Phoenix Children's Hospital, Inc.
Clinical Genomics Scientist Lab Genomics | Full-Time | Phoenix ...Read More Quic
Phoenix Children's Hospital, Inc., Phoenix, Arizona, United States, 85003
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) 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
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.
Miscellaneous duties – Perform miscellaneous job related duties as requested.
Position Qualifications Education
PhD or Master’s degree in Genomics, Molecular Biology, or related field. (Required)
Coursework or certification in Human Genetics or Molecular Diagnostics. (Preferred)
Continuing education in Clinical Genomics or Molecular Pathology. (Preferred)
CLIA/CAP regulatory training or equivalent laboratory coursework. (Preferred)
Demonstrated professional or scholarly involvement in genomics. (Preferred)
Experience
3+ years experience in Clinical Genomics or Molecular Diagnostics. (Required)
Proficiency in variant interpretation and tertiary analysis software. (Required)
Knowledge of ACMG/AMP classification and clinical reporting. (Required)
Experience with gene curation, panel development, or workflow validation. (Preferred)
Experience in a CLIA/CAP-accredited laboratory. (Preferred)
Special Skills
Strong knowledge of molecular genetics and variant databases. (Required)
Proficiency with bioinformatics and tertiary analysis tools. (Required)
Effective written and verbal communication skills for clinical collaboration. (Required)
Analytical and problem‑solving skills for complex data interpretation. (Required)
Basic scripting or coding knowledge to interface with bioinformatics workflows. (Preferred)
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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) 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
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.
Miscellaneous duties – Perform miscellaneous job related duties as requested.
Position Qualifications Education
PhD or Master’s degree in Genomics, Molecular Biology, or related field. (Required)
Coursework or certification in Human Genetics or Molecular Diagnostics. (Preferred)
Continuing education in Clinical Genomics or Molecular Pathology. (Preferred)
CLIA/CAP regulatory training or equivalent laboratory coursework. (Preferred)
Demonstrated professional or scholarly involvement in genomics. (Preferred)
Experience
3+ years experience in Clinical Genomics or Molecular Diagnostics. (Required)
Proficiency in variant interpretation and tertiary analysis software. (Required)
Knowledge of ACMG/AMP classification and clinical reporting. (Required)
Experience with gene curation, panel development, or workflow validation. (Preferred)
Experience in a CLIA/CAP-accredited laboratory. (Preferred)
Special Skills
Strong knowledge of molecular genetics and variant databases. (Required)
Proficiency with bioinformatics and tertiary analysis tools. (Required)
Effective written and verbal communication skills for clinical collaboration. (Required)
Analytical and problem‑solving skills for complex data interpretation. (Required)
Basic scripting or coding knowledge to interface with bioinformatics workflows. (Preferred)
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