We built the first practice-level map of adult genomic medicine, showing high yield (>30% for exome!), rising demand & a clear need for updated guidelines to ensure testing is accessible, reimbursable, and routine.
Preprint 👉 bit.ly/3L9euh9

🏥Wed (Poster 3010W) - I’ll present our clinical work on how #AdultGenetics care is organized and delivered in over 8,000 adult patient visits over 8 years. We chart referral patterns, testing use & outcomes across indications, revealing how #PrecisionMedicine is practiced today.

📊Fri (Poster 4909F) - Yunjun Kang applied #GraphTheory & #MachineLearning to find hidden gene-gene links in big human data, identifying 2 novel cilium genes that validated in the wet lab; his approach could change how we uncover mechanism & therapeutic targets in human datasets

🧪Thurs (Poster 5047T) - Ekta Singh shows how different nutritional states reshape primary #cilia, altering how cells sense and respond to external cues. Her thesis work will have important implications both for rare #ciliopathy patients and for common complex disease!

🔗 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...

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.

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