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GenomicWatch — screenshot 1

GenomicWatch

GenomicWatch ends the information blackout between appointments by automatically surfacing and explaining new research about a patient's genetic information.

NextGen BioAgents Hackathon - NYTechWeek

Links

Repository

github.com/KimSilvaA/genomic-watch-ai

Website

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Demo video

youtu.be/gkHZQoySPeo

Additional info

Project Slide Deck Link

www.canva.com/design/DAHL0f2G_l8/tS4b6xk9lVm8c8YXfuI3uw/edit

Team

1 member
  • RY

    Ryan German

    Owner

Overview

We built a proactive surveillance agent that monitors the genomic databases and scientific literature every single night on behalf of patients who have received a genetic variant report. This tool is built for people who have already been told they have a Variant of Uncertain Significance (VUS) or another reportable genetic variant. These are people who got a genetic result, but not an answer, because there is insufficient data and evidence to prove their variant is causing disease. They're waiting. And right now, nobody is watching the science for them between appointments. Every night, the system queries PubMed, ClinVar, ClinicalTrials.gov, and half a dozen other databases using that patient's specific variant, gene, and clinical profile. When something relevant is published such as a reclassification, a new natural history study, or a clinical trial that just opened, it doesn't sit in a journal until their next genetics visit 6-12 months later. It scores that evidence using our ERAA framework (Evidence Rigor and Actionability Assessment) and if it's a critical finding, the patient is notified within 24 hours and and review it in plain language they can actually understand. We're not replacing a genetics visit, we're making sure that when science moves, patients move with it, not a year behind it.

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