Nostos Genomics
Nostos Genomics provides an AI-driven variant interpretation platform to enable genetic testing labs to deliver faster and clearer diagnoses for patients with rare genetic diseases.
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AI-driven variant interpretation platform enabling genetic testing labs to deliver fast, clear diagnoses for complex rare disease cases at scale.
Genetic testing laboratories seeking to improve diagnostic speed and accuracy for patients with rare genetic diseases.
- SaaS subscription fees (monthly/annual) - tiered by number of samples, storage, and advanced analytics
Direct SaaS portal - web-based dashboard & API for uploading FASTQ/BAM files and retrieving annotated reports · Enterprise sales team - field reps targeting large hospital networks and pharma partners · Strategic partnerships - integration with Genomenon’s Mastermind engine, and potential ties to EHR systems (e.g., Epic, Cerner)
Partners with genetic testing labs to process data and deliver genomic insights for diagnosis.
R&D & ML engineering - salaries, data-science tooling, model validation studies · Cloud compute & storage - per-sample processing costs, data retention, security compliance · Data licensing - fees for external databases (ClinVar, gnomAD, Mastermind)
AI-driven variant interpretation technology and expertise in rare disease diagnostics.
Developing and maintaining the AI platform to interpret genomic variants and support genetic testing labs.
Subscription-based onboarding - tiered plans (Starter, Professional, Enterprise) with defined sample caps and SLA response times · Dedicated success managers for enterprise accounts (training, workflow integration, regulatory support) · Community & knowledge base - online forum, FAQs, regular webinars, and a “variant-interpretation clinic” for peer
Competes in AI-driven rare disease diagnostics, differentiating by focusing on scaling clear diagnoses for complex cases.
The seven-year average diagnostic odyssey for rare diseases and the burden on patients and labs to interpret complex genetic data.
- Expand US market entry - Initiate FDA 510(k) or de Novo submission to unlock the largest clinical genomics spend; partner with a US-based
- Target geography: Are you prioritizing European markets (CE-IVD) first, or planning a simultaneous US launch?
- Clinical validation - Nostos cites a performance evaluation with Genomics England showing >50 % improvement over ACMG rules, a strong thi
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