Scientist, Clinical Variant Annotation

Scope of Position:

The James Molecular Pathology Laboratory performs clinical molecular diagnostics testing and uniquely spans across the research and clinical missions of The Ohio State University Comprehensive Cancer Center-Arthur G. James Cancer Hospital (OSUCCC-James). The OSUCCC-James is committed to providing the community/region it serves with high quality services in cancer detection, diagnosis, treatment and rehabilitation as one of the nations 10 free standing cancer-only hospitals which, with 300+ beds, is one of the largest PPS-exempt hospitals in the USA (2500+ FTEs). As an NCI designated Cancer program, the OSUCCC-James encompasses over 400,000 outpatient and clinic patient visits, more than 14,500 hospital admissions and over 10,000 surgeries per year. The CAP-, JCAHO- and CLIA-certified molecular laboratory is recognized as one of the top academic centers performing highly complex genetic testing utilizing advanced technology. It supports outreach testing programs, multi-institution cooperative efforts and educational rotations for medical students, residents, fellows and faculty from internal and external institutions. The Clinical Variant Annotation Scientist will perform genomic variant annotation and bioinformatics analysis for clinical testing. Primary responsibilities will include the development and use of bioinformatics pipelines to provide annotation of next-generation sequencing (NGS) data in a CAP/CLIA laboratory environment. Secondary responsibilities will include providing bioinformatics and technical support for new test development and helping to define and improve variant curation data models and the scoring and reporting process. The laboratory is regularly staffed five days a week (Monday through Friday) with weekend hours as needed.

Position Summary:

The Clinical Variant Annotation Scientist focus will be to perform genomic variant annotation for clinical testing. Primary responsibilities will include the development and use of bioinformatics pipelines to provide annotation of next-generation sequencing (NGS) data in a CAP/CLIA laboratory environment. Assists in the analysis, design, testing and implementation of clinical information systems and solutions. Conducts assessments of the clinical environment and identifies implications for system implementations, and may act as a facilitator for those changes in the clinical environment. Secondary responsibilities will include providing bioinformatics and technical support for new test development and helping to define and improve variant curation data models and the scoring and reporting process. Administrative duties include: technical procedure writing and development of training materials for technologists and residents and fellows, keeping current with journal reviews that pertain to testing performed in the laboratory. This individual will maintain databases and other tools for record keeping and documentation in the laboratory ensuring laboratory inspection preparedness / readiness.

Minimum Qualifications

For Hire:

Bachelors degree in biology, genetics, statistics, biostatistics, bioinformatics, computer science, or similar; graduate level coursework in computer science and bioinformatics preferred; Must be proficient in NGS techniques and variant analysis in a CAP/CLIA clinical or core laboratory

Experience

• Prior experience as a medical technologist
• Programming skills in R, Python, Perl, BASH or similar
• Experience/coursework in Linux and SQL environments
• Familiarity with the Illumina platform and commonly used genomics software

On going:

Maintain certification by education credits; meets health surveillance requirements. Demonstrate competence in technical, interpersonal and cognitive skills required to meet essential job functions.

Career Roadmap:

FUNCTION: Clinical Labs

SUB-FUNCTION: Bioinformatics

CAREER BAND: Individual Contributor - Specialized

CAREER LEVEL: S3

MINIMUM REQUIRED QUALIFICATIONS
Bachelor's Degree in Biology, Genetics, Statistics, Biostatistics, Bioinformatics, Computer Science or similar. 4 years of relevant experience required. 4-8 years of relevant experience preferred.