Genetics Lab Annotation Specialist

This is a temporary full-time opportunity for up to six (6) months.

Sinai Health is a leading academic health science centre with a provincial, national and international reputation for discovering and delivering life-changing care. Since 5, we have provided excellent and compassionate care in hospital, community and home. Comprised of Mount Sinai Hospital, Hennick Bridgepoint Hospital, the Lunenfeld-Tanenbaum Research Institute and our system partner Circle of Care, we translate scientific breakthroughs, push boundaries for health solutions, and educates future clinical and scientific leaders.

Sinai Health is fully committed to a culture of belonging and an inclusive environment that attracts and retains a diverse workforce, at all levels of the organization, that reflects the communities we serve. We welcome applications from racialized persons, women, Indigenous persons, persons with disabilities, 2SLGBTQ+ persons, and those from diverse backgrounds and experiences. If you require accommodation (including, but not limited to, an accessible interview site, alternate format documents, ASL Interpreter, or Assistive Technology) during the recruitment and selection process, please let us know through the Accommodation Phone Line at --0, ext. 0, or email [email protected] .

To support us on our journey, Sinai Health is looking for a Genetics Lab Annotation Specialist to support Pathology and Laboratory Medicine, Diagnostic Medical Genetics at our Mount Sinai Hospital Campus .

This role will be shared between the cytogenetics and molecular diagnostics labs within the Division of Diagnostic Medical Genetics. It requires familiarity with genomic microarray technologies, cancer diagnostics and novel variant assessment and proficiency in genomic data interpretation.

Responsibilities Include, But Are Not Limited To

• Assist with the investigation of new genes and roll out of information when tests go live
• Review patient reports for completeness of testing information
• Assist with molecular and cytogenetic analysis by performing database and literature searches to provide evidence to assist with variant analysis
• Participate in quality assurance plans and activities as required
• Establishing phenotype-genotype links, reviewing a large spectrum of genetic disorders
• Assist with the assessment and implementation of new databases into the testing process
• Assist with quality improvements strategies and efficiencies related to cytogenetic and molecular data interpretations and assessments

Job Requirements

• Applicants with proven equivalent recent and related training and experience may be considered
• M.Sc. or Ph.D. degree in a related field from an accredited educational institution with a strong background in genomic database utilization
• Self-motivated and a team player with high degree of independence and professionalism to provide high-level genetics expertise to health care providers
• Expertise in pertinent areas such as microarray and sequence analysis, online human genomic resources, as well as fundamental knowledge in human genetics
• Demonstrated satisfactory performance and attendance history
• Minimum of one (1) year of demonstrated analytical and scientific competence with genetics concepts and/or genetic counselling experience
• Excelled time management and communication skills