Director, Variant Analysis

Role Overview

• Provide strategic, technical, and operational leadership for clinical interpretation and reporting activities across core technologies including whole genome sequencing (WGS), whole exome sequencing (WES), targeted NGS panels, and chromosomal microarray (CMA)
• Serve as a subject matter expert in genomic testing workflows, interpretation frameworks, and clinical reporting standards, ensuring scientific rigor, clinical relevance, and regulatory compliance
• Oversee day-to-day operational performance, including production scheduling, capacity planning, process health monitoring, and escalation of operational incidents
• Establish, optimize, and scale end-to-end workflows for clinical interpretation and reporting, applying continuous improvement methodologies to improve efficiency, quality, and throughput
• Define, implement, and monitor key operational metrics to assess performance, identify risk, and communicate status, trends, and opportunities to senior leadership
• Ensure delivery of high-quality clinical reports that meet established turnaround time, accuracy, and quality benchmarks
• Lead diagnosis and resolution of complex production issues, driving root-cause analysis and implementation of sustainable corrective and preventive actions
• Develop and execute operational strategies and goals aligned with broader organizational objectives and key results
• Act as an individual-contributor Director with significant strategic and operational scope, with the expectation of evolving people leadership responsibilities as the organization scales
• Mentor and coach scientists, genetic counselors, and operational partners, fostering a culture of continuous learning, accountability, and scientific excellence
• Collaborate cross-functionally with Laboratory, Bioinformatics, Product, Quality, Regulatory, IT, and Clinical Development teams to support successful launch of new assays, tools, and initiatives
• Provide input into strategic planning, organizational design, and capacity modeling through data-driven insights
• Foster a culture of operational excellence, best practices, and professional growth
• Perform other duties as assigned in support of departmental and company goals

Requirements

• PhD in Biological Sciences, Molecular Genetics, Human Genetics, or a related field, with a minimum of 5 years of related work experience; or Master’s degree in Genetic Counseling, Biological Sciences, Molecular Genetics, Human Genetics, or a related field, with a minimum of 6 years of related work experience; or Bachelor’s degree in Genetics, Biological Sciences, Molecular Genetics, Human Genetics, or a related field, with a minimum of 7 years of related work experience
• Clinical genomics or molecular diagnostics experience in a CLIA-certified or similarly regulated laboratory environment
• Variant interpretation, curation, and clinical reporting for NGS-based assays, including WGS, WES, and/or targeted panels
• Operational leadership supporting clinical interpretation or reporting workflows, including capacity planning, quality management, and process optimization
• Cross-functional collaboration with laboratory, bioinformatics, product, quality, regulatory, or clinical development teams
• Experience supporting the development, launch, or scaling of clinical genomic assays or interpretation programs
• Minimum of 5 years of experience in operational leadership, including workflow optimization, capacity planning, performance metrics, and cross-functional execution
• Strong understanding of clinical reporting operations, quality systems, and regulated laboratory environments (e.g., CLIA, CAP)
• Proven ability to operate at a Director level, balancing strategic planning with hands-on operational leadership
• Strong analytical, problem-solving, and communication skills, with the ability to translate technical and operational data into executive-level insights
• Demonstrated technical expertise with whole genome sequencing (WGS) and whole exome sequencing (WES), including strong understanding of clinical interpretation frameworks, reporting standards, and end-to-end workflows
• Knowledge of advanced copy number detection methodologies and copy number variant (CNV) interpretation across CMA and NGS-based platforms

Benefits

• Medical
• Dental
• Vision
• Life
• STD/LTD
• 401(k)
• Paid Time Off (PTO) or Flexible Time Off (FTO)
• Tuition Reimbursement
• Employee Stock Purchase Plan