Phoenix Children's · 2 weeks ago
Clinical Genomics Scientist
Phoenix, AZ
Full-time
Onsite
Mid Level
3+ years expPhoenix Children's is a leading pediatric health system seeking a Clinical Genomics Scientist to support the expansion of clinical genomic services. The role involves clinical variant interpretation, classification, and reporting for next-generation sequencing-based testing, while collaborating with medical directors and lab partners to ensure high-quality genomic results.
Health CareHospital
Responsibilities
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
Perform miscellaneous job related duties as requested
Qualification
Required
PhD or Master's degree in Genomics, Molecular Biology, or related field
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
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
Preferred
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 with gene curation, panel development, or workflow validation
Experience in a CLIA/CAP-accredited laboratory
Basic scripting or coding knowledge to interface with bioinformatics workflows
Benefits
Competitive compensation
Flexibility for sign-on bonuses
Relocation
Remote work options based on qualifications and experience
Company
Phoenix Children's
Phoenix Children's is one of the nations fastest growing health systems providing high quality care to the complex patients.
5001-10000 employees
Funding
Current Stage
Late StageLeadership Team
John Nickens
President & CEO
Recent News
Press Telegram
2025-09-18
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