| Location | Phoenix, AZ |
Position Details
Department: PCH-MAIN | Lab Genomics
Location: Phoenix
Shift: Mon-Fri, Shifts Vary, 8am-5pm
Category: Laboratory/Pathology
Posting #: 1027389
Employee Type: Full-Time
Position Summary
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.
Position Duties
Interpret and classify genetic variants for all assays including NGS assays (WES, WGS, targeted panels); apply ACMG/AMP guidelines and prepare evidence-based summaries.
Review sequencing data to identify artifacts and ensure high-confidence variant calls; maintain documentation and compliance.
Support validation and launch of new NGS and bioinformatics platforms, assuring accuracy and efficiency.
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.