Clinical Genomic Scientist

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)