Performs clinical data analysis and case management to support accurate interpretation of genetic findings.
Establishes phenotype-genotype correlations across a range of genetic disorders.
Investigates and interprets clinical features of genetic conditions using internal resources and professional tools.
Assumes personal responsibility for routine administrative tasks, including reviewing and editing genetic test reports, interpreting variants, and curating internal databases.
Serves as a subject matter expert for designated genes, disorders, tests, and/or workflows.
Participates in client services and communication via email, phone, or other channels to support case resolution and provider engagement.
Performs literature reviews and database searches to support variant interpretation and classification.
May assist with development of variant-, gene-, or disease-specific test information and report language.
Consistently meets or exceeds performance benchmarks.
May abstract clinical information from patient records.
Meets or exceeds productivity and error standards as assigned by team lead.
Perform other duties as assigned in support of the team or department.
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.
Proven ability to work independently and cross-functionally, with excellent verbal and written communication skills and high proficiency in internal systems and Microsoft Office 365 applications.
Demonstrated professional-level proficiency in mathematical reasoning, computer literacy, and language-based communication.
Comparable educational, clinical, or laboratory experience will be considered, including roles in regulated healthcare or diagnostic environments.
At least one year prior clinical or laboratory experience required.
Prior experience with variant curation is preferred.