2/We created the CARING clinic to provide neuropsychiatric care for kids with known or suspected neurogenetic disorders.
Among the 246 patients who got genetic testing:
🔍 41.8% had pathogenic/likely pathogenic variants
📋 62 unique genetic diagnoses identified
🤝 50 were found in just one patient
Among the 246 patients who got genetic testing:
🔍 41.8% had pathogenic/likely pathogenic variants
📋 62 unique genetic diagnoses identified
🤝 50 were found in just one patient
Comments
🧬 Cascade testing: 30.6%
👨👩👧👦 Family counseling: 22.2%
💊 Medication changes: 13.9%
🔬 Clinical trial referrals: 2.8%
https://www.sciencedirect.com/science/article/pii/S1098360024002673
Some folks who might be interested:
@jacobvorstman.bsky.social @quantpsychiatry.bsky.social @bogglerapture.bsky.social @cpschaaf.bsky.social @prismarg.bsky.social @danielmorenodeluca.bsky.social @drkkendall.bsky.social @jenforsyth.bsky.social