Molecular Specialist Molecular Biology

The Molecular Specialist position is a staff member of the Advanced Diagnostics Department reporting to the Clinical Manager Advanced Diagnostics. The Molecular Specialist will work with pathologists/hematopathologists and medical laboratory technologists/assistants within the Advanced Diagnostics Division and wider Department of Laboratory Medicine to provide comprehensive somatic genetic testing and reporting for solid tumours and hematological malignancies. This position will combine understanding and expertise in genetics/genomics bioinformatics and biomedical research. The Molecular Specialist will serve as a subject matter expert in genetics and genetic variant interpretation as well as providing technical expertise in bioinformatics pipeline management optimization and troubleshooting in addition to various other related duties as required.

Accountabilities:

• Perform a preliminary assessment of NGS results identifying potentially actionable pathogenic or clinically relevant variants.
• Analyze review and interpret genetic variants from NGS and qPCR-based assays for solid tumors liquid biopsy and future assays (cfDNA/cfRNA) testing in cancer patients including the identification of gene fusions
• Draft preliminary reports that summarize key findings and variant interpretations for review and final sign-out by the Molecular Pathologist and other staff Pathologists.
• Lead as the primary resource of subject matter expertise and technical content for internal managers directors lab medicine clinicians and the technical team (MLAs and MLTs); including external laboratories vendors and oncologists.
• Develop manage and optimize bioinformatics pipelines for NGS data analysis including alignment variant calling annotation and quality control.
• Troubleshoot data processing errors and liaise with sequencing platform vendors (e.g. Thermo Fisher) for technical support.
• Manage secure data storage and computing infrastructure in collaboration with IT teams ensuring compliance with hospital data privacy standards.
• Draft and update standard operating procedures (SOPs) protocols and report templates specific to molecular oncology workflows.
• Participate in the development analysis evaluation and implementation of new genetic assays and/or technologies
• Troubleshoot complex molecular test system issues including software hardware and reagent-related problem in coordination with internal teams and external vendor technical support.
• Participate in the preparation of policies processes and procedures within the quality system to ensure effective operation/compliance with IQMH laboratory accreditation requirements 
• Lead validation efforts for newly developed molecular tests including preparation of validation plans documentation and result analysis.
• Contribute to the quality assurance program and laboratory accreditation compliance (IQMH or equivalent) including participation in internal audits and external proficiency testing.
• Participate in continuing education initiatives as well as supporting quality assurance or research projects
• Lead in teaching and training relevant medical and technical trainees in variant detection and interpretation
• Lead in teaching and training relevant medical and technical trainees in variant detection and interpretation
• Supervise summer student research project (SSRP) students
• Present data and findings at internal and external meetings sharing insights and expertise with the broader molecular diagnostics and oncology community
• Stay current with advances in clinical genomics and participate in ongoing professional development and continuing education initiatives.
• Contribute to preparation of scientific manuscripts presentations and posters for academic opportunities

Qualifications :

• Masters degree in medical Genomics Molecular Biology Bioinformatics or related field required
• 2 years of experience in clinical Next-Generation Sequencing (NGS) data tools workflows and data analysis (somatic solid tumor and/or liquid biopsy preferred) interpreting data generated from best-practice pipelines for analyzing NGS data such as variant calling pipelines for genome sequencing
• Technical expertise in a broad range of molecular biology methodologies (nucleic acid extraction methods primer and probe design and real-time-PCR among others) and hands-on experience with sequencing modalities including Sanger sequencing and Next-Generation Sequencing.
• Proven familiarity and expertise navigating various public data repositories including data extraction (OncoKB cBioPortal Franklin MyCancerGenome COSMIC ClinVar UCSC NCBI etc.); understanding commonly used algorithms for alignment and variant calling; and experience using pathogenicity criteria (AMP or ACMG) as correlated with patient clinical findings
• Experience working with next-generation sequencing data: sequencing quality control sequence alignment variant calling and annotation RNA-sequencing analysis germline and somatic mutational events copy number variants etc.
• Data management expertise including experience developing and maintaining NGS bioinformatics pipelines.
• Experience publishing scientific work writing and editing scientific materials for external audiences
• Ability to work well under pressure prioritize issues/workload and complete assigned tasks
• Demonstrated ability to pay close attention to detail and make decisions based on knowledge/experience
• Self-motivated and a team player with a high degree of independence and professionalism to provide high-level genetics expertise to health care providers
• Must demonstrate Oslers Values of Respect Excellence Service Compassion Innovation and Collaboration

Additional Information :

Hours: Currently Days/Evenings including weekends and statutory holidays (subject to change in accordance with operational requirements)

ANNUAL SALARY:
Minimum: $101517.00
Maximum: $126886.50

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Remote Work :

No

Employment Type :

Full-time