The Clinical Genomics Service (CGS) is a new, multi-disciplinary clinical laboratory service formed in collaboration between Stanford Health Care, Stanford Children’s Health, and the Stanford University School of Medicine. Using genome, exome, and other next-generation sequencing technologies to evaluate patients with unexplained heritable disease, the CGS strives to deliver world-class genomics services to our patients.
The Clinical Data Scientist is a vital member of the CGS 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 at the CGS. Within this team, the Clinical Data Scientist is primarily responsible for evaluating the clinical relevance of variants identified by diagnostic next generation sequencing. Additional responsibilities may include, but are not limited to, drafting clinical reports, participating in case presentations, assisting in the design, development and evaluation of new molecular diagnostic tests, evaluating and implementing evolving variant interpretation standards and workflows, and assisting in training and outreach for Stanford University and Hospital students and community.
Your work will directly influence patient diagnosis and potentially treatment decisions.
The essential functions listed are typical examples of work performed by positions in this job classification. They are not designed to contain or be interpreted as a comprehensive inventory of all duties, tasks, and responsibilities. Employees may also perform other duties as assigned.
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 in order to provide prompt patient care
Participate in collaborations with other clinical or research labs and affiliates
Supervise or guide staff, students or trainees, as needed; schedule and assign workload; set appropriate deadlines; review work for quality and timeliness