Genomics Sr Staff Scientist

About this role

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Day - 08 Hour (United States of America)

This is a Stanford Health Care job.

A Brief Overview As a member of the Clinical Laboratory team, the Genomic Senior Staff Scientist will collaborate with a diverse team including laboratory directors, genetic counselors, laboratory technologists, bioinformaticians, and clinicians, who work together to provide clinical genetic and genomic test results. Within this team, the Genomic Senior Staff Scientist is responsible for variant prioritization and interpretation derived from clinical sequencing data, i.e. evaluating the clinical relevance of genetic variants identified by clinical diagnostic tests using appropriate internal and external guidelines, including relevant evidence obtained from the scientific literature. Additional responsibilities include, but are not limited to, drafting clinical reports, contributing to quality and process improvement or development projects, assisting in the design, development and evaluation of new clinical-grade molecular diagnostic tests, evaluating and implementing evolving variant interpretation standards and workflows, and assisting in onboarding new team members.

Locations Stanford Health Care

What you will do • Identify clinically significant sequence variants (germline and/or somatic), 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 (germline and/or somatic)

• Summarize results of analyses and effectively communicate results in both written and verbal formats

• 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 the target turn-around time.

• Proactively identify or volunteer to address production pressure points and take on projects to improve workplace productivity

• Participate in the development of new clinical-grade genetic tests and/or enhancements of existing assays

• Assist in clinical validation of new tests and workflow updates

• Assist in the development or integration of new analysis systems, software tools, and workflows for new and existing laboratory tests

• Identify and report errors or inconsistencies in analysis tools or online resources

• Participate in software system verification and other quality improvement projects. Create verification documentation and SOP documentation drafts. Provide suggestions and feedback for SOP improvements of existing tests

• Lead the implementation of productivity enhancements

• Curate genes for new test development (Mendelian (germline) and/or oncology (somatic)

• Contribute to preparations for audits (documentation, quality monitoring, etc.) to meet CAP/CLIA requirements

• Create reference or training resource materials

• Consistently adhere to C-I-CARE 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

Education Qualifications • PhD or MS in Molecular Biology, Genetics, or a related discipline/field, from an accredited college or university.

Experience Qualifications • Four (4) or more years of work experience in the field of genetics or cancer genetics, or combination of relevant experiences.

• One (1) year or more of work experience in a CLIA-certified clinical laboratory performing diagnostic testing.

• Of the above, at least one (1) year experience must be with NGS-based tests and at least one (1) year experience in germline or cancer diagnostic testing.

Required Knowledge, Skills and Abilities • Experience in next generation sequencing and classification/curation of variants

• Ability to understand scientific literature and experimental procedures, as well as the limitations and applications of this information in a clinical setting. Experience in critically evaluating genetic data, research publications and online resources

• Experience in databases, tools, and resources commonly used in human or model organism genetics and genomics required (e.g. ClinVar/ClinGen, gnomAD, ExAC, HGMD, COSMIC)

• Experience working in multidisciplinary team-based projects

• Ability to propose/identify and lead the implementation of significant productivity enhancements, particularly changes to decrease turnaround times and/or reduce costs

• Change management champion

• Detail-orientation with strong analytical skills

• Computer skills, including word processing and spreadsheet applications

• Strong written and oral English communication skills

• Experience with databases, tools, and resources (e.g. ClinVar, gnomAD, ExAC, HGMD, COSMIC ) commonly used in human or model organism genetics and genomics required

• Experience in variant interpretation in a clinical genetic testing laboratory required

• Experience working both independently and on team-based projects

• Perform day-to-day operations independently with little assistance from other team members or laboratory directors

• Participate in clinical validation of a new test or update to existing test with minimal supervision. Create validation documentation and SOP documentation drafts requiring minimal corrections

Preferred Knowledge, Skills and Abilities • Knowledge to independently design and complete clinical validations, as well as oversee development and drafting of validation and SOP documentation.

• Excellent

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