Genomenon, Inc

Genetic Product Quality Specialist, Variant Interpretation

Genomenon, Inc

part-time

Posted on:

Location Type: Remote

Location: United States

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About the role

  • Perform complex and high-priority variant interpretation, including cases with conflicting clinical and functional evidence
  • Apply ACMG/AMP guidelines to ensure accurate, consistent, and defensible classifications
  • Evaluate clinical and functional literature to support interpretation decisions
  • Ensure interpretations are clinically relevant and aligned with real-world use cases
  • Contribute to high-impact client deliverables across clinical and pharmaceutical contexts
  • Apply QA/QC standards across variant interpretation workflows
  • Ensure consistent use of internal frameworks, HGVS nomenclature, and interpretation criteria
  • Support data quality efforts, including review of external data (e.g., ClinVar) and discrepancy identification
  • Contribute to refinement of SOPs, QA processes, and workflows
  • Identify quality gaps or inconsistencies and propose improvements
  • Support scalable approaches to interpretation as volume and complexity grow

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
  • Ability to work up to 20-hours per week in a remote-first environment (hours will fluctuate based on business volumes)
Benefits
  • Flexible, High-Impact Work
  • Make a Real Impact
  • Tackle Meaningful Complexity
Applicant Tracking System Keywords

Tip: use these terms in your resume and cover letter to boost ATS matches.

Hard Skills & Tools
variant interpretationACMG guidelinesAMP guidelinesHGVS nomenclaturedata quality reviewscientific literature evaluationSOP refinementQA processesdiscrepancy identificationclinical relevance assessment
Soft Skills
independent decision makingattention to detailproblem solvingcommunicationcollaborationadaptabilitycritical thinkingorganizational skillsclient deliverable contributionquality improvement
Certifications
PhD in GeneticsMS in GeneticsGenetic Counselor (CGC)