Description
BASIC FUNCTION AND SCOPE OF THE POSITION:Investigates the pathogenicity of DNA sequence variants found real-time in patients. Customizes clinical report text in collaboration with lab directors and genetic counselors. Curates variant database with all pertinent findings.
IMPACT:
Successful performance of job duties contributes to the achieved expected TAT of testing and quality result analysis with enhanced reporting.
ESSENTIAL JOB DUTIES:
Investigate the clinical significance of gene variants found in sequencing-based assays; search online mutation databases as well as published literature or other academic resources; prepare variant assessment summaries; maintain internal variant database for different disease/assay areas. Assist Directors/Senior Directors in preparing reports and perform additional tasks when necessary.
REQUIREMENTS:
To perform this job successfully, an individual must be able to perform each essential job duty satisfactorily. The requirements listed below are representative of the knowledge, skills, and/or ability required. Reasonable accommodations may be made to enable individuals with disabilities to perform the essential functions.
EDUCATION AND/OR EXPERIENCE:
Requires molecular biology knowledge and research skills acquired through the successful completion of an advanced degree M.S. with relevant industrial experience, or a Ph.D. with thesis training in Genetics, Molecular Biology, or related scientific discipline. No clinical training or licensure required. Prior industry working experience is desirable. .