Job Abstract

The Variant Scientist will work independently and with minimal supervision, under the direction of the Division Director. Assigned activities include analysis, curation, annotation of data from genomic testing including next generation sequencing.  The Variant Scientist will also support the division's quality management program and contribute to meeting key performance indices.  Collaborates with the Division's faculty and operations team to support short-term goals and objectives of the Division. Performs all job duties with sensitivity and attention to the developmental issues of the patient population(s) served.

Primary Duties and Responsibilities:

• 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.

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Required Qualifications: 

• 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.