Medical Laboratory Scientist (Variant Curation)

TRAIL (Translational Research and Innovation Lab) aims to bring precision medicine and genetics to the forefront of clinical care.

The Medical Laboratory Technologist / Scientist will be required to curate and maintain comprehensive genetic variant databases, ensuring the accuracy and clinical relevance of genomic information used in patient diagnosis and treatment. Working within our scientific team, you will analyse complex genetic data, interpret variant classifications, and collaborate with clinical geneticists and molecular scientists to support evidence-based genetic testing services.

This role requires expertise in genomic data analysis, literature review, and database management, as you'll be responsible for evaluating the clinical significance of genetic variants and maintaining up-to-date curation standards.

The roles and responsibilities will include (but not limited to) the following:

• Perform genetic analysis and specialised investigations including variant calling, annotation, and clinical interpretation of genetic variants
• Conduct bioinformatics analysis using established pipelines and software for next-generation sequencing data processing
• Prepare comprehensive genetic reports with accurate variant classification according to established guidelines
• Establish, implement and monitor quality control programs specific to genetic testing workflows
• Assist in development and validation of genetic assays for translation into clinical use, including analytical validation studies
• Assist in operation and maintenance of equipment used for genetic sequencing and analysis in the laboratory
• Attend to laboratory service enquiries, providing accurate information about genetics test requirements, variant interpretation timelines, and procedures to healthcare professionals and clients
• Provide support for collaborative research projects through active participation and literature search in genetics and variant interpretation
• Maintain good records of all experimental data, variant databases, appropriate charts and tables for genetic analyses
• Stay current with developments in genomic medicine, variant interpretation guidelines, and regulatory requirements

Job Requirements:

• Possessed a Master’s degree in Biomedical Science, Biological Science, Medical Technology, Genome Analytic or equivalent
• Formal qualification (i.e., Fellowship in Genetic Pathology from the RCPA or AMP Molecular Genetic Pathology Review Course or equivalent) in molecular genetics, or related field with demonstrated competency in variant calling and reporting
• Minimum 3 years of relevant job experience and demonstrated competency
• Familiarity with Mendelian genetics and a thorough knowledge of molecular genetics
• Experience with Genomics Viewer software, genomic data analysis software and variant interpretation databases
• Knowledge of clinical genomics standards and guidelines for variant classification