The Clinical Genomic Scientist will play key roles in clinical operations and clinical product development at The Jackson Laboratory for Genomic Medicine. The role will support production by performing essential data analysis, variant interpretation and reporting functions. The Clinical Genomic Scientist is also responsible for significant contributions and timely completion of product development milestones established by the CLD and management. Both development and production will require the Clinical Genomic Scientist to have deep working knowledge across biotechnology, genetic pathology, computational sciences and clinical laboratory operations.
This position is for an individual who understands the different components of a genetic test and has the experience/exposure in clinical genetic testing environment.
This role is responsible for the efficient and quality execution of writing interpretative variant-, gene-, clinical- and patient-level language for genetic test reports. This includes analysis and critical evaluation of clinical sequencing data and available scientific evidence in accordance with standard operating procedures.
- Interpret germline, somatic and cfDNA sequence variants from patient samples within the context of inherited and acquired conditions to determine their clinical significance.
- Evaluate variant function, potential clinical impact and genotype-phenotype relationships for neurological and oncological disorders using scientific literature and available genomic tools.
- Write clear, communicable reports based on test results.
- Perform quality control of variant and clinical analysis, interpretations and completed reports.
- Troubleshoot dynamic and spontaneous issues related to job function.
This role is also responsible for research and development of new clinical dry lab protocols, workflows and analytical/reporting software.
- Engage in interdepartmental collaboration with the CG sequencing Laboratory, Computational Sciences and Research IT to accomplish research and product development objectives.
- Work with CLD to develop process workflows, training curricula, educational material and scientific publications.
- Additional clinical and translational development responsibilities as determined by CLD.