PRISM：大规模挖掘在线健康社区中基因变异重分类需求

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Abstract:Genetic variants are routinely reclassified in ClinVar after a patient is tested, sometimes from uncertain to pathogenic, yet patient recontact is inconsistent, with no clear duty and responsibility diffused among labs, providers, and patients. Many affected people discuss their results in public online health communities that clinical recontact often does not reach. We built PRISM, an agentic large-language-model pipeline that screens these posts, checks whether the variant was later reclassified, and drafts a disclaimer-bearing outreach message, in a no-contact dry run. Across 3.9 million posts from 32 communities, agent-predicted reinterpretation-relevant discussion is rare (0.288%) but concentrated in specialist genetics communities (6.30% versus 0.10% in general medical-advice communities) and growing fivefold since 2014; PRISM surfaces 123 candidate classification differences, 5 of them from an uncertain submission to pathogenic or likely pathogenic. On a held-out set of 30 real-post drafts, a clinician judged 27 factually grounded and 15 fit to send: factual accuracy is necessary but not sufficient for clinically acceptable outreach. PRISM contributes a population-scale reinterpretation-need map with code and data to be released upon publication.

Comments:	11 pages, 2 figures; 15-page technical supplement included
Subjects:	Computation and Language (cs.CL); Artificial Intelligence (cs.AI); Computers and Society (cs.CY); Genomics (q-bio.GN)
ACM classes:	I.2.7; J.3
Cite as:	arXiv:2611.07054 [cs.CL]
	(or arXiv:2611.07054v1 [cs.CL] for this version)
	https://doi.org/10.48550/arXiv.2611.07054 arXiv-issued DOI via DataCite (pending registration)

Submission history

From: Kamalakkannan Ravi [view email]
[v1] Wed, 4 Nov 2026 19:13:45 UTC (368 KB)