Thread by @J9_Austin

Here's some stuff from my talk at #WCPG2019 about polygenic risk scores (PRSs) & the public:
1st thing to know: people are already accessing their own PRSs for a wide variety of conditions.
By uploading DTC genetic testing data into 3rd party websites
#GCchat 1/n

My friend and colleague @lassefolkersen who founded impute.me has some data about how often people are accessing PRSs at his site. #WCPG2019 #GCchat 2/n

@lassefolkersen Now the thing is, we know that understanding/making meaning of even *absolute* risk is not a trivial task. PRSs are complex, and though people are accessing them, we really dont know much about how best to present them, or how people best understand them. 3/n #WCPG2019 #GCchat

@lassefolkersen We could easily think that we dont need to worry about it too much, because getting genetic test results is usually pretty benign.....right?
But, there's some REALLY interesting data coming out that suggests that we might want to rethink that assumption #WCPG2019 #GCchat 4/n

@lassefolkersen Like this stuff: ncbi.nlm.nih.gov/pubmed/22935722
ncbi.nlm.nih.gov/pubmed/29083221
ncbi.nlm.nih.gov/pubmed/24170170
nature.com/articles/s4156…
Summary: receiving high genetic risk results can affect outcomes like objective measures of cognition, cardiorespiratory physiology, and mood #WCPG2019 #GCchat 5/n

@lassefolkersen So perhaps we do need to put a bit of thought into how to communicate this well?
In some instances (e.g. 23andme PRS reports for diabetes) "absolute risk" is reported (big font on p1)....but on p6 (of a 14 page report), you find mention of the concept of AUC #WCPG2019 #GCchat 6/n

@lassefolkersen It says that the AUC for this test, for those of European ancestry (for example, and this is the highest) is 0.652..
And then it tells you what this means: #WCPG2019 #GCchat 7/n

@lassefolkersen So, if you are: a) determined enough to persevere through 6 pages of small print, & b) *quite* stats savvy, you might conclude that actually, the confidence that you can have in whatever the reported "absolute" risk was on p1 is quite small.... #WCPG2019 #GCchat 8/n

@lassefolkersen Other outlets report PRS differently - like this, where the x axis is genetic risk score measured in standard deviations from the mean, and the y axis is number of people who have a particular score for the variants tested #WCPG2019 #GCchat 9/n

@lassefolkersen @ImputeMe Again, we dont know much about how people understand this, but this stuff is complex, and as mentioned earlier, perhaps receiving genetic test results is not always as benign as we might want to think...so what to do?! #WCPG2019 #GCchat 10/n

@lassefolkersen @ImputeMe Well, I think we really need to attend to contextualizing this information for people.
Here's an example of what I mean, w/ PRS for depression as an example, where our *BEST* PRS accounts for 2.5% of the overall liability for developing depression. #WCPG2019 #GCchat 11/n

@lassefolkersen @ImputeMe Here's another example of how we might communicate the same thing, using our "jar model" (described here: aboutgeneticcounselors.com/FAQs-Resources…) as a foundation: #WCPG2019 #GCchat 12/n

@lassefolkersen @ImputeMe If you're interested in thinking about this, here's more: mdpi.com/2073-4425/10/6… Also, come to the session that @TatYanes4 @lassefolkersen @colleencaleshu and I are doing at #NSGC19 in a couple of weeks! :) #WCPG2019 #GCchat 13/13
P.S @cecilejanssens this thread was for you!