Clinical Genomic Scientist II, Genome Analyst
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Job Description
Clinical Genomic Scientist II interpreting diagnostic test results and summarizing medical literature. Collaborating with teams to ensure quality and turnaround time in genetic testing.
Responsibilities:
- 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
Requirements:
- 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
Benefits:
- medical
- dental
- vision
- FSA
- paid sick leave
- generous paid time off (PTO) program
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