Genomic Lab Variant Analyst - Molecular Biology Full-Time Days

Northwestern Memorial Healthcare•Chicago, IL

7h•$45 - $61

About The Position

The Genomic Lab Variant Analyst reflects the mission, vision, and values of NM, adheres to the organization’s Code of Ethics and Corporate Compliance Program, and complies with all relevant policies, procedures, guidelines and all other regulatory and accreditation standards. The Genomic Lab Variant Analyst performs data analysis in a clinical laboratory and assists the laboratory physicians convey the results to the physician or designee in an accurate and timely manner for the purpose of patient diagnosis and treatment.

Requirements

Master or PhD degree in genetics or related sciences (human genetics, molecular genetics, neurogenetics or cancer genetics)
Strong background in human genetics, next-generation DNA sequencing and/or knowledge of advanced methods for copy number detection.
Experience in rare disease analysis and sequence variant interpretation.
Familiarity with genomic data, tools and databases such as ClinVar, ExAc/gnomAD, OMIM, HGMD.
Proven ability to critically read and interpret scientific literature.

Nice To Haves

Computer programming, database design, and/or bioinformatics experience strongly preferred.
Relevant License/Certification as applicable

Responsibilities

Performs interpretation of genetic sequence variation identified through diagnostic clinical genetic testing, mainly pertaining to gene panels and exome analysis performed by Next Generation Sequencing (NGS)
Uses in-house developed NGS analysis software to analyze and interpret genetic variation in Oncology testing and patients with rare diseases
Presents results and progress at sign out meetings
Evaluates relevance of genes to human disease and is able to classify variants based on Association of Molecular Pathology (AMP) tiering guidelines.
Supports activities of the molecular diagnostic lab pertaining to new test and technology development
Participates in the drafting of clinical molecular diagnostic reports if and when required
Participates in education and mentorship of other analysis staff and collaborators through direct interaction and presentations
Assists in preparation of manuscripts and presents at local or national professional conferences
Participates in collaborations with other clinical or research laboratories
Trains laboratory personnel as it relates to variant analyses.
Leads the contributions to scientific writing and publications, including protocols and grants
Performs other related work as needed
Recognizes when fraud and abuse compliance issues require adjustments to the test order
Performs all aspects of post-analytical testing appropriate for the specific laboratory section, following established written protocols and standard operating procedures (SOP)
Performs and records all necessary quality control (QC) required for test system performance.
Evaluates QC results and takes necessary corrective actions according to established protocol.
Prioritizes analysis based on assignment or established priorities, completes analysis within defined turn-around-times (TAT).
Recognizes the need for and follows-up any specific protocols
Responds effectively to changes in the workflow by coordinating a simultaneous series of analysis when needed or adjusting work to incorporate STAT analysis or fluctuations in work volume.
Monitors daily workflow and priorities to assure meeting service levels.
Reviews results for completeness, correctness, and consistency within defined analytic system
Evaluates results and provides accurate interpretations as appropriate to include correlation with, and integration of, other patient data as necessary.
Performs visual interpretation/identifications as appropriate.
Recognizes unusual results/interpretations and completes indicated reflex testing or other follow-up actions.
Follows established notification protocols for critical values, phone/fax/e-mail results requests, abnormalities.
Recognizes analytic system performance problems and takes necessary corrective actions
Recognizes when unresolved problems need to be escalated and takes necessary follow-up action.
Prints pending logs and follows-up to ensure pending analysis are completed or cancelled when appropriate.
Stores data and related electronic files according to protocols for location and duration.
Retrieves data and related electronic files when needed
Performs all aspects of the post-analytical workflow appropriate for the specific laboratory section to ensure accurate results are reported within established time frames, files are retained appropriately, analytical results and/or current status are available upon inquiry, and billed charges are correct for analysis performed.
Verifies results according to procedure.
Performs computer functions necessary for releasing results.
Generates written reports according to established protocol.
Reviews electronic or printed reports when applicable, recognizes problems and escalates according to protocol.
Corrects erroneous reports and amends reports according to procedure
Responds to requests for information according to established protocol for confidentiality and release of information
Recognizes when unresolved inquiries need to be escalated and takes action.
Stores documents and records according to established protocol.
Performs billing and/or enter credits for results and services when applicable.
Recognizes billing problems and escalates accordingly.
Follows written standard operating procedures (SOP).
Operates instruments/equipment according to protocol.
Uses computers according to established protocol; follows downtime procedures as required.
Performs required quality system responsibilities
Meets proficiency and competency standards of the department.
Participates in the training of new employees, physician trainees and students
Performs operational review of new SOPs.
Participates in new test development, validations and implementation.
Attends at least one personal development session per year
Performs other duties as assigned, or as needed, to ensure continued quality operations
Follows all required safety procedures, uses personal protective equipment (PPE) appropriate for tasks performed.
Maintains cleans and organized work area
Answers telephone when needed, using NM telephone etiquette
Maintains patient confidentiality including protected health information (PHI)
Assists patients, visitors and other contacts whenever need occurs