Clinical Genomic Scientist

Job Summary

A company is looking for a Clinical Genomic Scientist- Clinical Indication.

Key Responsibilities

• Review test requisition forms and clinical notes, extracting clinical information into structured data, such as HPO terms
• Convert patient phenotypes into Human Phenotype Ontology (HPO) terminology and record prior genetic testing history
• Interpret family history from pedigrees and confirm consent answers from test requisition forms

Required Qualifications, Training, and Education

• Master's in Genetic Counseling, MD, or PhD in clinical medicine, genetics, molecular biology, or equivalent
• 0-1 years of experience with Human Phenotype Ontology (HPO)-related work for entry-level positions; 2-6 years for higher ranks
• Expertise in clinical medicine, genetics, genomics, and molecular biology
• Familiarity with American College of Medical Genetics (ACMG) variant curation guidelines is preferred
• Proficiency in Microsoft Office (Excel, Word, PowerPoint, Outlook)