Genomic Variant Analyst

Pathology

Full Time - Day Shift

The Genomic Variant Analyst performs initial review of genomic data and maintains knowledgebase for variant interpretation and reporting. This position serves as the liaison between the diagnostic laboratory and the health care providers. This individual works with pathology to triage incoming samples. This individual also assists with tasks related to test reimbursement. The Genomic Variant Analyst will also educate staff, residents/fellows, and students.

General lab workflow: •Follows all lab pre-analytical and post-analytical procedures covering sample triage and handling, data analysis, and preliminary review. •Reviews NGS data and investigates and annotates new variants •Triages all specimens to ensure adequacy for our testing. •Accessions all specimens into LIM system(s) as necessary. •Takes appropriate corrective action according to established procedures when data analysis deviates from acceptable level. Documents all corrective actions taken. Immediately notifies Manager or Director if unable to resolve test system problem. Ensures data is not reported until all corrective action has been taken and the pipeline is performing within specifications. • Quality management: • Participates in proficiency testing ensuring it is performed in the same manner as clinical specimens. • At the Manager’s discretion, maintains specified documents required for review by regulatory agencies. • Billing: • Works with billing department and insurance providers to maintain accurate billing information. • Additional responsibilities: •Manages clinician related discussions about the lab’s results (e.g. Molecular Tumor Board, etc). •Works with the rotating Fellows/Residents to interpret clinical NGS data and manage sample triage. •Fields internal and external inquiries about lab and test related questions. •Interacts with outside labs and institutions. •Contributes to publications. •Maintains professional certification and licensure, as appropriate •Performs other duties and responsibilities as assigned by the Manager or Director. • Performs duties in accordance with Penn Medicine and entity values, policies, and procedures • Other duties as assigned to support the unit, department, entity, and health system organization.

Master's Degree in Genetic Counseling, Human Genetics, or related fields, required.   Ph.D. in Genetic Counseling, Human Genetics, or related fields, preferred. 3+ years Previous experience working in a diagnostic laboratory, required.  Familiarity with oncology and next generation sequencing technology, preferred. Experience working with insurance providers, preferred.