Variant Scientist, Molecular Pathology

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• Analyzes, interprets, and reports genomic variant data generated by complex genomic techniques such as next generation sequencing and microarrays.
• Reviews patient medical history prior to testing, performing review of genomic data, helping maintain the active knowledgebase for variant interpretation and reporting.
• Serves as a resource person to relate correlations and interpretations of laboratory data to physicians.
• Generates information sheets for the analyzed cases using relevant clinical information to draft a comprehensive interpretive report in collaboration with the laboratory directors.
• Delivers accurate, clear, and precise genomic variant testing reports aligned to the Division's standards.
• Performs and adheres to quality control functions consistent with the Division's Quality Management Plan.
• Effectively adjusts priorities according to workload and the needs of the Division.
• Aligns to business and/or operations plans; demonstrates willingness to contribute to process improvement; participate in design and implementation of new genetic testing.
• Identifies process improvement to make process efficient and/or identify genes/targets in our genomics panels which have changed in relevance based on the literature review.
• Collaborates with laboratory operations team to improve testing processes; this might include recommending genomic databases to pull data from to facilitate analysis of testing results or streamlining the communication between the variant science team and the lab operations/faculty teams.
• Reads and interprets scientific literature and curate relevant findings in clear, concise, and precise manner.
• Participates in laboratory test design and development, including education of laboratory staff in test reporting/clinical correlation.
• Performs functions related to genomics testing and variant curation as delegated by divisional leadership.
• Collaborates effectively with faculty, bioinformatics, and laboratory operations teams for efficient delivery of clinical services.

• Master's Degree in cancer genetics, human genetics, or applicable biological science.
• PhD in cancer genetics, human genetics, or applicable biological science is preferred.
• One (1) year of experience in analyzing, curating annotating variants and writing clinical-grade reports.
• One (1) year of experience in a diagnostic laboratory including familiarity with human mutation databases, genome browsers and Human Genome Variation Society (HGVS) nomenclature.
• One (1) year of experience using computational methods, database, software tools.

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