3/ Genetic diagnoses transformed clinical care: 🧬 Cascade testing: 30.6% 👨‍👩‍👧‍👦 Family counseling: 22.2% 💊 Medication changes: 13.9% 🔬 Clinical trial referrals: 2.8% - ThreadSky

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abesterman.bsky.social • 191 days ago

3/ Genetic diagnoses transformed clinical care:
🧬 Cascade testing: 30.6%
👨‍👩‍👧‍👦 Family counseling: 22.2%
💊 Medication changes: 13.9%
🔬 Clinical trial referrals: 2.8%

Comments

abesterman.bsky.social•191 days ago

4/ This approach alleviated the "diagnostic odyssey" by streamlining care with specialists in neurology, psychiatry, genetics, and psychology.

abesterman.bsky.social•191 days ago

5/ Key takeaway: Genomics-informed care can directly impact treatment across domains for most diagnosed patients. As precision treatments evolve, identifying genetic etiologies will be pivotal.

abesterman.bsky.social•191 days ago

6/ 🌟 Clinicians must prioritize genomic medicine training beyond classic syndromes to prepare for a future of ultra-rare conditions and personalized care.

abesterman.bsky.social•191 days ago

7/ This model demonstrates feasibility but highlights the complexity of integrating genomic data into neuropsychiatric care.

abesterman.bsky.social•191 days ago

📖 Full paper:

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