Genetic Variant Classification Scientist Jobs (NOW HIRING)

The Clinical Genomics Scientist plays a critical role in variant interpretation, classification, and reporting to support clinical genomic testing. This position provides high-level scientific expertise in the analysis of genetic testing data, including next-generation sequencing (NGS) panels, whole exome sequencing (WES), and whole genome sequencing (WGS). The Scientist works closely with clinical genomics physician leadership to ensure high-quality, clinically reliable genomic results and to advance the adoption of cutting-edge innovations in genomic testing.

Position Duties

• Variant Interpretation and Reporting: Interpret and classify genetic variants for all assays, including NGS assays (WES, WGS, targeted panels); apply ACMG/AMP guidelines and prepare evidence-based summaries.
• Data Review and Quality Control: Review sequencing data to identify artifacts, ensure high‑confidence variant calls, and maintain documentation and compliance.
• Validation and Implementation of New Technologies: Support validation and launch of new NGS and bioinformatics platforms, assuring accuracy and efficiency.
• Clinical Reporting Collaboration: Collaborate with laboratory medical director(s) and genetic counselor(s) to prepare and finalize clinical reports for patient care.
• Workflow Development and Optimization: Work with bioinformatics and technical teams to troubleshoot pipelines and optimize variant analysis performance.
• Gene and Variant Curation: Contribute to curation initiatives and update panel content to enhance clinical relevance and data consistency.
• Quality Assurance and Compliance: Participate in internal audits, proficiency testing, and ongoing QC processes to uphold CLIA/CAP standards.
• Training and Mentorship: Train and mentor technologists, fellows, and bioinformaticians in variant interpretation and workflow best practices.
• Scientific Engagement: Stay current on emerging genomic technologies and present findings at internal meetings or conferences.
• Miscellaneous duties as requested.

Position Qualifications

• Education
  • PhD or Master’s degree in Genomics, Molecular Biology, or related field (Required).
  • Coursework or certification in Human Genetics or Molecular Diagnostics (Preferred).
  • Continuing education in Clinical Genomics or Molecular Pathology (Preferred).
  • CLIA/CAP regulatory training or equivalent laboratory coursework (Preferred).
  • Demonstrated professional or scholarly involvement in genomics (Preferred).
• Experience
  • 3 or more years experience in Clinical Genomics or Molecular Diagnostics (Required).
  • Proficiency in variant interpretation and tertiary analysis software (Required).
  • Knowledge of ACMG/AMP classification and clinical reporting (Required).
  • Experience with gene curation, panel development, or workflow validation (Preferred).
  • Experience in a CLIA/CAP‑accredited laboratory (Preferred).
• Special Skills
  • Strong knowledge of molecular genetics and variant databases (Required).
  • Proficiency with bioinformatics and tertiary analysis tools (Required).
  • Effective written and verbal communication skills for clinical collaboration (Required).
  • Analytical and problem‑solving skills for complex data interpretation (Required).
  • Basic scripting or coding knowledge to interface with bioinformatics workflows (Preferred).
• Physical Requirements & Occupational Exposure/Risk Potential
  • Fine Motor Skills (pinching, gripping, etc) – Constantly.
  • Hearing – Constantly.
  • Pushing/Pulling – Occasionally.
  • Reaching – Constantly.
  • Sitting – Constantly.
  • Standing – Constantly.
  • Stooping/Crouching/Kneeling/Crawling – Occasionally.
  • Talking – Constantly.
  • Walking – Constantly.
  • Near Vision – Constantly.
  • Far Vision – Occasionally.
  • Color Discrimination – Constantly.
  • Use of keyboard, mouse, and/or computer equipment – Constantly.
  • Lift up to 35 pounds without assistance – Occasionally.
  • Occupational Exposure/Risk Potential – Inside office environment (Applicable).
  • Occupational Exposure/Risk Potential – Extreme noise levels (Applicable).
  • Occupational Exposure/Risk Potential – Airborne communicable diseases (Applicable).
  • Occupational Exposure/Risk Potential – Bloodborne pathogens or bodily fluid (Applicable).
  • Occupational Exposure/Risk Potential – Fumes or airborne particles (Applicable).
  • Occupational Exposure/Risk Potential – Hazardous materials exposure (Applicable).
  • Occupational Exposure/Risk Potential – Radiation exposure (Applicable).
  • Occupational Exposure/Risk Potential – Toxic or caustic chemicals (Applicable).