Genomic Diagnostics is the national genomics service for Healius Pathology. We provide comprehensive genomic testing, spanning reproductive health, inherited disease, pharmacogenomics, oncology, and relationship testing, to an extensive network of public and private hospitals and community referrers across Australia. Our primary focus is to provide high quality and timely genomic information to assist in diagnosis and clinical decision-making.
About the role: The Senior Scientist requires a high level of technical and scientific knowledge in diagnostics genomics, including massively parallel sequencing and variant curation (constitutional and/or somatic), across key test areas including familial cancer predisposition, reproductive and paediatric genomics, and somatic oncology including both solid tumours and haematological neoplasms.
The Senior Scientist will perform designated genetic testing procedures and will possess the technical skills capable of and required to work in all facets of a multi–sectional laboratory as necessary.
Key responsibilities include: Perform analysis (including variant curation) and interpretation of test results.Report writing, review and authorisation of test results.Ensure adherence to NPAAC/NATA ISO15189 requirements, internal protocols, and clinical guidelines.Provide expert advice in laboratory setup, sequencing and troubleshooting of genomic assays.Work closely with the leadership team for new assay development and validation (NGS as well as non-NGS methods).In collaboration with leadership team, develop and implement improvements to NGS-related assays, including assay design, test setup, variant curation, and reporting.Training other Scientists, Genetic Pathology trainees and Faculty of Science candidates (especially for variant curation).Promote a collaborative, inclusive and positive team environment and maintain a patient-centred culture.Provide technical and scientific expertise to the analytical and pre-analytical team, within the area of experience.Drive continuous improvement in laboratory processes and collaborate with other team members to optimise testing related activities.Maintain good laboratory practices in line with NPAAC/NATA guidelines, and as per GD protocol.Raise abnormal, urgent, or time-sensitive requests appropriately to the relevant team leader, Chief Scientist, Clinical Director or Pathologist.Contribute to internal and external quality control and equipment maintenance activities are completed within pre-determined timeframes and recorded as per the quality team's requirement & NPAAC/NATA guidelines.About you: To be considered for this position, you will need to meet the essential requirements:
Masters in diagnostic genomics or equivalent.PhD/ FHGSA/ Fellowship of RCPA- Faculty of Science – desirable.Previous experience with Whole Exome/ Genome Sequencing.Experience in variant curation.Knowledge in the field of NIPT, inherited cancer, reproductive genetics, neurodevelopmental genetics, and genetics of haematological disorder is highly desirable but not essential.Knowledge of tertiary analysis platforms is desirable.Demonstrated experience, knowledge, expertise and skills within the respective discipline.Knowledge of the Ultra (Triple G) computer system would be an advantage.Sound knowledge of QC, QAP and troubleshooting.Demonstrated ability to identify, develop and implement quality and service improvement activities in accordance with NATA/ISO accreditation/certification.Self-initiative and problem-solving capabilities.This role may require additional vaccination history and evidence for department specific vaccine preventative diseases.Benefits and Wellbeing: A marketplace of exclusive discounts and vouchers from leading Australian and online retailers.Corporate health insurance discounts, banking benefits and novated leasing consultations.An e-learning platform with access to a library of courses and learning paths.An Employee Assistance Program dedicated to employee health and wellbeing provided by professional coaches.Fitness Passport - access fitness centres across Australia at a subsidised rate.Career growth opportunities across the Healius network.Being a part of a large ASX-listed organization focused on delivering positive outcomes to all Australians.Our commitment to diversity and inclusion: Genomic Diagnostic is an equal opportunity employer committed to creating an inclusive workplace. We seek to recruit from diverse applicants and create teams with skills, perspectives and experiences that complement each other at work. We welcome suitably qualified applicants regardless of age, ethnicity, socio-cultural background, disability, sexual orientation or gender identity.
Genomic Diagnostic is committed to providing a safe working environment and taking all reasonably practicable steps to ensure that its people and the community are protected against vaccine-preventable diseases. The Australian Immunisation Handbook lists the immunisations recommended for health care workers.
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