Clinical Genomic Scientist

Job Summary

Working remotely in a full-time capacity, the Clinical Genomic Scientist will review clinical notes, convert patient phenotypes into Human Phenotype Ontology (HPO) terminology, and interpret family history from pedigrees while collaborating with the WGS Clinical Indication Team.

Key responsibilities

• Review test requisition forms and clinical notes, extracting clinical information into structured data, such as HPO terms
• Record prior genetic testing history and confirm consent answers from test requisition forms
• Participate in cross-training opportunities in WGS variant curation or WGS report writing as needed

Required qualifications

• Master's degree in Genetic Counseling, MD, or PhD in clinical medicine, genetics, or molecular biology
• Expertise in clinical medicine, genetics, genomics, and molecular biology concepts
• Experience in reading and writing medical language effectively
• Proficiency in Microsoft Office applications (Excel, Word, PowerPoint, Outlook)
• Familiarity with American College of Medical Genetics (ACMG) variant curation guidelines is preferred