Senior Leader, Inherited Disease Genomics

Healius; Melbourne; Sur place; AUD 150 000 - 230 000; Plein temps

Résumé du poste

Genomic Diagnostics, part of Healius, Heidelberg, Australia, invites a senior Inherited Disease Team Leader to shape testing in inherited genomics and lead diagnostic reporting. You will oversee the exome/genome sequencing workflow, mentor scientists and liaise with pathologists and clinicians to ensure high-quality genomic reports and compliance with ISO15189/NPAAC standards.

Join a collaborative team driving automation and continuous improvement to meet growing test volumes and advance genomic

Qualifications

• Relevent tertiary qualification in Science/Medical Science, with a Masters in diagnostic genomics or equivalent.
• PhD, FHGSA (Molecular Genetics) or Fellowship of RCPA – Faculty of Science, or equivalent professional fellowship.
• Significant clinical or diagnostic laboratory experience (ideally 8+ years) within genomics, molecular pathology or related disciplines.
• Strong experience with whole exome and/or whole genome sequencing, including variant curation, interpretation and clinical reporting.
• Experience in analysis and reporting of carrier screening, hereditary cancer, somatic oncology, and/or haematological neoplasms.
• Experience with laboratory automation and emerging genomic technologies
• Demonstrated ability to produce high-quality, clinically robust genomic reports in a diagnostic environment.
• Strong understanding of QC, QAP, troubleshooting, and experience operating within NATA/ISO15189 and NPAAC frameworks.
• A track record of contributing to laboratory or service improvements, with a focus on scientific accuracy, efficiency and diagnostic quality.

Responsabilités

• Oversee and guide a team of scientists, technicians and pathology assistants in the inherited disease stream.
• Oversee and manage the whole exome (or genome) sequencing workflow, including library preparation, sequencing, data analysis, curation and reporting.
• Perform variant analysis and clinical interpretation, and prepare, review and authorise high-quality inherited disease genomic reports.
• Liaise with internal stakeholders (Chief Scientist, Genetic Pathologist, Clinical Geneticist and Genetic Counsellor) on triage, variant analysis and reporting of whole exome and genome sequencing data.
• Ensure all testing and reporting meet NPAAC/NATA ISO 15189 requirements and internal quality standards.
• Maintain high standards of laboratory practice, including documentation, QC, QAP participation and equipment oversight.
• Provide subject matter expertise to scientists, trainees and clinical colleagues on variant curation and complex case interpretation.
• Drive workflow optimisation, automation and continuous improvement to support increasing testing volumes, turnaround times and service development.
• Escalate complex, abnormal or urgent results appropriately to senior scientific and clinical stakeholders.

Connaissances

Genomic diagnostics

Leadership

NGS data interpretation

Whole exome/genome sequencing

Quality management

Automation

Stakeholder liaison

Clinical reporting

Formation

Masters in diagnostic genomics

PhD (preferred)

FHGSA / RCPA Fellowship (or equivalent)

Outils

NGS workflows

Data analysis pipelines

QC/QAP systems

Description du poste

Genomic Diagnostics, part of Healius, Heidelberg, Australia, invites a senior Inherited Disease Team Leader to shape testing in inherited genomics and lead diagnostic reporting. You will oversee the exome/genome sequencing workflow, mentor scientists and liaise with pathologists and clinicians to ensure high-quality genomic reports and compliance with ISO15189/NPAAC standards.

Join a collaborative team driving automation and continuous improvement to meet growing test volumes and advance genomic