Bioinformatics Analyst (Genomic Variant Screening)

Rockville, Maryland
Sep 22, 2017
Position Type
  Location: Maryland/ Pennsylvania

Work Schedule: Days

Work Type: FULL TIME



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, programing 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.


1.     *Data Transformation, Exploration, Visualization, and Expertise

a.     Perform genomic variant screening for genomic research and facilitate necessary communication regarding variant status among research collaborators.

b.     Strategically considers all potential uses for available data, and how to transform disparate data into a useful data.

c.     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.

d.     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.

e.     Participates in the development, implementation, and enforcement of data management standards and procedures.

2.     *Research and Evaluation

a.     Proactively identifies potential outcome analysis, goals of intervention, and basic evaluation structure in the planning phases of research projects.

b.     Provides guidance, feedback, and input in the development of protocols and research proposals.

c.     Works closely with Geisinger research staff (including Project Managers, Biostatisticians, Analysts, etc.).

d.     Performs statistical analysis and appropriate validations to evaluate the success of project implementation.

e.     Maintains current knowledge base by reading recent literature.

f.      Establishes area of expertise that evolves the field of health care analytics and is recognized through national presentations and/or co-authorship of publications.

3.     *Project Coordination, Stakeholder Management, Business Case Development

a.     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.

b.     Participates as a collaborator during start-up and coordination of development initiatives. May involve resources within or external to Geisinger to guide initiatives.

4.     *Development, Mentorship, Management

a.     Serves as an internal and external training resource and develops training materials for analytic tools, methodologies and reports.

b.     Provides technical, analytical, and business guidance to other team members as well as the various departments within Geisinger.

c.     Attends national conferences related to the goals and mission of the Genomic Medicine Institute.

d.     Collaborate with Geisinger clinical laboratories to streamline and harmonize efforts, and promote the translation of proven research processes into clinical care.

5.     Performs other duties as assigned.

*Denotes essential job 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.


Demonstrates ability to effectively communicate quantitative information to physicians, clinical staff, operational staff, data analysts, as well as other collaborators.

Demonstrates sound judgment and resourcefulness.

Demonstrates 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.

Demonstrates knowledge of research methodology and research data collection.

Demonstrates ability to work independently on multiple projects simultaneously.

Demonstrates the ability to work effectively in a team environment as well as interface with all levels of staff/management within and beyond the organization.

Demonstrates ability to interpret and communicate analytical information in a clear, concise manner.

Demonstrates general understanding of the healthcare industry.

Demonstrates understanding of relational database concepts and query tools.

Demonstrates knowledge of internal and external operational, clinical and financial information systems.

Demonstrates the ability to prepare and understand functional and technical specifications.


Master’s degree or PhD in informatics, bioinformatics, human genetics, or molecular biology, or closely related field required. Must have minimum of one year of informatics experience applied to genomic variant data storage and curation or one year experience working in a clinical or research human genomics laboratory.


Work is typically performed in an office environment.

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.




About Geisinger

Geisinger Health System is an integrated health services organization widely recognized for its innovative use of the electronic health record and the development of innovative care delivery models such as ProvenHealth Navigator® and ProvenCare®. As one of the nation’s largest health service organizations, Geisinger serves more than 3 million residents throughout 45 counties in central, south-central and northeast Pennsylvania, and also in southern New Jersey with the addition of AtlantiCare, a National Malcolm Baldridge Award recipient. The physician-led system is comprised of approximately 30,000 employees, including nearly 1,600 employed physicians, 12 hospital campuses, two research centers and a 510,000-member health plan, all of which leverage an estimated $8.9 billion positive impact on the Pennsylvania economy. Geisinger has repeatedly garnered national accolades for integration, quality and service. In addition to fulfilling its patient care mission, Geisinger has a long-standing commitment to medical education, research and community service. For more information, visit, or follow the latest Geisinger news and more on Twitter and Facebook.


** Does not qualify for J-1 waiver.  We are an Affirmative Action, Equal Opportunity Employer Women and Minorities are Encouraged to Apply.  All qualified applicants will receive consideration for employment and will not be discriminated against on the basis of disability or their protected veteran status.


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