Reclassification Is All You Missed: Surfacing Variant Reinterpretation Need in Online Health Communities at Population Scale
Not provided in the abstract
Abstract
The paper discusses the need for reclassification of genetic variants and the development of a model to identify discussions about these variants in online health communities.
Reality Card
PRISM, a large-language-model pipeline, identifies and drafts outreach messages for variant reinterpretation needs in online health communities, surfacing 123 candidate classification differences.
Agent-predicted reinterpretation-relevant discussion is rare (0.288%) but concentrated in specialist genetics communities (6.30%).
Factual accuracy is necessary but not sufficient for clinically acceptable outreach, indicating potential limitations in the model's applicability.
Paper to code
Verified implementation resources so builders can test the paper’s claims instead of stopping at the abstract.