Associate Variant Scientist

At GeneDx (Nasdaq: WGS), we don’t just diagnose rare diseases — we redefine what’s possible in precision medicine. With one of the world’s largest, rare disease datasets, we turn genomic data into answers that change lives and accelerate discovery. Patients and families around the world are counting on us to lead with bold ideas, relentless focus, and drive to end the diagnostic odyssey.  Visit www.genedx.com to learn how we’re making precision medicine the global standard of care.  

Summary  

The Associate Variant Scientist performs independent interpretation of DNA sequence and/or copy number variants to support the diagnosis of genetic disease, using both manual and automated methods within a collaborative team environment. Responsibilities include reviewing genomic data across multiple platforms, evaluating pathogenicity of variants, and documenting findings with clarity and precision for downstream reporting. With a focus on analytical accuracy, professional judgment, and adherence to established procedures, the Associate Variant Scientist contributes to high-quality patient care and supports departmental goals through expert variant assessment and process reliability. 

Work Schedule: Tues-Sat 2-10pm OR Sun-Thurs 2-10pm.

Job Responsibilities 

• Evaluates and assesses the pathogenicity of DNA sequence variants (SNV) and/or copy number variations (CNVs) using approved standard operating procedures (SOPs) and established guidelines (e.g., ACMG/AMP), seeking guidance for complex or novel cases.
• Reviews genomic data from multiple platforms (e.g., Sanger sequencing, next-generation sequencing, whole exome/genome sequencing, exon microarray, MLPA, qPCR, genome microarray) and completes case-level analysis with minimal supervision.
• Prepares clear, accurate, and complete documentation of findings for downstream reporting.
• Maintains high accuracy and meets workload targets while demonstrating growing proficiency in internal systems and tools used for variant analysis and documentation.
• Meets or exceeds productivity standards as assigned by team lead.
• Participates in continuing education and stays informed about emerging guidelines and best practices in variant interpretation.
• May assist with training activities by cross-checking cases or providing informal feedback to trainees under guidance.
• May assemble, edit, and review genetic test reports, perform data analysis and case management, and/or conduct clinical analysis of genomic data.
• Performs other duties as assigned to support the team or department.

Education, Experience, and Skills 

• PhD in medical technology, chemical, or biological sciences.
• Demonstrated ability to produce high-quality, error-free work across core responsibilities.
• Proven ability to work independently and collaboratively, with strong verbal and written communication skills and high proficiency in Microsoft Office 365 applications. 
• Demonstrated professional-level proficiency in mathematical reasoning, computer literacy, and language-based communication.
• Foundational knowledge or about Variant Science preferred but not required. 

Physical Demands 

• Prolonged periods of sitting or working at a computer in a home office environment.
• Occasional need to lift or move materials or equipment weighing up to 20 pounds during travel or team visits. 

Work Environment  

• Frequent use of digital communication platforms (e.g. video conferencing, email, collaboration tools).
• Ability to focus and manage complex tasks in a remote setting with multiple concurrent priorities.
• May require occasional travel to laboratory sites, corporate offices, or conferences (typically <10%).

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