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Genomic Scientist
Ref No.: 19-00681
Category: Biotechnology
Location: Palo Alto, California
The Genomics Scientist I (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 I is primarily 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, participating in case presentations, and contributing to smaller projects. The Genomic Scientist I is expected to review scientific literature, and assist in the design, development and evaluation of new clinical-grade molecular diagnostic tests. This is not a research position. Your work will directly influence patient diagnosis and potentially impact treatment decisions.

Job Responsibilities:
  • 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
  • Classify clinically significant sequence variants using the ACMG guidelines
  • Summarize results of analyses and effectively communicate results in both written and verbal formats
  • Write clinical-grade molecular diagnostic reports
  • Meet interpretation turn-around times required in a clinical laboratory setting to provide prompt patient care
  • Participate in preparation for CAP inspections
  • Participate in new test development and validation under significant supervision
  • Participate in the development of new clinical-grade genetic tests
  • Consistently adhere to company standards in all interactions with team members and external collaborators.

Minimum Qualifications
  • PhD in scientific field, or MD in a work-related discipline/field from an accredited college or university
  • Three (3) years of work experience in the field of genetics, or combination of relevant experiences. One (1) year or more of work experience in a clinical molecular genetics laboratory is preferred, but not required
  • Demonstrated understanding of genetics and genomics
  • Experience with next generation sequencing and classification of variants using the ACMG guidelines are highly desired, but not required
  • Ability to understand scientific literature and experimental procedures, as well as the limitations and applications of this information in a clinical setting. Demonstrated ability to critically evaluate genetic data, research publications and online resources
  • Detail-orientation with strong analytical skills
  • Computer skills, including word processing and spreadsheet applications
  • Strong written and oral English communication skills. Ability to give public presentations
  • Experience with databases, tools, and resources (e.g. ClinVar, gnomAD, ExAC, HGMD) commonly used in human or model organism genetics and genomics are highly desired, but not required
  • Experience in variant interpretation in a clinical genetic testing laboratory highly desired, but not required
  • Experience working both independently and on team-based projects