Yesterday at lab meeting we went around the table with introductions for a new student. Of the 7 people in attendance, I was the only one born in the USA. Diversity and immigration are what make America, and Science, great, and my heart breaks watching these pillars of our greatness crumble.

New research out in @ajhgnews.bsky.social suggests that the implementation of genetic testing in critically ill adults has the potential to improve patient care & combat healthcare delivery disparities ft Colleen Kripke & @tdrivas.bsky.social‬ (@pennmedicine.bsky.social) www.cell.com/ajhg/fulltex...

🔗 Check out the full paper:
www.cell.com/ajhg/fulltex...

📢 Read the Science coverage:
www.science.org/content/arti...

💙 Excited to keep pushing this conversation forward!

Huge thanks to our amazing team, patients, and families who made this possible. We hope these data inform broader conversations about when and for whom genetic testing should be routine — not just for children, but for adults too.

We’re super grateful to see our work amplified by @sciencenews.bsky.social , which covered our study’s implications for ICU practice, surprise diagnoses, and what must change for genetic testing to help more adults.

📰 Read the feature:
www.science.org/content/arti...

Our study also uncovered concerning disparities: Black patients were significantly less likely than White patients to be aware of their genetic diagnosis, and this was linked to higher mortality rate, potentially contributing to worse ICU outcomes for Black patients.

Key finding: Nearly 1 in 4 critically ill young adults age 18-40 had a genetic diagnosis directly related to their illness; half of these diagnoses were unknown to the patients or their doctors. This is a wake-up call for how we think about genetic disease in adult medicine.

#genetic testing can reveal life-altering diagnoses — but it’s rarely offered to adults in the #ICU. We asked: How often do genetic conditions underlie critical illness? What do these findings mean for patient care, #disparities, and health outcomes?

📄 AJHG: www.cell.com/ajhg/fulltex...

Thrilled to share that our latest study on genetic testing in critically ill adults at @pennmedicine.bsky.social is now published in The American Journal of Human Genetics (@ajhgnews.bsky.social) -- and was featured in
@sciencenews.bsky.social!

That’s awesome! Let’s us know if you have any thoughts or feedback after the discussion!

I learned a lot working on this project: (1) rare genetic variants can be surprisingly common and affect risk for common diseases like breast cancer (2) mosaicism is important and we need to be paying more attention to it as a research community (3) collaborations introduce you to fantastic people!

We believe much of this can be explained by somatic mosaicism in the PV-Only group — our data suggests that many of these patients only have their NF1 variant in some of their cells. This might explain why they lack Neurofibromatosis features, but still carry an increased cancer risk.

Importantly, only about half of these patients have features of Neurofibromatosis on exam. However, even in the absence of Neurofibromatosis features, patients with NF1 pathogenic variants (the PV-Only group) were found to have a 50% increased odds of having a cancer diagnosis.

This was a mega-collaboration using data from the PennMedicine Biobank @pennmedicine.bsky.social, @ukbiobank.bsky.social, @natera.bsky.social, Ambry Genetics, and the All of Us Research Program to assemble a cohort of over 1 million patients, finding nearly 1 in 1,000 have a pathogenic NF1 variant.

Patience, collaboration, and perseverance pay off! Our investigation of the population prevalence of NF1 pathogenic variants is out today in @naturecomms.bsky.social! We find these variants are much more common than anticipated and confer increased risk for cancer.

www.nature.com/articles/s41...

It was heartening to see so many people standing up for #science today at #Philadelphia City Hall. At a time when it’s easy to feel powerless against a wannabe-fascist government, this was such an excellent reminder of where the real power lies — in the hands of the people. #standupfightback

2025 is here! I am so excited for Where Biology Ends and Bias Begins to be in readers' hands in just a few weeks. We have work to do, and I truly hope this book will help us move forward together. 🧬✊🏾🏳️‍🌈🏳️‍⚧️

Very cool! Yeah I don’t think it will be possible to completely account for the potentially disruptive effects of duplications without something like long read to fully characterize them, and that’s sadly not gonna be easy to come by at scale, yet

This is super cool stuff, Jonathan! Two questions that might be ignorant of details of your methods. 1. How did you consider dups that affect multiple genes? 2. There is evidence that duplications can result in gene disruption and LOF, can this be accounted for?: pmc.ncbi.nlm.nih.gov/articles/PMC...

Me: Based on what you know about me, draw a picture of what you think my current life looks like.
ChatGPT: I got this.