Clinical Genomics Scientist

Position Details

Department: PCH-MAIN | Lab Genomics

Location:

Phoenix

Shift: Mon-Fri, Days, 8am-5pm
Category:
Laboratory/Pathology
Employee Type:
Full-Time

The Clinical Genomics Scientist role operates on a primarily Monday–Friday day shift, with a hybrid on‑site/remote work model. It involves no patient interaction. Ideal candidates bring experience in clinical variant interpretation within a CAP/CLIA environment, strong scientific judgment, and the ability to communicate complex genomic findings clearly. The position reports to laboratory leadership within a small, multidisciplinary team and is evaluated on turnaround time, report productivity, regulatory compliance, collaboration, and continuous improvement.

Competitive compensation is offered, with flexibility for sign‑on bonuses, relocation, and remote work options based on qualifications and experience.

• Interpret and classify genetic variants for all assays, including NGS panels, WES, and WGS; apply ACMG/AMP guidelines and prepare evidence‑based summaries.
• Review sequencing data to identify artifacts and ensure high‑confidence variant calls; maintain documentation and compliance.
• Support validation and launch of new NGS and bioinformatics platforms, ensuring accuracy and efficiency.
• Collaborate with laboratory medical director(s) and genetic counselor(s) to prepare and finalize clinical reports.
• Work with bioinformatics and technical teams to troubleshoot pipelines and optimize variant analysis performance.
• Contribute to curation initiatives and update panel content to enhance clinical relevance and data consistency.
• Participate in internal audits, proficiency testing, and ongoing QC processes to uphold CLIA/CAP standards.
• Train and mentor technologists, fellows, and bioinformaticians in variant interpretation and workflow best practices.
• Stay current on emerging genomic technologies and present findings at internal meetings or conferences.
• Perform miscellaneous job‑related duties as requested.

• PhD or Master’s degree in Genomics, Molecular Biology, or a related field.
• Coursework or certification in Human Genetics or Molecular Diagnostics.
• Continuing education in Clinical Genomics or Molecular Pathology.
• CLIA/CAP regulatory training or equivalent laboratory coursework.
• Demonstrated professional or scholarly involvement in genomics.

• 3+ years in Clinical Genomics or Molecular Diagnostics.
• Proficiency in variant interpretation and tertiary analysis software.
• Knowledge of ACMG/AMP classification and clinical reporting.
• Experience with gene curation, panel development, or workflow validation.
• Experience in a CLIA/CAP‑accredited laboratory.

• Strong knowledge of molecular genetics and variant databases.
• Proficiency with bioinformatics and tertiary analysis tools.
• Effective written and verbal communication skills for clinical collaboration.
• Analytical and problem‑solving skills for complex data interpretation.
• Basic scripting or coding knowledge to interface with bioinformatics workflows.

• Fine Motor Skills – 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
• Inside office environment – Applicable
• Extreme noise levels – Applicable
• Airborne communicable diseases – Applicable
• Bloodborne pathogens or bodily fluid – Applicable
• Fumes or airborne particles – Applicable
• Hazardous materials exposure – Applicable
• Radiation exposure – Applicable
• Toxic or caustic chemicals – Applicable

To advance hope, healing and the best healthcare for children and their families.

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 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.