a genetic component. Being a joiner is hereditary.
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Genetics Makes Some People More Likely To Participate In Genetic Studies More

Genetics Makes Some People More Likely To Participate In Genetic Studies

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  • A lot of these twinning studies of genetics have too small a margin of error. That is, there are many confounding variables, and they are rarely all accounted for.

    • I'll go a step further - the actual study alludes to a 'unknown factor' that must be there because a correlation exists.

      That unknown factor might be... proximity to one of the UK Biobank's collection facilities.

      It is extremely premature to say there is some kind of genetic factor here.

    • > A lot of these twinning studies of genetics have too small a margin of error. That is, there are many confounding variables, and they are rarely all accounted for.

      Not untrue. Still it seems to me interesting:

      "we show that alleles that are more common in participants than nonparticipants would be further enriched in genetic segments shared by two related participants. Genome-wide analysis was performed by comparing allele frequencies in shared and not-shared genetic segments of first-degree relative pai

      • From what I see, they have identified a confounding variable (although they have not necessarily discovered its cause).

  • It's only natural (Score:3)

    by Ken_g6 ( 775014 ) on Thursday August 17, 2023 @11:28PM (#63776696)

    Natural selection bias.

    • Not participating in genetic studies, i.e. being paranoid (about privacy, etc.) perhaps is a sign of a certain metal condition and therefore might well be genetically predisposed, and hereditary as well.

    • I am reminded of the observation, "The parents of intelligent children believe in genetics", or is that a truism?

      Interestingly enough, a genetic study that I contributed to indicated that I have a high percentage of Ashkenazim and Sardinian genetic background, so who am I to argue more likely to be intelligent and long live than most...

  • Talk about spaghetti code. I mean even the genetic code to make spaghetti sucks so bad a human has to cook it. Sorry to say it, but no way God graduated with even a 3.0. His code sucks. .. Error correction and resilience grade C-. adaptability F (99.9% of all species that ever existed are extinct), robustness .. grade D. He wouldn't get a job at any FAANG company with that shit.

  • I would think it is more likely you will participate in a genetics study if you hear about it from one of your relatives that has participated than if you didn't hear about it at all, or if you didn't know someone who had also participated in it.

    That doesn't require a genetic bias to skew participation.

    • I would think it is more likely you will participate in a genetics study if you hear about it from one of your relatives that has participated than if you didn't hear about it at all, or if you didn't know someone who had also participated in it.

      That doesn't require a genetic bias to skew participation.

      Exactly this. If I were to audit the average response to a DNA test, I'm willing to bet 99% of the feedback would come down to "I thought it would be a great idea for the whole family!"...or "I got this stupid test from a family member who keeps hounding me..."

    • And closely connected cultural biases. For example, Jews are as a cultural group fond of medicine and do a lot of science. There's been a massive amount of work especially on Ashkenazic Jewish genetics, to the point where there are now standard Askhenazi specific genetic tests many do before they get married to make sure that both members of a couple don't share the same deleterious recessive alleles. Between this and the sort of relative bias you bring up, this might explain a large fraction, if not a majo

  • There may or may not be direct effects, but there will be indirect effects. For example, somebody that knows they may have inherited some health problem is more likely to be interested in such studies.

  • Multiplicity causes reduncancy. Lather. RInse. Repeat.

  • ...so if this is skewing the results of research into genetics then we need to find a solution. How do we find unwilling participants?

    • In the USA, that would be the courts. Basically, DNA test all convicts. It's already happening in many cases.

      • Well that is hardly an unbiased sample.

        It's a fact of life, virtually no study allows you select instances (especially when they're human beings!) from a uniform distribution and then get data from all of them.

        I will point out that US elections, for example, don't come close to this. (Arguably they shouldn't... but some other nations do have compulsory voting.)

        • but some other nations do have compulsory voting.)

          The one that comes to mind is Australia, but nothing prevents you from just handing in your ballot still completely empty.

          When I game out alternative systems, I think that compulsory voting is pretty much a wash, over non-compulsory - you're just adding potentially non-informed voters to the mix that includes the extremely concerned/biased voters. Technically it might help be a force for moderation - they're likely to be middle of the road types, but that's only "likely".

          Though US elections lately have bee

  • "Participating" in genetic studies requires a certain level of disposable income to piss away on genetic testing, which is also commonly done between direct family members after receiving a DNA test as a "gift" for the holidays due to marketing tactics that have existed for years now.

    No shit you're going to find some commonalities in the statistics. This is like being shocked to find every customer at the Ferrari dealership, is wealthy.

    The other part of society, knows better than to give up their DNA that

    • "Participating" in genetic studies requires a certain level of disposable income to piss away on genetic testing,

      Or if you pay people to contribute to the study, it's an unequally large incentive for poor people, since well-off people aren't motivated by a few bucks. (e.g. plasma donation). In fact an amount of money a wealthy westerner doesn't even care about could be considered un-ethical in a poor nation because it's so much to them that it amounts to economic coercion.

    • To be fair, my insurance company did it for free, let me know that I did not have any recognizable markers for diseases and also included some non-identifying information on my genetic lineage

  • One thing about all surveys and polls: you can meticulously collect data, but you are only collecting from the group of people who will respond to such queries.

    Personally, I don't typically offer my opinion for free, but I have been paid well to participate in some in-depth research studies for marketing moves and court case prep.

    • Trust is a problem. You have to trust the information won't be abused. Fairness is a problem, because it's inherently unfair to give away something for free so someone else can profit.

      Then there's communal benefit, which competes with those problems. By giving up your genome and medical history, you can help yourself and everyone else, including those who haven't been born yet, by helping medical researchers isolate genetic factors involved in various deleterious medical conditions.

      It would not surprise

  • Or maybe there's a genetic association with commenting on /., another for writing press releases, and yet another still for creating studies about genes of participants of studies. Turtles all the way down.

    Pretty hilarious.

    Now correlate those results with agreeableness, extraversion, and openness.

  • Their methodology is new, and they themselves indicate the need for additional checks. For objectivity, they had to make a large sample, using other people's data, somehow additionally motivating them. This was not done, and I think they were determined to tailor their results to fit. And this can create sampling bias in the genetic data and make it difficult to generalize the results to the entire population. When I was a student, I periodically did this if I prepared the work myself. Then I got bored, and
    • Your argument about the possible adaptation of the results for themselves does not look completely convincing. Researchers try to act independently and strive for objectivity to present the scientific community with the most reliable conclusions. After all, until their conclusions are carefully checked and cross-checked by other experts, they will not bring any recognition to the authors and will not receive confirmation of their reliability.

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