interpreting diagnostic test results
review and summary of relevant medical literature
review and summary of clinical information
following report generation protocols to meet requirements for quality and turnaround time
assist in technical troubleshooting as needed
providing input in the development of guidelines and/or assisting with training of new Clinical Genomic Scientists
attend and provide input at trainings regarding reporting protocols applicable to the specific position or specialty
leverage awareness of current process and systems to provide suggestions for improvements
maintain expertise in clinical and technical aspects relevant to the specific position
interpret clinical diagnostic testing results in accordance with established SOPs
variant assessment and classification
independently draft clear, accurate clinical testing results
effective communication and collaboration with team colleagues; ability to regularly provide input and receive feedback in team discussions
other duties as assigned

Ph.D. in Molecular Biology, Genetics, or related scientific field or MS in Genetic Counseling from an accredited institution or MS in Genetics, Molecular Biology, Biochemistry, or other similar field of study
2+ years of experience in at least one of the following areas: primary genetics literature review, variant classification, genetic evidence summary writing, clinical report drafting, or sequencing result analysis
Thorough and ongoing knowledge of current theories and principles of human genetics
Ability to understand and evaluate genetic data and literature
Excellent written and verbal communication skills
Enthusiasm and ability to work in and contribute to a fast-paced, highly collaborative environment
Familiarity with diagnostic testing methodologies, including next-generation and Sanger sequencing, microarray, and MLPA
Maintain expertise in clinical and technical aspects related to the specific position and communicate with other internal departments to resolve/ escalate issues as appropriate
Must possess strong working knowledge of human genetics and diagnostic genetic testing concept

Clinical Genomic Scientist II, Genome Analyst

Key skills