Reviews and classifies genetic variants using established guidelines (e.g., ACMG/AMP).
Performs literature reviews and database searches to gather evidence for variant interpretation.
Proficient in report writing and related systems.
Apply appropriate clinical ACMG criteria and corresponding approved bullet point language.
Draft test report using approved language and assemble report content.
Selects appropriate interpretation language for clinical reports.
Collaborates with clinical geneticists, bioinformaticians, and laboratory personnel to ensure timely and accurate reporting.
Documents evidence and rationale for variant classification in a clear, standardized format.
Appropriately identify complex cases that require escalation.
Seeks guidance when encountering novel scenarios.
May act as a subject matter expert for designated genes, disorders, tests, and/or processes.
Meets or exceeds productivity and error standards as assigned by team lead.
Supports team efforts to meet corporate and departmental Objectives and Key Results (OKRs).
Requirements
Master’s degree from an accredited genetic counseling program; alternatively, a Master’s or PhD in Biology, Genetics, Biotechnology, or a related field with relevant clinical experience, or an MD/DO with demonstrated expertise in human genetics
Ability to work independently and collaboratively, with strong verbal and written communication skills and high proficiency in Microsoft Office 365 applications
Demonstrated professional-level proficiency in mathematical reasoning, computer literacy, and language-based communication
Prior clinical or laboratory experience preferred but not required