Clinical Genomics Scientist

Phoenix Children's; Phoenix (AZ); On-site; USD 75,000 - 95,000; Full time

Job summary

Phoenix Children's is seeking a Clinical Genomics Scientist in Phoenix, Arizona. This role focuses on variant interpretation for clinical genomic testing, providing expertise in next-generation sequencing (NGS), whole exome, and whole genome sequencing.

The ideal candidate holds a PhD or Master’s in Genomics, has 3+ years of relevant experience, and possesses strong knowledge of molecular genetics. Join a dynamic team dedicated to innovative genomic testing and high-quality patient care.

Qualifications

• 3+ years of experience in Clinical Genomics or Molecular Diagnostics.
• Proficiency in ACMG/AMP classification.
• Experience with gene curation and panel development.

Responsibilities

• Interpret genetic variants for clinical genomic testing.
• Collaborate on clinical reports with genetic counselors.
• Support validation of new NGS platforms.

Skills

Variant interpretation

Bioinformatics proficiency

Molecular genetics knowledge

Analytical skills

Effective communication

Education

PhD or Master's in Genomics or related field

Coursework in Human Genetics or Molecular Diagnostics

Tools

Variant databases

Tertiary analysis software

Job description

Clinical Genomics Scientist

Department: PCH-MAIN | Lab Genomics
Location: Phoenix
Shift: Mon-Fri, varying shifts 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) panels, whole exome sequencing (WES), and whole genome sequencing (WGS). The Clinical Genomics Scientist works 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.

Position Duties

• Variant Interpretation and Reporting: Interpret and classify genetic variants for all assays including NGS panels, WES, and WGS; 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 the laboratory medical director(s) and 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 any related job duties as requested.

Education Requirements

• Required: 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.

Experience Requirements

• Required: 3 or more 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.

Special Skills

• Required: 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.

Physical Requirements & Occupational Exposure/Risk Potential

• Fine Motor Skills (pinching, gripping, etc) – Constantly
• Hearing – Constantly
• Pushing/pulling – Occasionally
• Reaching – Constantly
• Sitting – Constantly
• Standing – Constantly
• Stooping/crouching/kneeling/crawling – Occasionally
• Talking – Constantly
• Walking – Constantly
• Near Vision – Constantly
• Far Vision – Occasionally
• Color Discrimination – Constantly
• Use of keyboard, mouse and/or computer equipment – Constantly
• Lift up to 35 pounds without assistance – Occasionally
• Occupational Exposure/Risk Potential – Inside office environment – Applicable
• Occupational Exposure/Risk Potential – Extreme noise levels – Applicable
• Occupational Exposure/Risk Potential – Airborne communicable diseases – Applicable
• Occupational Exposure/Risk Potential – Bloodborne pathogens or bodily fluid – Applicable
• Occupational Exposure/Risk Potential – Fumes or airborne particles – Applicable
• Occupational Exposure/Risk Potential – Hazardous materials exposure – Applicable
• Occupational Exposure/Risk Potential – Radiation exposure – Applicable
• Occupational Exposure/Risk Potential – Toxic or caustic chemicals – Applicable