Trillium Health Partners

Analyst

• Investigate clinical significance of sequence, copy number and structural variants found by microarray, NGS assays and Optical Genome Mapping
• Search internal datasets, published literature, online mutation databases and academic resources for information on variants detected in clinical testing
• Interpret clinical significance of variants using ACMGG or CAP/AMP/ASCO Guidelines
• Prepare variant assessment summaries
• Draft clear and concise clinical genetic testing reports
• Work closely with Laboratory Geneticists to ensure reporting standards are met or exceeded

Genome Analyst – CVH Molecular Genetics

Consultant

• Support, advise, and oversee health informatics matters for applications in the Applications I.S. Team Portfolio
• Support, maintain, and implement hospital applications
• Provide applications support, systems integration analysis, and vendor management
• Liaise with departments, clinical staff, end users, IT teams, and vendors on issues, projects, and rollouts
• Identify opportunities to innovate, enhance, and increase application service delivery
• Assist with problem management activities
• Analyze, design, and implement solutions for clinical, financial, and administrative applications
• Monitor system performance, troubleshoot issues, and minimize downtime for clinical users
• Translate operational needs into technical specifications
• Develop and document technical specifications, workflows, and user training materials
• Support system integration, data interoperability, privacy compliance, and regulatory requirements
• Project manage application upgrades and new system implementations
• Test new systems, version upgrades, interfaces, and system modifications
• Provide escalation support to the Applications Support team during business hours
• Participate in system patching and security vulnerability mitigation
• Document and maintain application profiles for Information Services
• Participate in disaster recovery planning and go-live support for new deployments
• Maintain knowledge of healthcare IT trends, interoperability standards, and regulatory updates

Genome Analyst – CVH Molecular Genetics

Application Support Consultant