Phoenix Children’s
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 as 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 Childrens 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 Childrens remains at the forefront of genomic testing. Responsibilities also include supporting the director’s efforts in test development, implementation, optimization, and validation.
Position Duties
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 Mission To advance hope, healing and the best healthcare for children and their families
Vision 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
Values
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
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Position Duties
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 Mission To advance hope, healing and the best healthcare for children and their families
Vision 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
Values
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
#J-18808-Ljbffr