Genomenon is an AI-driven genetic intelligence company on a mission to save and improve lives by making biomedical information actionable. The Manager, Product Quality (Variant Interpretation) will lead the scientific rigor and consistency of variant interpretation efforts, ensuring the accuracy of data that supports clinical decision-making and informs pharmaceutical research.
Responsibilities:
- Serve as the final scientific authority for complex or ambiguous variant interpretation cases, including conflicting clinical and functional evidence
- Apply deep expertise in ACMG/AMP guidelines to ensure accurate and defensible classifications
- Leverage clinical experience to contextualize variant interpretations and ensure clinical relevance and applicability
- Guide evaluation of functional studies and literature to support high-confidence interpretation decisions
- Support high-impact client deliverables, including clinical and pharmaceutical use cases
- Own QA/QC standards across all variant interpretation workflows
- Ensure consistent application of internal frameworks, nomenclature standards (HGVS), and interpretation criteria
- Oversee external data quality, including ClinVar submissions and discrepancy resolution
- Manage, mentor, and develop a team of QA scientists and curators
- Provide coaching on interpretation, evidence evaluation, and best practices
- Set clear performance expectations and maintain accountability for quality standards
- Design, implement, and continuously improve SOPs, QA processes, and workflows
- Identify systemic quality issues and lead solutions that scale across teams and projects
- Balance standardization with flexibility to meet diverse client and product needs
- Partner with product, engineering, and leadership to improve tools, workflows, and data quality
- Contribute to broader data and product strategy through scientific expertise
Requirements:
- 5+ years of hands-on variant interpretation experience in a clinical or equivalent setting
- Advanced degree (PhD, MS in Genetics/Genomics) or Genetic Counselor (CGC)
- Deep expertise applying ACMG/AMP guidelines in complex scenarios
- Strong experience evaluating clinical and functional evidence from scientific literature
- Proficiency in HGVS nomenclature, including normalization and variant disambiguation
- Demonstrated ability to make independent, high-confidence scientific decisions
- Experience with ClinVar submissions and resolving interpretation discrepancies
- Prior people management or strong leadership experience
- Experience developing SOPs
- Exposure to a broad range of disease areas or gene classes