Director, Laboratory Genomic Science

GeneDx (Nasdaq: WGS) delivers personalized and actionable health insights to inform diagnosis, direct treatment, and improve drug discovery. The company is uniquely positioned to accelerate the use of genomic and large-scale clinical information to enable precision medicine as the standard of care. GeneDx is at the forefront of transforming healthcare through its industry-leading exome and genome testing and interpretation services, fueled by the world's largest, rare disease data sets. For more information, please visit www.genedx.com.

Hybrid preferred (office is in downtown Oakland, California); fully remote candidates will be considered

Summary

As Director of Laboratory Genomic Science for the Fabric Clinical department, you will support a team of genomic scientists to ensure that tasks related to the interpretation and reporting of genetic test results are performed efficiently and accurately. You will be relied upon to adjudicate difficult variant classification and reporting decisions for hereditary gene panel testing and whole exome/genome testing. This role will report to the Vice President of Clinical Operations and Clinical Genomics. There will be opportunities to participate in process improvement projects, staff training, and research/development initiatives aligned with your interests.

Job Responsibilities

• Act as an Individual Contributor towards gene panel and WGS/WES interpretation and reporting by supporting Genomic Scientists
• Classify and interpret human genetic/genomic variants in panel tests and/or whole exome/genome NGS sequencing tests based on Fabric's SOPs using ACMG criteria
• Triage variants from whole exome/genome sequencing tests to determine phenotypic overlap
• Perform critical quality control functions for molecular reports that complies with quality management programs and SOPs
• Communicate frequently with the laboratory directors, medical geneticists and other Clinical Genomic Scientists regarding variant assessment
• Support improvements for current processes
• Interact with the software development/IT/bioinformatics group(s) regarding technology needs as and when required
• Opportunity to take part in company projects, publications and posters at scientific meetings of relevance to the organization
• Help train junior team members
• Develop/update SOPs for new client labs and tests

People Manager

• No

Education, Experience, and Skills

• Option 1: PhD in a biomedical research field and ABMGG Boarded or Board Eligible for Molecular Genetics or Laboratory Genetics and Genomics
• Option 2: MD or equivalent with training in Clinical Pathology and/or Molecular Pathology
• Strong candidates will have licensure sufficient to sign out molecular tests in California, but this is not a strict requirement
• Experience with hereditary gene panel testing interpretation and reporting
• Experience with phenotype-driven whole exome/genome testing for rare undiagnosed genetic diseases
• Strong leadership skills

Certificates, Licenses, Registrations

• None

Physical Demands

• The physical demands described here are representative of those that must be met by an employee to successfully perform the essential functions of this job. Reasonable accommodation may be made to enable individuals with disabilities to perform the essential functions.
  • While performing the duties of this job, the employee is frequently required to stand; sit and use hands to finger, handle, or feel. The employee is occasionally required to walk; reach with hands and arms; stoop, kneel, crouch, or crawl.
  • Ability to stand, walk, and sit for extended periods.

Work Environment

• Hybrid preferred (office is in downtown Oakland, California); fully remote candidates will be considered
• A combination of remote work (e.g., virtual meetings, phone calls, email communication) and in-person.
• Extended periods of stationary computer work.
• The noise level in the work environment is usually low.
• Periodic attendance at industry conferences, medical seminars, and company training sessions.
• Standard work hours are Monday through Friday.

Acknowledgements

The above job description is not intended to be an all-inclusive list of duties and standards of the position. Incumbents will follow any other instructions, and perform any other related duties, as assigned by their supervisor.