Clinical Genomics Scientist

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Position Details

Department: PCH-MAIN | Lab Genomics
Location: Phoenix
Shift: Mon-Fri, Days, 8am-5pm
Category: Laboratory/Pathology
Posting #: 987446
Employee Type: Full-Time

Position Summary

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) such 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.
  • 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 Qualifications

Please review the following qualifications and specify whether you meet each of the requirements listed.

Education

Do you meet this requirement or have the ability to obtain it
within the timeframe listed in the requirement?
1. PhD or Master’s degree in Genomics, Molecular Biology, or related field.
Required
2. Coursework or certification in Human Genetics or Molecular Diagnostics.
Preferred
3. Continuing education in Clinical Genomics or Molecular Pathology.
Preferred
4. CLIA/CAP regulatory training or equivalent laboratory coursework.
Preferred
5. Demonstrated professional or scholarly involvement in genomics.
Preferred

Experience

Do you meet this requirement or have the ability to obtain it
within the timeframe listed in the requirement?
1. 3 or more years experience in Clinical Genomics or Molecular Diagnostics.
Required
2. Proficiency in variant interpretation and tertiary analysis software.
Required
3. Knowledge of ACMG/AMP classification and clinical reporting.
Required
4. Experience with gene curation, panel development, or workflow validation.
Preferred
5. Experience in a CLIA/CAP-accredited laboratory.
Preferred

Special Skills

Do you meet this requirement or have the ability to obtain it
within the timeframe listed in the requirement?
1. Strong knowledge of molecular genetics and variant databases.
Required
2. Proficiency with bioinformatics and tertiary analysis tools.
Required
3. Effective written and verbal communication skills for clinical collaboration.
Required
4. Analytical and problem-solving skills for complex data interpretation .
Required
5. Basic scripting or coding knowledge to interface with bioinformatics workflows.
Preferred

Physical Requirements & Occupational Exposure/Risk Potential

1. Physical Requirement - Fine Motor Skills (pinching, gripping, etc) - Constantly
2. Physical Requirement - Hearing - Constantly
3. Physical Requirement - Pushing/pulling - Occasionally
4. Physical Requirement - Reaching - Constantly
5. Physical Requirement - Sitting - Constantly
6. Physical Requirement - Standing - Constantly
7. Physical Requirement - Stooping/crouching/kneeling/crawling - Occasionally
8. Physical Requirement - Talking - Constantly
9. Physical Requirement - Walking - Constantly
10. Physical Requirement - Near Vision - Constantly
11. Physical Requirement - Far Vision - Occasionally
12. Physical Requirement - Color Discrimination - Constantly
13. Physical Requirement - Use of keyboard, mouse and/or computer equipment - Constantly
14. Physical Requirement - Lift up to 35 pounds without assistance - Occasionally
15. Occupational Exposure/Risk Potential - Inside office environment - Applicable
16. Occupational Exposure/Risk Potential - Extreme noise levels - Applicable
17. Occupational Exposure/Risk Potential - Airborne communicable diseases - Applicable
18. Occupational Exposure/Risk Potential - Bloodborne pathogens or bodily fluid - Applicable
19. Occupational Exposure/Risk Potential - Fumes or airborne particles - Applicable
20. Occupational Exposure/Risk Potential - Hazardous materials exposure - Applicable
21. Occupational Exposure/Risk Potential - Radiation exposure - Applicable
22. Occupational Exposure/Risk Potential - Toxic or caustic chemicals - Applicable
I have reviewed the qualifications, physical requirements and occupational exposure/risk potential for this position and wish to apply