Clinical Genomics Scientist New! Lab Genomics | Full-Time | Phoenix ...Read More Quick Apply! L[...]

Phoenix Children's Hospital, Inc.; Phoenix (AZ); On-site; USD 80,000 - 110,000; Full time

Job summary

Phoenix Children's Hospital, Inc. is looking for a Clinical Genomics Scientist to support genomic testing through variant interpretation, classification, and reporting. Responsibilities include working with clinical genomic physician leadership and ensuring high-quality genomic results through a meticulous scientific approach.

The ideal candidate holds a PhD or Master’s degree in a relevant field and has at least 3 years of experience in Clinical Genomics or Molecular Diagnostics. Additional preferred skills include proficiency with bioinformatics tools and a strong understanding of molecular genetics.

Qualifications

• PhD or Master's degree in Genomics or related field is required.
• At least 3 years of experience in Clinical Genomics or Molecular Diagnostics.
• Proficient in interpreting genetic data and using classification guidelines.

Responsibilities

• Interpret and classify genetic variants for all assays.
• Collaborate with medical directors to finalize clinical reports.
• Participate in internal audits and maintain compliance.

Skills

Variant interpretation

Bioinformatics

Molecular genetics

Analytical skills

Communication skills

Education

PhD or Master’s degree in Genomics, Molecular Biology, or related field

Tools

Tertiary analysis software

Bioinformatics tools

Job description

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 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 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, ensure high‑confidence variant calls, and 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) 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 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 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 (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).
• 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).