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Sr. Genomic Scientist
Ref No.: 19-00682
Category: Biotechnology
Location: Palo Alto, California
The Genomics Scientist III (variant analyst) is a vital member of the team. This position involves interaction with diverse team members, including laboratory directors, genetic counselors, laboratory technologists, bioinformaticians, and clinicians, who work together to provide clinical genetic test results for patients undergoing testing. Within this team, the Genomics Scientist III is an expert in one or more disease areas, disorders, or test types and knowledgeable in at least one other area. This team member mentors and trains his/her colleagues in his/her area of expertise. This position functions as the right hand to the laboratory directors, assists laboratory directors in day-to-day management of workload attributions amongst other team members, and provides oversight to team members in clinical duties. He/she is also responsible for variant interpretation, i.e. evaluating the clinical relevance of variants identified by diagnostic next generation sequencing. Additional responsibilities include, but are not limited to, drafting clinical reports, case presentations, leading quality, process improvement and development projects, heading the design, development and evaluation of new clinical-grade molecular diagnostic tests, evaluating and implementing evolving variant interpretation standards and workflows, and conducting training and participating in outreach.

Job Responsibilities
  • Support the clinical laboratory with broad knowledge in disease areas
  • Mentor colleagues and provide oversight to team members regarding clinical duties
  • Assist laboratory directors in day-to-day management of workload attributions amongst other team members
  • Mentor other team members for career development, guidance in role, and/or lead them through significant changes in their role or workflows (change management)
  • Identify clinically significant sequence variants, using established tools and workflows
  • Collect genetic, clinical, and molecular information from peer-reviewed scientific journals and public data sources
  • Critically analyze and verify the accuracy of published data and abstract information relevant to individual clinical case analyses
  • Review patient medical records and abstract information relevant to individual clinical case analyses
  • Independently classify clinically significant sequence variants using the ACMG guidelines
  • Summarize results of analyses and effectively communicate results in both written and verbal formats
  • Independently write error-free clinical grade molecular diagnostic reports
  • Discuss case results with the ordering providers. Oversee colleagues' case presentations to providers
  • Meet interpretation turn-around times required in a clinical laboratory setting to provide prompt patient care. Demonstrate efficiency in daily tasks to complete assigned volume within defined turnaround times.
  • Develop and implement changes to significantly decrease turnaround times or to reduce cost per case.
  • Proactively redirect effort to address or relieve production pressure points, improve workplace productivity, and strive towards fair distribution of work across team
  • Lead the development of new and significant enhancements of existing clinical-grade genetic tests
  • Independently design and complete clinical validations. Oversee creation of validation documentation and SOP documentation
  • Proactively identify and implement processes to maintain CAP/CLIA compliance.
  • Lead the development or integration of a new analysis system or tool
  • Lead impactful quality improvement projects. Improve quality and operations by identifying and resolving unique or challenging issues.
  • Oversee the development, maintenance and improvement of SOPs and policy documents
  • Independently design and complete software system verification or other IT-related quality improvement projects. Identify and report errors or inconsistencies in analysis tools or online resources
  • Create resource materials for reference or training. Develop and manage the training curriculum of new hires, rotating students, residents and/or fellows. Conduct team trainings for a new or significantly modified tests, significant new analysis system or tool
  • Oversee compliance with training/competency CAP requirements
  • Participate in collaborations with other clinical or research labs and affiliates. Participate in outreach activities that increase the laboratory's visibility in the Stanford community.
  • Supervise or guide staff, students or trainees, as needed; schedule and assign workload; set appropriate deadlines; review work for quality and timeliness
  • Consistently adhere to company standards in all interactions with team members and external collaborators. Collaborate to resolve misunderstandings and issues early before they impact timelines, team spirit or morale. Implemented changes to improve or resolve issues in communication with other clinical sub teams if necessary
  • Contribute to manuscripts for publication in an academic journal

Minimum Qualifications
  • PhD in scientific field, or MD; or a Masters in medical genetics or related scientific field from an accredited college or university with extensive research or relevant work experience.
  • At least five (5) years of experience in a CLIA-certified clinical laboratory performing germline diagnostic testing. At least three (3) years of experience with NGS-based diagnostic tests.
  • Expert in next generation sequencing and classification of variants using the ACMG guidelines
  • Expertise in understanding scientific literature and experimental procedures, as well as the limitations and applications of this information in a clinical setting. Demonstrated expertise in critically evaluating genetic data, research publications and online resources
  • Clear understanding of CAP requirements
  • Detail-orientation with strong analytical skills
  • Computer skills, including word processing and spreadsheet applications
  • Strong written and oral English communication skills
  • Expertise in databases, tools, and resources (e.g. ClinVar, gnomAD, ExAC, HGMD) commonly used in human or model organism genetics and genomics required
  • Significant experience in variant interpretation in a clinical genetic testing laboratory required
  • Demonstration of expertise, maintenance of tests, and oversight of day-to-day operations of specific disease domain
  • Experience working both independently and on team-based projects.
  • Ability to propose/identify and lead the implementation of significant productivity enhancements, particularly changes to decrease turnaround times or reduce cost per sample.
  • Ability to give poster or other presentations/talks in front of large audiences
  • Knowledge to independently design and complete clinical validations. Oversee creation of validation documentation and SOP documentation.
  • Change management champion