Principal Clinical Scientist (Molecular Genetics)
Principal Clinical Scientist
Full Time
Virtus Diagnostics Revesby
Overview of Responsibilities
The Principal Clinical Scientist in Molecular Genetics provides senior scientific and clinical leadership to ensure the delivery of accurate, high-quality molecular genetic reports. This role will oversee all aspects of the testing process, spanning validation of new technologies, management of quality systems, resolution of complex findings and concise communication of results to clinicians. In parallel, they contribute to workforce career development through training and mentorship and drive continuous service improvement, research and innovation in response to evolving technologies ensuring genomic pathology services remain effective and efficient.
The Principal Clinical Scientist plays a critical role in ensuring that clinical policies and procedures for variant curation are performed according to applicable clinical guidelines, in collaboration with the Medical Laboratory Director – Genetics. The incumbent will collaborate closely with clinicians, genetic counsellors and laboratory staff to ensure optimal patient care.
Internal contacts:
VHSD Medical Laboratory Director Genetics, VHSD Clinical Director, VHSD Laboratory staff
External contacts:
Relevant suppliers, patients, and referrers
Specific responsibilities
Scientific Leadership and Supervision
Oversee the full testing cycle in the laboratory, including wet laboratory, bioinformatics, analysis, and interpretation of molecular genetic tests. The methodologies include but not limited to Sanger sequencing, Capillary Electrophoresis (MLPA, Fragment analysis) and Massive Parallel Sequencing
Provide day-to-day scientific supervision of pathology services within the scope of practice and clinical governance structures
Maintain the laboratory variant knowledgebase, internal gene‐specific resources, standard operating procedures and assist with curation and harmonisation of variant classification to international and local guidelines
Lead and develop the delivery of accurate curation through continued automation of the variant analysis pipeline for efficient handling of cases without compromise to quality.
Critically evaluates and assesses relevant databases and information accurately to ensure timely variant assessment, including evaluation of published literature and applying current best practices (e.g. ACMG).
Clinical Reporting and Communication
Oversee authorisation and reporting of all molecular genetics results
Provides expert consultation to clinicians, advising on testing reports,



potential testing options and any limitations (for example coverage gaps, mosaicism, structural variants)
Be the point of escalation for complex clinical curation and reporting enquiries, including escalation of urgent results
Advises clinicians on test selection, reflex strategies and clinical implications of findings, including secondary or incidental findings.
Analytical Performance
Oversees the analytical performance of capillary electrophoresis, Next Generation Sequencing and other genetic laboratory testing techniques. Defines, implements and monitors standards of performance
Design, lead and document validation and verification of new assays, instruments and bioinformatics pipelines
Reviews run and sample‐level quality metrics, recognises atypical results/patterns and initiates troubleshooting or corrective actions
Quality and policy
Acts in accordance with the laboratory's quality system, ensuring that laboratory activities adhere to appropriate regulatory standards such as standards listed in the ACSQHC, TGA, ISO, NATA and NPAAC
Participates in auditing processes, review of laboratory policies and procedures and support implementation of corrective actions as required.
Leads timely testing and submission of external QAP samples, reviewing results, and ensuring pathologist review
Performs timely and comprehensive review of non‐conformances, complaints, and other identifiable risks within the department
Resolves or escalates any laboratory deviations from established procedures and guidelines
Maintains and audits risk assessments, staff competency and record retention across all genomic services
Lead the development, review and implementation of laboratory policies in collaboration with laboratory leadership
Education, Training and Mentorship
Provide structured training and mentor other staff (scientists, pathologists and genetic pathology registrars) in the department across various workflows, including clinical and analytical principles, performance, interpretation and reporting
Ensures systematic educational and training programmes are available for the laboratory, aligned with testing services offered
Lead analytical competency assessment and training of scientists/technicians, ensuring appropriate training record documentation and supporting continued competency development




Participation in both internal continuing professional development (CPD) activities such as journal clubs and external activities of relevant organisations such as HGSA, RCPA and FSA.
Research, Innovation, Ethics and Other
Leads activities to support continuous service improvement and innovation, including evaluation and implementation of new testing methodologies and validation of current assays to address unmet clinical needs.
Promote ethical use of genomic testing, data storage, privacy and appropriate consent pathways
To support as required on projects and duties for the Medical Laboratory Director – Genetics or Head of Department – Molecular Genetics as directed
Liaise and coordinate with Scientific Directors/Principal Scientists in other Virtus Diagnostics Genetics laboratories as required
Deputising for the Head of Department when required
Collaboration in both internal research projects within Virtus and external projects, where feasible
Minimum Qualifications and Experience
Fellowship of the Faculty of Science, Royal College of Pathologists of Australasia (FFSc (RCPA)),
or
Fellowship of the Human Genetics Society of Australasia (FHGSA) and/or;
A relevant doctoral qualification (PhD or equivalent) in molecular genetics, genomics, human genetics or a closely related discipline
At least 15 years of experience working in an accredited diagnostic genomics laboratory, including at least 5 years in a senior scientific or leadership role.
Extensive experience in clinical laboratory practice, including validation/verification of assays, interpretation and classification of inherited germline variants, genomic variation and authorisation of genetic reports
Extensive knowledge and application of variant classification guidelines for genomic testing including ACMG/AMP, ClinGen and ACGS recommendations.
Extensive knowledge of laboratory quality management systems and accreditation requirements, including NPAAC and ISO *****, with demonstrated experience maintaining compliance in an accredited diagnostic laboratory
Excellent written, verbal and interpersonal communication skills, with demonstrated ability to lead multidisciplinary projects, prepare scientific and technical documentation, deliver presentations, and communicate effectively with pathologists, clinicians, scientists, laboratory staff, executive leadership and external stakeholders.
Demonstrated leadership in the training, mentoring and professional development of scientific staff, including competency assessment, performance feedback and fostering a culture of continuous learning.
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📌 Principal Clinical Scientist (Molecular Genetics) (Sydney)
🏢 Virtus Diagnostics
📍 Sydney