Bioinformatics Analyst for Genomic Variant Screening

The Bioinformatics Analyst for Genomic Variant Screening is primary accountability is to leverage Geisinger data assets to improve quality, efficiency and generate knowledge specifically in the field of health research. Bioinformatics Analyst uses data expertise, programming abilities, and critical thinking skills to solve complex issues as well as identify new and innovative uses and transformations of available data. The Bioinformatics Analyst performs and supervises complex data extraction, transformation, visualization, and summarization to support Research activities and applies clinical genomic interpretation principles and current practice recommendations to MyCode participant genomic data for Research purposes. The role requires assessing relevant data from genomic databases regarding variant frequency, variant type, mechanism of disease, and phenotypic information. Uses data reporting/management tools, and contributes to national publications.

Works under the direct supervision of the Chief Research Informatics Officer to identify, develop, and execute initiatives related to the Genomic Medicine Institute.

Major Duties and Responsibilities

Data Transformation, Exploration, Visualization, and Expertise 

  • Perform genomic variant screening for genomic research and facilitate necessary communication regarding variant status among research collaborators
  • Strategically considers all potential uses for available data, and how to transform disparate data into a useful data.
  • Conducts independent operational, clinical and financial analysis (using statistical methods where appropriate) with clearly summarized findings and recommendations for technical/clinical and non-technical/clinical audiences. Ensures accuracy, data integrity and validity of data/analysis in all work.
  • When appropriate, translates project specific analysis into ongoing, automated reporting tools including specification preparation, design, testing, validation, analysis and merging data from various source systems.
  • Participates in the development, implementation, and enforcement of data management standards and procedures. 

Research and Evaluation 

  • Proactively identifies potential outcome analysis, goals of intervention, and basic evaluation structure in the planning phases of research projects. 
  • Provides guidance, feedback, and input in the development of protocols and research proposals. 
  • Works closely with Geisinger research staff (including Project Managers, Biostatisticians, Analysts, etc.). 
  • Performs statistical analysis and appropriate validations to evaluate the success of project implementation. 
  • Maintains current knowledge base by reading recent literature. 
  • Establishes area of expertise that evolves the field of health care analytics and is recognized through national presentations and/or co-authorship of publications. 

Project Coordination, Stakeholder Management, Business Case Development 

  • Works closely with all levels of staff, customers and improvement teams to determine genomic variant data needs and requirements; independently develops quantitative approaches (drawing on a range of methodologies) to identify opportunities for performance improvement. Proactively educates the requester of any complexities associated with the data requests. 
  • Participates as a collaborator during start-up and coordination of development initiatives. May involve resources within or external to Geisinger to guide initiatives. 


Development, Mentorship, Management 

  • Serves as an internal and external training resource and develops training materials for analytic tools, methodologies and reports. 
  • Provides technical, analytical, and business guidance to other team members as well as the various departments within Geisinger. 
  • Attends national conferences related to the goals and mission of the Genomic Medicine Institute.
  • Collaborate with Geisinger clinical laboratories to streamline and harmonize efforts, and promote the translation of proven research processes into clinical care.

Performs other duties as assigned.

Specific Position Duties:

  1. Work with clinical genetics, genomics research, and clinical laboratory collaborators to ensure accurate flow of clinically relevant genomic variants through research pipeline.
  2. Perform genomic variant screening to identify variants requiring formal clinical interpretation.
  3. Contribute toward robust genomic variant data storage that facilitates periodic re-review of variants that were not deemed clinically reportable.

Competencies and Skills:

  • Ability to effectively communicate quantitative information to physicians, clinical staff, operational staff, data analysts, as well as other collaborators
  • Sound judgment and resourcefulness.
  • Advanced programming skills (SQL, SAS), data visualization and interpretation skills, and database development skills (Microsoft SQL Server, Teradata SQL Server) and the ability to instruct users on programming of large data repositories.
  • Knowledge of research methodology and research data collection.
  • Ability to work independently on multiple projects simultaneously.
  • Ability to work effectively in a team environment as well as interface with all levels of staff/management within and beyond the organization.
  • Ability to interpret and communicate analytical information in a clear, concise manner.
  • General understanding of the healthcare industry.
  • Understanding of relational database concepts and query tools.
  • Knowledge of internal and external operational, clinical and financial information systems.
  • Ability to prepare and understand functional and technical specifications.

Education and/or Experience:

Requires one of the following:

  1. Master’s degree or PhD in informatics, bioinformatics, or closely related field required and minimum of one year experience in clinical or research human genomics laboratory.
  2. Master’s degree or PhD in human genetics, molecular biology, or closely related field. Must have minimum of one year of informatics experience applied to genomic variant data storage and curation. Minimum of one year experience with health care or genomic data required. In lieu of one year full time experience, internship and project work can be recognized.

The specific statements shown in each section of this description are not intended to be all-inclusive. They represent typical elements considered necessary to successfully perform the job.

Join our team

Interested in joining the Geisinger team? This role offers geographic flexibility, with offices located in Danville PA, State College PA, and Rockville MD.