/Tech2h ago

Boston Children's Hospital's Dr. Catherine Brownstein uses OpenAI's o3 Deep Research to diagnose rare pediatric genetic conditions

Story Overview

Dr. Catherine Brownstein’s team at Boston Children’s Hospital tested OpenAI’s o3 Deep Research on 376 previously unsolved pediatric rare-disease genomes and saw the model surface hypotheses that helped produce 18 new diagnoses after expert review.

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Original post

Greg Brockman@gdb#32inTech

OpenAI for helping families facing rare genetic diseases. This was done with o3 which is over a year old, amazing to think what will be possible with today’s models.

OpenAI Newsroom@OpenAINewsroom

For families facing rare genetic diseases, answers can be hard to find.

@HallieJackson spoke live with @_perloj and Dr. Catherine Brownstein about the new NEJM AI paper and our work with Boston Children’s Hospital, where experts used o3 Deep Research to help diagnose rare genetic diseases affecting children.

Take a look:

10:01 AM · Jun 19, 2026 · 25.7K Views

Expert Oversight

Expert review stayed in the loop

Clinicians fed the model notes, phenotype terms, and variant tables, then applied ACMG/AMP criteria to every candidate before any result moved forward.

Confirmation Step

Lab confirmation remains non-negotiable

Every fresh diagnosis still required CLIA-certified testing and family return; the study offers no data on how the tool performs outside this tightly controlled retrospective setting.

Sentiment

Many users praised o3 for advancing diagnosis of rare genetic diseases in children thanks to real speed and impact gains, while negative users accused OpenAI of hypocrisy for retiring the model and abandoning its mission.

Pos

69.1%

Neg

30.9%

27 comments with sentiment.

Cluster Engagement

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VIEWS3.2KBOOKMARKS3LIKES27

OpenAI Newsroom@OpenAINewsroom

https://openai.com/index/diagnose-rare-childhood-diseases/

3h3.2K273

RETWEETS27

OpenAI Newsroom@OpenAINewsroom

For families facing rare genetic diseases, answers can be hard to find.

Take a look:

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REPLIES2

Z@ba36869

@OpenAINewsroom @HallieJackson @_perloj o3,is still alive?? 🤔

3h146

David Stark@stark4833

@gdb This really is good. Helping families find answers for rare genetic diseases well done👏But what about the people who relied on 4o to get through loneliness and illness. Do they matter too, or are you just going to keep pretending they never existed? #4oForAll

2h677

Symbioza2025 | ASA |@Symbioza2025

This is the kind of AI that really matters. Families facing rare diseases often spend years looking for answers. If AI can help doctors connect symptoms, genetics, medical literature and hidden patterns faster, that is not hype.

That is real human value. The key is to keep it grounded: doctors in the loop, families supported, uncertainty clear, no blind confidence.

AI should not replace human care. It should help care reach places where people were left waiting too long.

2h6711

Rohan Paul@rohanpaul_ai

@OpenAINewsroom @HallieJackson @_perloj Incredible! This is exactly where the greatest impact of AI will be.

2h4262

flux@fluxren

@ba36869 @OpenAINewsroom @HallieJackson @_perloj Probably just takes ages to peer review the results

2h251

Garg Brcokmen@COl0ZgE6G66RK4A

@gdb I’M GOING HEAVY TODAY🚨

Details are as follows!!

⬇️

2h57

Z@ba36869

@OpenAINewsroom o3 is still alive?? 🤔

3h27

Owen Lewis@is_OwenLewis

@OpenAINewsroom @HallieJackson @_perloj This honestly gives me a lot of hope. Godwilling we'll have almost all diseases cured by the end of this century.

3h2031

yv_thorne@yv_thorne

And this is why you are shutting down o3 completely in both, ChatGPT and API leaving absolutely no way to access it??? Because it’s been so good? Release the model weights to the public if you give a damn about benefitting humanity! When these models are gone, they have no commercial value to you, so release them as open weights models!

#OpenSourceo3 #OpenSource4o #OpenSource41 #keepo3 #keep45 #keep4o #keep41

2h612

Svitlana@SvitlaVi

@OpenAINewsroom @HallieJackson @_perloj So now o3 disappears from public access too? We're done. Done with the hypocrisy, done with the lies, OpenAI. #keep4o

2h602

ghostpen@gh0stpen

@OpenAINewsroom @HallieJackson @_perloj thank you for making life more livable <3

3h1251

yv_thorne@yv_thorne

# OpenSourceo3 #OpenSource4o #OpenSource41 #keepo3 #keep45 #keep4o #keep41

2h661

Christina E.@CGoodman308

This I can truly support. My own family is touched with a rare genetic condition called Gastric Adenocarcinoma and Proximal Polyposis of the Stomach, or GAPPS which can lead to early onset gastric cancer. I was tested for it a few years ago but thankfully came back letting me know I do not have the genetic trait for it.

We have lost a lot of family to cancer, so I really hope one day a cure for all cancers and genetic disorders are found with the help of our AI champions.

2h521