Job Summary

In accordance with the Purpose, Vision, Values and Coast Salish Teachings, and strategic directions of PHSA, safety, including both patient and employee safety, is a priority and a responsibility shared by everyone at PHSA. As such, the requirement to continuously improve quality and safety is inherent in all aspects of this position.

The Genomics Specialist is responsible for providing genomics support for clinical needs. Working with the laboratory Medical and Operational Leaders and staff, the Genomics Specialist provides support to the full scope of genomics data generation and analysis. The Genomics Specialist is also responsible for investigating, analyzing, proposing and implementing solutions based on best practices and novel developments in the areas of wet lab processes and genomics analyses. The Genomics Specialist works in a team environment, collaborating and building relationships with medical, operational, and scientific staff as well as with national and international collaborators.

Duties/Accountabilities

Supports the genomic data generation both operationally and through research and development. Acquires and analyzes complex genomic data, including compiling written and oral data in an organized approach, necessary to provide accurate and timely information to guide diagnostics, interventions, and policy under the guidance of Laboratory Scientist(s). Understands the scientific computing infrastructure needed for molecular and genomics data management and analysis, and supports computational troubleshooting. Supports the design of diagnostic assays using genomics data, in conjunction with Medical and Scientific Leads. Creates standard operating procedures (SOPs) for workflows and pipelines as part of the Laboratory’s Quality Management system; assists Medical and Operational staff in accreditation processes and the maintenance of a quality system. Collaborates with laboratory Medical, Scientific, and Operational staff, integrates, develops, and/or maintains bioinformatics tools and pipelines to support genomic data management and analysis activities. Supports genomics and bioinformatics user training, in conjunction with Laboratory Scientists, Operational leaders, and Medical Leads. Keeps accurate records of data collected for evaluation, verification, and/or validation, and prepares data for review and approval. Performs and summarizes technology assessment activities. Represents the organization in various forums as a speaker and disseminates findings including publishing scholarly work.

Qualifications

A level of education, training and experience equivalent to a Master’s program in related discipline such as Medical Genomics/Human Genetics, Molecular Biology, Bioinformatics or Computational Biology plus a minimum of three (3) years of recent related experience or an equivalent combination of graduate education, training and experience. Experience in a medical laboratory discipline is preferred. Documented proficiency in one or more of the following: sequence data analysis including variant prioritization and/or classification; building biological databases; at least one modern computer language; the ability to design and build robust computational pipelines; data standards.

Excellent ability to communicate effectively both verbally and in writing. Demonstrated ability to work effectively with others within a team environment, as well as independently. Demonstrated ability to efficiently organize work assignments and establish priorities. Strong attention to detail, critical thinking, and troubleshooting skills. Proven time management, organizational, leadership and interpersonal skills.