On 2022-07-10 23:39:20, user Charles Warden wrote:
Hi,
Thank you very much for posting this preprint.
I consider the topics raised by this study to be important and interesting.
However, I have some comments and questions:
1) I agree that confirmation bias can be a contributing factor. However, I think true limitations in utility are also important. So, I am not sure if I completely agree with the statement "When results were not consistent with participant’s personal or family history, many participants found reasons to dismiss or discredit these results. This indicates a role for confirmation bias in responses to [self-initiated] PRS." For example, I might really want to understand the genetic basis for a disease, but the percent heritability explained by the PRS may be low and I could therefore be disappointed with the usefulness of a PRS due to a discordant result.
I have a blog post where I share my impute.me scores (along with others):
https://cdwscience.blogspot.com/2019/12/prs-results-from-my-genomics-data.html
I don't know if I would exactly say my response was "negative," but I certainly got the impression the PRS that I saw may have limited utility. In that sense, my view of the method was not positive, even if it did not evoke a strong emotional "negative" response.
Within that blog post, “ulcerative colitis” would be an example where there were different PRS for the same disease but very different percentiles (for the same SNP chip). So, I would consider that an example of the reaction that is described being due to something other than confirmation bias.
2) Did the interviewers respond when there were possible points of misunderstanding during the interview process?
It was acknowledged as a limitation in the discussion: "the researchers did not have access to participant’s PRS results and were unable to evaluate people’s understanding of their results".
However, it seems like that could be important. For example, there is a quote "Unfortunately, I do regret getting a PRS… I would have rather not known. I like uncertainty". Assuming that there were appropriate limitations to communicate, I believe a response from the interviewer might cause that quote to no longer reflect the subject’s opinion.
In general, there appears to be a noticeable emphasis on mental health in the article. My opinion is that this is an area where limitations are particularly important. If it helps, I think there are some additional details in this blog post for the book Blueprint.
In terms of my own impute.me results, I thought the "anxiety" PRS seemed reasonable (to the best of my ability to assess that). However, I also thought changes in conditions over time were important, and I thought there was potential for misuse.
3a) I think it is a minor point, but I don't remember receiving an invite to join a Zoom meeting for a discussion about my impute.me results.
I hope that I was one of the 209 candidates, but I was not sure if I could confirm that. I also noticed mention of categories like “medium” or “low” for one quote referencing a z-score of 2.5, but I only saw the continuous score distribution in the screenshots from my blog post.
3b) Perhaps more importantly, I tried to go back to sign in to check if I missed something.
In the Folkersen et al. 2020 paper, the link provided is for https://www.impute.me/. However, that link currently re-directs to a Nucleus website (https://mynucleus.com/).
Can you please provide some more information about the re-direction of the impute.me link?
For example, I submitted an e-mail to register on the new website, but I don't think I can see my earlier results anymore?
Additionally, I was confused when I couldn’t find the GitHub code provided with that paper: https://github.com/lassefolkersen/impute-me
4) Finally, but I don't think either of the 2 models that I see ("dismissed medical concerns" and "medical distrust") are a great description for myself. I think something like "curiosity" and "critical assessment" would be more appropriate for myself.
For example, I wouldn't say I distrust the healthcare system or medical research broadly, but I do think feedback and engagement is important. Thus, when I encounter problems, I submit reports to FDA MedWatch. Likewise, I contribute data/experience to projects like PatientsLikeMe.
Thanks Again,<br />
Charles