Perform clinical data analysis and case management to accurately interpret genetic findings.
Establish phenotype-genotype correlations across diverse genetic disorders.
Investigate and interpret clinical features of genetic conditions using internal resources and professional tools.
Review and finalize genetic test reports, interpret variants, and curate internal databases.
Serve as a subject matter expert for designated genes, disorders, tests, and workflows.
Communicate with clients via email, phone, or other channels to support case resolution and provider engagement.
May abstract clinical information from patient records.
Performs literature reviews and database searches to support variant interpretation and classification.
Meets or exceeds productivity and error standards as assigned by team lead.
Documents evidence and rationale for variant classification in a clear, standardized format.
Assist with development of variant-, gene-, or disease-specific test information and report language.
Perform other duties as assigned to support the team or department.
Requirements
PhD in Biology, Genetics or related field, MD or DO with more than 2 years directly relevant experience in clinical diagnostics (including fellowship)
Excellent verbal and written communication skills
Demonstrated computer skills, including ability to maintain high proficiency with internal systems and Microsoft Office Suite and the Office 365 environment
Prior experience with variant curation is preferred but not required.