Role Description
Genomenon is seeking a highly experienced variant interpretation expert for a part-time role. The responsibilities include:
-
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.
Additionally, the role involves:
-
Applying QA/QC standards across variant interpretation workflows.
-
Ensuring consistent use of internal frameworks, HGVS nomenclature, and interpretation criteria.
-
Supporting data quality efforts, including review of external data (e.g., ClinVar) and discrepancy identification.
-
Contributing to refinement of SOPs, QA processes, and workflows.
-
Identifying quality gaps or inconsistencies and proposing improvements.
-
Supporting scalable approaches to interpretation as volume and complexity grow.
Qualifications
-
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).
Requirements
-
Experience with ClinVar submissions and resolving interpretation discrepancies (preferred).
-
Experience developing or refining SOPs (preferred).
-
Exposure to a broad range of disease areas or gene classes (preferred).
Benefits
-
Contribute to Scientific Quality at Scale.
-
Support high-quality variant interpretation across products, clients, and public data resources.
-
Flexible, High-Impact Work.
-
Engage in meaningful scientific work in a part-time, contract capacity.
-
Make a Real Impact.
-
Your work directly supports clinical decisions, patient outcomes, and pharmaceutical research.
-
Tackle Meaningful Complexity.
-
Work on challenging problems at the intersection of genomics, data, and real-world application.