Clinical Genomics Scientist
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Position Summary
Posting Note: The role operates on a primarily Monday–Friday day shift (approximately 9:00 a.m.–5:00 p.m.) with flexibility based on clinical reporting needs and follows a hybrid work model combining on-site and remote work. There is no patient interaction. The ideal candidate brings experience in clinical variant interpretation within a CAP/CLIA environment, strong scientific judgment, and the ability to communicate complex genomic findings clearly and effectively. This position reports to laboratory leadership within a small, multidisciplinary team and is evaluated on turnaround time, report productivity, regulatory compliance, collaboration, and contributions to continuous improvement. Competitive compensation is offered, with flexibility for sign-on bonuses, relocation, and remote work options based on qualifications and experience
The Clinical Genomic Scientist is a newly created role supporting the expansion of clinical genomic services within a growing pediatric laboratory. This position is responsible for clinical variant interpretation, classification, and reporting for next-generation sequencing–based testing, including NGS panels, whole exome sequencing, and whole genome sequencing. Working closely with Medical Directors, Genetic Counselors, and laboratory partners, the scientist applies established clinical guidelines to deliver accurate, high-quality, and clinically actionable genomic results while supporting assay development, validation, and the adoption of emerging genomic technologies
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 scientist will collaborate with be working closely with laboratory director to ensure high-quality, clinically reliable genomic results. This role also plays a key part in supporting the growth and development of Phoenix Children’s Clinical Genomics Laboratory and in integrating emerging genomic technologies. The individual will work closely with the Medical Director of Clinical Genomics to advance the adoption of cutting-edge innovations in this rapidly evolving field, ensuring that Phoenix Children’s remains at the forefront of genomic testing. Responsibilities also include supporting the director’s efforts in test development, implementation, optimization, and validation.
Position Duties
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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.
Phoenix Children's Mission, Vision, & Values
To advance hope, healing and the best healthcare for children and their families
VisionPhoenix 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