The Variant Annotation Workgroup at the Human Genome Sequencing Center is responsible for interpreting genomic variants that are detected in patient samples. To do so, this team reviews genomic variants and applies American College of Medical Genetics (ACMG) guidelines to interpret the pathogenicity of genetic variants in those samples. In this role, team members will work as part of a high-throughput, largely automated system to create clinical reports that deliver genomic insights back to the clinician and ultimately the patient.
- Analyzes and interprets clinical genetic test results according to ACMG variant interpretation guidelines.
- Records relevant information about genetic variants into the review interface.
- Functions as a technical writer in generating clinical reports, validation project documents, and other scientific documents/reports.
- Works closely with variant review team members under supervision of the Division Director/Lab Director.
- Maintains a clean, neat, and orderly work area.
- Adheres to Department Specific Safety Guidelines.
- Adheres to department rules and protocols as well as company regulations stated in the Employee handbook.
- Maintains a pleasant and cooperative relationship with co-workers and other departments.
- Complies with CAP, CLIA, HIPAA and all relevant Federal, State, and local regulations.
- Participates in the laboratory's quality management system.
- Bachelor's degree in a basic science or a related field.
- Two years of relevant experience.
- Master's degree in a related field
- Bachelor's degree in a chemical, physical, biological, or clinical laboratory science from an accredited institution and have at least two years of laboratory training or experience, or both, in high complexity testing within the specialty
- Previous experience with variant interpretation and familiarity with next generation sequencing is preferred
- Must meet the requirements for Testing Personnel under CLIA regulations (42 CFR, part 493)