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Part Time: Genetic Product Quality Specialist, Variant Interpretation

Remote

Our Company

Genomenon is an AI-driven genetic intelligence company on a mission to save and improve lives by making biomedical information actionable. Rare diseases and cancer affect more than 30 million people in the U.S. alone and hundreds of millions globally, yet most patients still face long diagnostic journeys and limited treatment options. Our goal is clear and ambitious: to deliver the information that shapes diagnosis and treatment for every rare disease and cancer patient.

We sit at the intersection of AI, genomics, and real world evidence. Genomenon transforms the global scientific literature into a literature derived, real world evidence (RWE) engine for precision medicine—combining large-scale AI with expert human curation to deliver clean, clinically actionable datasets. This approach fills critical gaps left by EHR and claims data, especially in rare disease and oncology, by showing how patients actually present, progress, and respond to therapy.

We turn vast, complex biomedical data—spanning genomics, clinical evidence, and scientific literature—into trusted intelligence that helps clinicians make better diagnostic and therapeutic decisions, and supports life sciences organizations in bringing better therapies to market faster.

Our work has real, measurable impact. Genomenon’s platforms and services are used by more than 250 clinical laboratories and pharma organizations worldwide to support diagnostic interpretation, variant curation, and evidence-based decision-making across the drug development lifecycle. 

Each year, our technology helps inform care for tens of thousands of patients facing rare, complex, and time-sensitive conditions—reducing uncertainty and delivering answers when they matter most.

What makes Genomenon unique is our ability to support both clinical diagnostics and pharmaceutical innovation on a shared foundation of advanced AI, deep domain expertise, and rigorously curated data.

  • In the clinic, our solutions directly influence real world patient outcomes.

  • In pharma, we enable teams to harness literature derived RWE across clinical trial development, regulatory, and commercial workflows—turning fragmented biomedical knowledge into a strategic asset and emerging as the trusted data layer for genomic diagnostics and precision therapeutics.

If you’re motivated by impact, energized by complexity, and excited to help shape the future of rare disease diagnosis and treatment, there’s no better place to do that work.

Genomenon /ge.gno.mai.non/
Source language: ancient Greek

  1. Verb
    to come into being
    to be born out of need
  2. Noun
    the leader in genomic intelligence

Our Community

Genomenon team members are thoughtful, ambitious, and mission-driven professionals working across states and countries. Our team brings together scientists, clinicians, engineers, and commercial leaders who collaborate as equals and learn from one another every day.

We value curiosity, accountability, and people who thrive in fast-moving, high-impact environments.

We are guided by our core values:

  • Always Learning: Approach challenges with curiosity and a growth mindset
  • Data-Driven: Ask a lot of questions and look to the evidence for answers
  • Humbly Confident: Aware of the value that we and others bring to the team 
  • Customer & Patient Driven: Put patients and customers first in everything we do
  • True Grit:  Embody passion and persistence, and aren’t afraid of hard work

This is a part-time role.

Position Responsibilities

Variant Interpretation & Scientific Expertise

  • 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

Quality & Standards

  • 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

Process & Continuous Improvement

  • 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

About You

You are a highly experienced variant interpretation expert who brings strong scientific judgment and a detail-oriented QA mindset. You’re comfortable working independently, making high-confidence decisions in ambiguous situations, and contributing to continuous improvement.

Required Skills & Experience

  • 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)

Preferred / Nice to Have

  • Experience with ClinVar submissions and resolving interpretation discrepancies
  • Experience developing or refining SOPs
  • Exposure to a broad range of disease areas or gene classes

What You’ll Bring

  • Strong scientific judgment, especially in ambiguous or conflicting evidence scenarios
  • A rigorous QA mindset with exceptional attention to detail
  • Ability to work independently and manage priorities in a flexible, part-time environment
  • Process-oriented thinking with a focus on scalability
  • Clear, structured communication of complex scientific concepts

Why Join Genomenon

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.

Our Commitment

Building a great company starts with building a diverse and inclusive team. We believe that people with different backgrounds, perspectives, and life experiences help us solve harder problems and build better solutions.

Genomenon is committed to inclusion across race, gender, age, religion, identity, disability, and background — in how we hire, how we work, and how we lead.

If you’re excited about the role but unsure whether you meet every qualification, we encourage you to apply. We’d rather review one more resume than miss the chance to meet someone exceptional.

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