Clinical Genomics Variant Scientist
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About The Position
The Clinical Genomics Variant Scientist at Nationwide Children's Hospital is a pivotal role responsible for the accurate identification and classification of genetic variants detected through various genomic testing platforms. This position entails a comprehensive review of published scientific literature and databases to ensure the scientific accuracy of clinical reports and the maintenance of the laboratory's variant knowledgebase. The Variant Scientist will also play a crucial role in the development of new tests and will need to adapt their responsibilities in response to the evolving field of genomics. A strong preference is given to candidates with experience in curating oncology variants, reflecting the hospital's commitment to advancing cancer genetics and hereditary cancer disorder research. In this role, the Variant Scientist will perform technical reviews of sequencing data derived from next-generation sequencing (NGS) and Sanger-based assays, which include genome, exome, panel, and single-site variant data, as well as other molecular assay data. The ability to provide accurate and timely variant assessments is essential, requiring a thorough evaluation of published literature and clinical data to deliver precise clinical interpretations of results. The maintenance of the laboratory's variant knowledgebase is a key responsibility, along with assisting in the curation and harmonization of variant classification changes over time. The position demands a thorough and ongoing knowledge of current theories and principles in human medical genetics, cancer genetics, and hereditary cancer disorders. The Variant Scientist will also assist in the research, development, and validation of new genomic assays, demonstrating self-management skills and the ability to work efficiently and independently while fostering a collaborative team environment. Adherence to applicable laws and regulations related to clinical laboratories is crucial, as is the maintenance of knowledge regarding techniques, procedures, and protocols relevant to the position. The role also involves participation in quality assurance, continuing education programs, and departmental meetings, contributing to process development and improvement within the department.
