Genetic Analyst/Variant Curator

WVU Medicine•Bensley, VA

23h•Onsite

About The Position

This position works under the guidance of the Lab Director to support both the clinical and developmental operations of the Molecular Diagnostics Laboratory while accurately identifying and classifying genetic variants/mutations detected through molecular genetic testing.

Requirements

Master’s degree in molecular genetics, human genetics, molecular pathology, biology, or related science field.
The ability to critically read, understand, and interpret data from scientific publications. Cross-disciplinary and strong analytical skills as well as broad experience using computational methods, databases, software and hardware.
Familiarity with Germline databases, Sanger Sequencing and Next-generation sequencing (NGS).
Ability to communicate verbally, written and electronically with healthcare personnel.
Able to follow complex procedures with minimal guidance.

Nice To Haves

Experience with variant interpretation in a CLIA certified diagnostic laboratory including those with Genetic Counseling backgrounds.
Working knowledge of human genetics and diagnostic genetic testing concepts.
Strong understanding of biology, molecular mechanism, and functional studies of human genetic disease genes.

Responsibilities

Assist in the analysis of multiple types of clinical genomic datasets following practice guidelines under the direction of the Laboratory Directors.
Demonstrate ability to understand, synthesize, and coherently evaluate complex genetic information.
Conduct curation of variants identified through whole exome, targeted NGS panels and other molecular tests.
Compile and distill information from multiple sources including scientific literature and publications.
Under directors general direction, independently perform interpretation of genomic variants following ACMG/ASCO/AMP and established laboratory determined practice guidelines.
Provide preliminary draft of clinical testing result report according to internal and professional standards.
Participate in presenting findings at internal/external clinical genomic meetings.
Learns and consistently follows the approved standard operating procedures for performing data analysis and case management, communicating with technical and non-technical staff, and documenting findings.
Efficient time management to meet the demands of clinical workload and ability to support rapid analysis for critical patient needs.
Willingness to adapt responsibilities as related to changes in the field of genomics.
Assists with research, development, validation, and documentation of new genomic assays.
Participate and perform quality control/quality assurance activities related to molecular pathology.
Participates in procedure review and writing when requested.
Supports teaching and training efforts for employees, residents, students, team members and colleagues when requested.