The Clinical Genomics Scientist plays a critical role in variant interpretation, classification, and reporting to support clinical genomic testing. This position provides high-level scientific expertise in the analysis of genetic testing data including next-generation sequencing (NGS) such including NGS panels, whole exome sequencing (WES), and whole genome sequencing (WGS). The Clinical Genomics Scientist will work closely with Clinical Genomics physician leadership to ensure high-quality, clinically reliable genomic results and to advance the adoption of cutting-edge innovations in genomic testing. Responsibilities include supporting the director's efforts in test development, implementation, optimization, and validation, as well as contributing to the growth and development of Phoenix Children's Clinical Genomics Laboratory. This is a laboratory staff position with accountability to laboratory leadership for operational and administrative matters and to physician leadership for all clinical, scientific, and laboratory interpretation activities. The Clinical Genomics Scientist is expected to work within the priorities, direction, and defined scope established by laboratory leadership. Activities or commitments outside the defined scope of this role require advanced approval from laboratory leadership.

• Variant Interpretation and Reporting
  
  Interpret and classify genetic variants for all assays including NGS assays (WES, WGS, targeted panels); apply ACMG/AMP guidelines and prepare evidence-based summaries.
• Data Review and Quality Control
  
  Review sequencing data to identify artifacts and ensure high-confidence variant calls; maintain documentation and compliance.
• Validation and Implementation of New Technologies
  
  Support validation and launch of new NGS and bioinformatics platforms, assuring accuracy and efficiency.
• Clinical Reporting Collaboration
  
  Collaborate with laboratory medical director(s), genetic counselor(s) to prepare and finalize clinical reports for patient care.
• Workflow Development and Optimization
  
  Work with bioinformatics and technical teams to troubleshoot pipelines and optimize variant analysis performance.
• Gene and Variant Curation
  
  Contribute to curation initiatives and update panel content to enhance clinical relevance and data consistency.
• Quality Assurance and Compliance
  
  Participate in internal audits, proficiency testing, and ongoing QC processes to uphold CLIA/CAP standards.
• Training and Mentorship
  
  Train and mentor technologists, fellows, and bioinformaticians in variant interpretation and workflow best practices.
• Scientific Engagement
  
  Stay current on emerging genomic technologies and present findings at internal meetings or conferences.
• Performs miscellaneous job related duties as requested.
  

To advance hope, healing and the best healthcare for children and their families

Phoenix Children's will be the leading pediatric health system in the Southwest, nationally recognized for exceptional care, innovative research and advanced medical education.

We realize this vision by:

• Offering the most comprehensive care across ages, communities and specialties
• Investing in innovative research, including emerging treatments, tools and technologies
• Advancing education and training to shape the next generation of clinical leaders
• Advocating for the health and well-being of children and families

• We place children and families at the center of all we do
• We deliver exceptional care, every day and in every way
• We collaborate with colleagues, partners and communities to amplify our impact
• We set the standards of pediatric healthcare today, and innovate for the future
• We are accountable for making the highest quality care accessible and affordable