I will never forgive them 😭 please! I just want the himbo!

Fiona Sangster has several long form videos dissecting characters from Stardew Valley! They will keep you entertained for a long time, whether you know the game or not!

Honestly, seems like a cool horse. I’d curry him for sure

Probably not in this specific situation? It would be difficult to include unknown environmental impacts into the model and a lot of these conditions are so rare that we may not have enough genomes to adequately train the AI.

That’s a fair point. I think what terms we use should probably be chosen by the groups they refer to, which I know is complicated by differing opinions on preferred terms within groups.

Check out their YouTube if you need genetics materials for your Spanish and Marshallese patients! They have versions with English subtitles so you can know what information is being shared. #genechat

Biological race is a construct, but the socioeconomic impacts of racial thought is real. It sounds like this project is working to ensure that minority groups have the same access to genetic care as everyone else. It didn’t sound like they were using race to guide diagnoses or treatments?

And variable expressivity! We can see huge variations in how even monogenic conditions are expressed in different people. Some of that could be due to allelic heterogeneity, but it’s most likely multifactorial factors influencing how monogenic conditions present!

I have patients who have a hard time getting insurance to cover high risk screening based on a high Tyrer-Cuzick, so I have low confidence that patients with a low TC but elevated PRS would be able to get coverage. Then I’ve given them this high risk number with nothing to do about it.

I think a new word could be useful for the sake of discussions. If we use “life”, then most discussions will remain centered on whether or not it is life. If there’s a new word then maybe it would allow us to move on to other discussions that need to be had?

I can’t get past the paywall for the study, but here is the eligibility requirements

That’s a good point. My understanding of the NIH’s program is that they were specifically recruiting patients with non-reportables that were concerning for cancer (ex. Multiple breaks on multiple chromosomes). I think that’s why the sample size is so small (107).

This also speaks to the importance of labs reporting the specific kind of no call they receive. Some NIPT testing labs will simply report “no call” for everything from suspected cancer to low ff in order to appeal to OB providers that aren’t comfortable handling more complicated no call results.