Clinical Genomics Scientist

Position Duties

• Variant Interpretation and Reporting
• Support the director's efforts in test development, implementation, optimization, and validation
• Contribute to the growth and development of Phoenix Children's Clinical Genomics Laboratory
• Collaborate with laboratory medical director(s), genetic counselor(s) to prepare and finalize clinical reports for patient care
• Work with bioinformatics and technical teams to troubleshoot pipelines and optimize variant analysis performance
• Contribute to curation initiatives and update panel content to enhance clinical relevance and data consistency
• Participate in internal audits, proficiency testing, and ongoing QC processes to uphold CLIA/CAP standards
• Train and mentor technologists, fellows, and bioinformaticians in variant interpretation and workflow best practices
• Stay current on emerging genomic technologies and present findings at internal meetings or conferences

Position Qualifications

• Education
• Experience
• Special Skills

Education:

• PhD or Master’s degree in Genomics, Molecular Biology, or related field.
• Coursework or certification in Human Genetics or Molecular Diagnostics.
• Continuing education in Clinical Genomics or Molecular Pathology.
• CLIA/CAP regulatory training or equivalent laboratory coursework.
• Demonstrated professional or scholarly involvement in genomics.

Experience:

• 3 or more years experience in Clinical Genomics or Molecular Diagnostics.
• Proficiency in variant interpretation and tertiary analysis software.
• Knowledge of ACMG/AMP classification and clinical reporting.
• Experience with gene curation, panel development, or workflow validation.
• Experience in a CLIA/CAP-accredited laboratory.

Special Skills:

• Strong knowledge of molecular genetics and variant databases.
• Proficiency with bioinformatics and tertiary analysis tools.
• Effective written and verbal communication skills for clinical collaboration.
• Analytical and problem-solving skills for complex data interpretation.
• Basic scripting or coding knowledge to interface with bioinformatics workflows.