abesterman.bsky.social
Child & Adolescent Psychiatry | Psychiatric Genetics| Neurodevelopmental Disorders | Precision Medicine
35 posts
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194 following
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8/
Huge thanks to our patient & family, who generously agreed to share their story.
Grateful to the incredible team across psychiatry, genetics, and genomics that made this possible.
🔗 Read the full paper here:
psychiatryonline.org/doi/epdf/10....
@sebatlab.bsky.social
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Key takeaway:
🧠 For psychiatrists treating neurodevelopmental disorders, genomic tools like LRS can transform diagnosis and care.
But using them well requires multidisciplinary collaboration—and thoughtful communication.
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Genetic diagnoses like this do more than end the “diagnostic odyssey.”
They open the door to:
🧠 Understanding biology
🧬 Family cascade testing
👨👩👧👦 Reproductive planning
🧪 Natural history studies
💊 And—someday—targeted therapies
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We also found something fascinating:
The mother carried the rearrangement in mosaic form—not present in all her cells.
This helped explain her lack of symptoms and clarified inheritance for family counseling.
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This rearrangement resulted in RFX3 haploinsufficiency—a loss of function consistent with the patient’s behavioral and developmental profile.
A diagnosis that could not have been made with short-read WGS alone.
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🧬 Enter long-read sequencing (LRS):
Unlike short reads (~150bp), LRS captures sequences 10,000–20,000bp long—ideal for detecting complex rearrangements.
In this case, LRS uncovered:
🔁 A duplication
🧱 An insertion
✂️ A deletion
…all disrupting RFX3.
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A 17-year-old with autism, intellectual disability, & escalating psychiatric symptoms was hospitalized.
Initial whole-genome sequencing (WGS) found a possible duplication in RFX3, a brain gene linked to neurodevelopment.
But the picture was incomplete.
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📚 This paper is a resource, a roadmap, and a call to action for psychiatrists, psychologists, social workers, nurses, and beyond.
Read it here:
🔗 psychiatryonline.org/doi/10.1176/...
@danielmorenodeluca.bsky.social
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⚠️ Finally, we discuss the fraught history—and real risks—of genetic stigma and misuse. From eugenics to polygenic embryo screening, we urge clinicians to tread carefully and ethically.
Science ≠ policy.
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🧠 Genetic counseling is more than testing. It’s about empowering patients with knowledge, reducing stigma, and making informed choices.
We champion integration of genetic counseling into psychiatric training.
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💊 What about pharmacogenetics?
We separate hype from evidence, outlining when pharmacogenetic data should influence psychotropic prescribing—and when it shouldn't.
Spoiler: Not all “green box” meds are created equal.
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🧬 Rare variants can be game-changing. Genome sequencing can yield answers in up to 30% of patients with ASD or intellectual disability.
Our paper outlines how to interpret these findings—and when to test.
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🌱 Polygenic scores (PGS) are exciting but have real limitations—especially for diverse populations. Clinicians must approach with nuance and avoid deterministic interpretations. Equity matters.
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📊 Psychiatric disorders are highly heritable—but that doesn’t mean they're genetically determined. We stress a balanced model: integrating genes and environment for holistic care.
Mental illness ≠ destiny.
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🔍 We cover key topics:
• Familial aggregation
• Common & rare genetic variants
• Polygenic scores
• Epigenetics
• Gene-environment interactions
• Pharmacogenomics
• Genetic counseling
• Ethical issues
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Psychiatric genetics has rapidly evolved. But what should mental health clinicians actually know—and do—with this knowledge?
This paper is our consensus-based guide to integrating psychiatric genetics into real-world clinical care.
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5/ We need to do a better job of public education about #bipolardisorder so people understand that it is more than just "normal ups and downs".
@doctorveera.bsky.social @psychunseen.bsky.social @j9austin.bsky.social @markruffalo.bsky.social
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4/ This is consistent with clinical experience; bipolar disorder may be the most mis/over-diagnosed psych disorder. Psychiatrists spend a lot of time 'undiagnosing' it. Both clinical experience and genetics converge on this same message very nicely.
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3/ For MDD, PTSD, BPD the order is flipped, that is the least reliable diagnostic methods of diagnosing BP (e.g. self-report, community dx) are most strongly correlated w/ these dx. This suggests that self- or community-diagnosed bipolar may actually be a high % of people with other psych disorders
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2/ Take a close look at the order of diagnostic cohorts (trait 1) along the strength of genetic correlation (rg) between disorders.
For schizophrenia, the disorder with strong evidence linking it to bipolar disorder, a highly reliable diagnosis of BP1 is most strongly genetically corr (high rg)
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📖 Full paper:
www.sciencedirect.com/science/arti...
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
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7/ This model demonstrates feasibility but highlights the complexity of integrating genomic data into neuropsychiatric care.
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6/ 🌟 Clinicians must prioritize genomic medicine training beyond classic syndromes to prepare for a future of ultra-rare conditions and personalized care.
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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.
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4/ This approach alleviated the "diagnostic odyssey" by streamlining care with specialists in neurology, psychiatry, genetics, and psychology.
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3/ Genetic diagnoses transformed clinical care:
🧬 Cascade testing: 30.6%
👨👩👧👦 Family counseling: 22.2%
💊 Medication changes: 13.9%
🔬 Clinical trial referrals: 2.8%
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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
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Congrats! Well deserved!