Caroline Williams

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

I'm excited to share that I will be starting my PhD in Education with Drake University this fall! I hope to investigate current genetics education and how it can be improved to better support future patients and healthcare providers as they interface with genetic testing!

@dilfosaur.bsky.social have you seen Brave Bang Bravern? Gay Mechs feel totally up your alley!

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!

a pine tree with bugs hanging all around it. at the very top is a dragonfly-like meganeura with open wings, circling the base is the giant millipede arthropleura. on the branches sit various insects and circular pine cones.

Have yourself a merry little Carboniferous.
#Art #SciArt #PaleoArt #Inverts

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

AMAZING animation showcasing homologous DNA repair involving BRCA. BRCA1 and BRCA2 are so much more than “breast cancer genes”. They are crucial to this fascinating method of DNA repair, which is why we see an increased risk of cancer when they aren’t able to work as they should.

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

YouTube video by Heartland Regional Genetics Network Cómo los cromosomas y genes afectan las condiciones genéticas en los niños (Spanish)

As Heartland’s time comes to a close, I want to shout out the amazing work they’ve done to create patient friendly genetic resources in both Spanish and Marshallese. So much work and love went into these projects. I’m so lucky to have worked alongside this amazing team!

youtu.be/Ycb2aCLzJI0

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’ve got that alphabet soup brain. The thoughts and ideas are all there floating around, but I have to actively fish them out and make them into language for them to become anything concrete.

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.

What are people’s thoughts on the clinical utility of PRS? I like the idea, but I’m not comfortable with what to do if there is a discrepancy between PRS and the Tyrer-Cuzick score. #genechat

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?

Having a dog is like having a personal town crier. Is someone getting a package? Is a strange car parking on the street? It is her sworn duty to alert you to such activity.

I will never be at peace until I can climb to the top of a mountain and yell into the void that a variant of uncertain significance is not a positive result

Women who had prenatal cfDNA tests during pregnancy to screen for fetal chromosomal aneuploidies,with non-reportable or abnormal results inconsistent with a viable fetus. Follow up testing shows a normal-appearing fetus on ultrasound examination and/or a normal fetal or neonatal karyotype or CMA.

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.

This is the kind of study I’ve been waiting for!! It helps frame conversations with patients when we have actual outcomes data for these kinds of results.

National Human Genome Research Institute (NHGRI) on LinkedIn: Uh oh, your Spotify Wrapped doesn’t look great. Let’s try to do better… Uh oh, your Spotify Wrapped doesn’t look great. Let’s try to do better next year so our opossum stops getting angry. Learn more about the importance of…

Please, genomic researchers, include more diversity in your studies so that we may not anger the NHGRI opossum!

www.linkedin.com/posts/nation...

HIGHLY recommend GingerRoot for anyone in need of some feel good vibes.

Top song of 2024 was Loretta by Ginger Root, with 83 total streams. I am in the top 0.005% of listeners.

I regret nothing.

John, you’ve unintentionally rigged my Bluesky algorithm, and now it is feeding me more and more pictures of pinball machines

More often than not, it is the “uninformative” relatives that are taking the step to pursue genetic testing. They’ve watched their loved ones go through cancer, and they want to take action. They are the ones that want answers, and they deserve to have their tests covered by their insurance.

NCCN and other governing bodies have long moved on from the idea that genetic testing should only be performed on the “informative relative”, yet Evicore still clings to this idea as a way to resist paying for medically necessary genetic testing.