Provincial Health Services Authority (PHSA)·Vancouver, British Columbia
Analyze genomic data, including assessing clinical relevance of genomic sequence variants in patients with rare disease.
Compile variant and case summaries to guide diagnostics.
Maintain records for evaluation and validation.
Create and support SOPs for workflows and pipelines.
Assist in accreditation and quality system maintenance.
Support development and maintenance of bioinformatics tools.
Facilitate genomic patient care, education, and case interpretation
Genome Analyst Division of Genome Diagnostics, Dept. of Pathology and Laboratory Medicine BC Children’s Hospital & BC Women’s Hospital, Vancouver, BC Temporary Full-time Opportunity Term: 1 Year The Division of Genome Diagnostics within the Department of Pathology and Laboratory Medicine at BC Children’s and BC Women’s Hospitals is seeking a highly motivated Genome Analyst to join our team. In this role, you will contribute to the interpretation and reporting of genetic variants, supporting accurate and timely diagnostic results for patients with rare diseases. Depending on your skills and experience, you will also assist in developing and maintaining clinical next-generation sequencing (NGS) bioinformatics infrastructure and/or liaise with patient care teams throughout the testing process. What you’ll do
Analyze genomic data, including assessing clinical relevance of genomic sequence variants in patients with rare disease.
Compile variant and case summaries in an organized approach to provide accurate and timely information to guide diagnostics.
Keep accurate records of data collected for evaluation and validation and prepare data for review and approval.
Create, support, and maintain standard operating procedures (SOPs) for workflows and pipelines as part of the Laboratory’s Quality Management system.
Assist Medical and Operational staff in accreditation processes and the maintenance of a quality system in the laboratory. Depending on skills and experience, you may also
Support the integration, development, and/or maintenance of bioinformatics tools and pipelines.
Facilitate and support genomic patient care, including education and case interpretation. What you bring
A level of education, training, and experience equivalent to a PhD in medical genomics, human genetics, bioinformatics, computational biology, molecular biology, biochemistry genetics, computer science, or information technology (or related discipline), plus a minimum of 3 years of recent related experience.
Note: Exceptional candidates with a level of education, training and experience equivalent to a Master’s program in a related discipline such as Medical Genomics or Genetic Counselling, plus a minimum of three (3) years of recent related experience, will be also considered.
Demonstrated proficiency in genomic analysis, with experience in validation of clinical bioinformatic tools and pipelines or the provision of clinical laboratory genetic counselling services. Relevant experience within a clinical environment is ideal.
Superior interpersonal and communication skills with an ability to work with individuals at all levels throughout the organization.
Excellent time management skills.
Demonstrated ability to anticipate and respond to the needs of stakeholders.
$108,147 - $155,461/year. The starting salary for this position would be determined with consideration of the successful candidate’s relevant education and experience and would be in alignment with the provincial compensation reference plan. Salary will be prorated accordingly for part time roles. Applications will be accepted until position is filled. What we do The Department provides laboratory and pathology diagnostic care to BC’s perinatal women, infants, and children, including those with the most acute and complex conditions, and includes provincial specialty laboratories such as prenatal screening, newborn screening, biochemical genetics, and inherited constitutional genetics and genomics. The Department’s responsibilities include working collaboratively within health authorities to establish provincial standards and guidelines, leading pilot projects assessing clinical utility of emerging diagnostic and screening technologies, and contributing to and participating nationally and internationally to promote access to appropriate laboratory care and best practices within BC. The Division of Genome Diagnostics is responsible for providing academic pediatric, adult, and maternal-fetal medicine care for the province of BC in conjunction with the other Departmental provincial services, primarily focused on the diagnosis of inherited disease using genetic and genomic approaches, including genome-wide sequencing. Join this dynamic team, which aims to be flexible, adaptable, and responsive in this rapidly evolving medical field. BC Women’s Hospital (BCWH) is dedicated to improving the health of women, newborns and families through a comprehensive range of services, research and education. BC Children’s Hospital (BCCH) provides care for the most seriously ill or injured children and youth from across British Columbia. BCWH & BCCH are programs of the Provincial Health Services Authority (PHSA), which provides specialized health care services across BC. PHSA is committed to excellence. Our values reflect our commitment to excellence and include: Respect people – Be compassionate – Dare to innovate – Create equity – Be courageous. PHSA, BCWH & BCCH are committed to anti-racism and equity in our hiring and employment practices. With learning and compassion, we are addressing existing inequities and barriers throughout our systems. PHSA is seeking to create a diverse workforce and to establish an inclusive and culturally safe environment. We invite applications and enquiries from all people, particularly those belonging to the historically, systemically, and/or persistently excluded groups identified under the B.C. Human Rights Code. One of PHSA’s North Star priorities is to eradicate Indigenous-specific racism, which includes ongoing commitments to Indigenous recruitment and employee experience as well as dismantling barriers to health care employment at every level. We welcome Indigenous individuals to apply and/or contact the Sanya’k̓ula Team (Indigenous Recruitment & Employee Experience) for support at indigenous.employment@phsa.ca. Indigenous-specific anti-racism initiatives are rooted in addressing the unique forms of discrimination, historical and ongoing injustices, and exclusion faced by Indigenous peoples. These initiatives align with an Indigenous rights-based approach, recognizing the inherent rights and title of BC First Nations and self-determination of all First Nations, Inuit and Métis communities. PHSA is mandated to uphold legislative obligations and provincial commitments found in the foundational documents including the Truth & Reconciliation Commission’s Calls to Action (2015), In Plain Sight (2020), BC's Declaration on the Rights of Indigenous Peoples Act (2019), United Nations Declaration on the Rights of Indigenous Peoples (UNDRIP), Reclaiming Power and Place Missing and Murdered Indigenous Women & Girls Calls for Justice (2019), the Declaration Act Action Plan and Remembering Keegan: A First Nations Case Study.
PhD or Master’s equivalent in medical genomics, human genetics, bioinformatics, or related field with at least 3 years of recent experience; proficiency in genomic analysis and clinical bioinformatics; excellent communication and time management skills.
Market context
In British Columbia, genome analysis roles in hospital pathology and laboratory medicine are typically driven by ongoing demand for clinical interpretation, bioinformatics support, and coordination with multidisciplinary care teams. This role is competitive because it combines advanced genomics training, recent hands-on analysis experience, and strong communication in a pediatric and women’s health setting. Review the AI-summarized requirements and benefits here to save time, then tailor your application to recent clinical genomics projects and workflow experience.
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