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Genetics Analysis Specialist Jobs
Company | IWK Health |
Address | Halifax, Nova Scotia, Canada |
Employment type | FULL_TIME |
Salary | |
Category | Hospitals and Health Care |
Expires | 2023-08-10 |
Posted at | 10 months ago |
Click here to apply as an internal applicant.
- IWK Health, located in Halifax, Nova Scotia, is a tertiary care health center and the laboratories provide genetic services for the Maritime Provinces.
- The Clinical Genomics Division provides full-service integrated molecular and cytogenetic testing. In collaboration with the Maritime Medical Genetics Service and other clinical partners, the Division ensures timely and clinically actionable results required for appropriate patient care. The Genomics Lab also fosters positive relationships in education and research. The Clinical Genomics service has built partnerships with many research groups and provides teaching opportunities for Dalhousie University medical school students, residents, and fellows, as well as clinical placements for students in Genetic Technology training program.
- The Genetics Analysis Specialist position is a full-time position and is a staff member of the Clinical Genomics Laboratory, Department of Pathology and Laboratory Medicine at IWK Health. The successful candidate will combine understanding and expertise in genetics/genomics, bioinformatics, and biomedical research with experience in project management.
- The laboratory specialist will be accountable to the Chief of IWK Pathology & Laboratory Medicine.
- The Genetics Analysis Specialist is expected to participate in continuing education initiatives as well as scientific manuscript drafting.
- Develop clinically usable reports in partnership with medical staff in the Genomics Laboratory to provide data for the generation of clinical reports.
- Evaluation of available analysis programs and tools, design and implement Standard Operating Procedures (SOPs), protocols, and reports for the use of Next Generation Sequencing (NGS) in clinical testing.
- The Genetics Analysis Specialist is a key role, supporting the Division with technical expertise and mentorship, and helping to provide collaborative service to medical staff, maintain a high-quality Molecular Genetics service and bring new testing online to match clinical needs.
- Participate in genetic test development and development and implementation of new technologies.
- Analysis of NGS data, pipeline evaluation and assessment, as well as the use and maintenance of a robust provenance-tracking solution for NGS data (chain of custody for all analysis steps).
- Help create, manage, and extend analysis pipelines for human next generation sequencing (NGS) data, with a focus on variant detection in a wide variety of genetic disorders.
- Manage relevant computing resources, such as computing and data storage clusters, in partnership with the IWK Information Technology Group.
- Monitor the scientific literature for publications related to genetic variation.
- Participate in development of variant annotation pipelines and draft reporting templates.
- Maintain laboratory internal databases of genetic variation and supporting clinical and scientific literature databases.
- As a member of the Clinical Genomics team, the Genetics Analysis Specialist will work in a professional, collegial manner with technologists, the Clinical Genomics manager, and lab scientific and medical staff.
- Collaboration with colleagues in Maritime Medical Genetics and Nova Scotia Health are also key to success in this position.
- The successful candidate will act in accordance with the mission, values and goals of the Department of Pathology and Laboratory Medicine, IWK Health and the Nova Scotia Health Authority.
- Manage the regular review, processing, interpretation, and analysis of genetic variants.
- Data management expertise (including scientific, genetics/genomic and/or medical data)
- Strong written and verbal communication, collaboration, and problem-solving skills
- Demonstrated ability to collaborate, develop and maintain effective relationships within healthcare teams
- Experience writing and editing scientific materials for external audiences
- Candidates will have a MSc in genomics, bioinformatics or genetic counselling and experience working with clinical genomics data. Candidates with a Ph.D. in molecular biology, bioinformatics, genomics, genetics, or related field, and relevant experience may be considered.
- Experience in research related to human genetics or experience with genetic variant curation and interpretation of clinical relevance
- Demonstrated ability to attend work on a regular basis
- Demonstrated knowledge of and commitment to patient and staff safety at IWK Health
- Demonstrated flexibility and the ability to manage change in a dynamic environment (work assignment, procedures, priorities)
- At least 2 years’ experience, with developed comprehensive understanding and expertise in navigating multiple public data repositories, including data extraction (NCBI, UCSC, COSMIC, etc.); familiarity with commonly used algorithms for alignment and variant calling; experience developing NGS bioinformatics pipelines/tools; experience in variant pathogenicity classification (ACMG and/or AMP) as correlated with patient clinical findings; and experience developing content for clinical and research applications utilizing NGS.
- Proven excellence working in a team environment with strong interpersonal, communication and conflict resolution skills
- Experience working with human genetics data in research or clinical setting (preferred)
- Demonstrated knowledge of and commitment to the principles of patient and family centered care
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