Team Leader - Inherited Disease

Healius; Melbourne; On-site; AUD 150,000 - 230,000; Full time

Job summary

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.

Responsibilities

• 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.

Skills

Genomic diagnostics

Leadership

NGS data interpretation

Whole exome/genome sequencing

Quality management

Automation

Stakeholder liaison

Clinical reporting

Education

Masters in diagnostic genomics

PhD (preferred)

FHGSA / RCPA Fellowship (or equivalent)

Tools

NGS workflows

Data analysis pipelines

QC/QAP systems

Job description

Join Genomic Diagnostics, the national genomics service for Healius Pathology, and work at the cutting edge of clinical genomics in inherited disease.

This is an opportunity for a senior subject matter expert to shape how we respond to growing test volumes and evolve our genomics services through new technologies, automation and digital tools. What makes this role stand out is the opportunity to leverage your leadership, technical and clinical skills to play a key role in advancing our genomic testing capabilities.

If you’re a senior or clinical scientist looking to step into a leadership position, this is a role for you! You’ll be part of a collaborative and supportive environment where your expertise can make a real impact during an exciting period of transformation and innovation.

About Us

Genomic Diagnostics provides comprehensive genomic testing, spanning oncology, reproductive health, inherited disease and pharmacogenomics, 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.

Genomic Diagnostics is part of Healius, one of Australia’s leading healthcare companies, providing the scale and backing of a national diagnostics network. Healius operate more than 80 medical laboratories and approximately 2,000 patient collection centres across metropolitan, regional and remote communities throughout Australia.

About the Role

As the Inherited Disease Team Leader, you will be a trusted senior member of the Genomic Diagnostics team based at our Heidelberg laboratory, providing high-level clinical and scientific expertise across the inherited genomics portfolio. You’ll work closely with pathologists, clinicians and laboratory colleagues to deliver high-quality inherited disease testing and drive improvements in testing quality, turnaround times and scientific rigour.

Key responsibilities:

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.

About You

You are an experienced senior or clinical scientist with deep expertise in genomic diagnostics and strong scientific judgement. You're confident interpreting complex NGS data, experienced in managing high-complexity testing and comfortable operating at a leadership level within a clinical laboratory environment. You're motivated by the opportunity to apply your specialist knowledge to challenging inherited genomics cases and shape the development of a growing service.

To be successful, you will need to meet the mandatory requirements:

A relevant tertiary qualification in Science/Medical Science, with a Masters in diagnostic genomics or equivalent.

Highly regarded: 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.

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Benefits, Perks and Wellbeing

At Healius, we offer a range of benefits designed to support your wellbeing, lifestyle and career, including:

Access to retailer discounts and perks through the Flare Benefits platform

Health and financial benefits, including access to Fitness Passport, corporate health insurance discounts, banking benefits, novated leasing and salary packaging options

Free and confidential wellbeing support through our Employee Assistance Program (EAP)

Discounted childcare and babysitting services via Kiddo

Access to online learning, courses and development pathways to support your career growth

Our Commitment to Diversity and Inclusion

Healius is an equal opportunity employer committed to fair, inclusive and merit-based recruitment practices. We strive to build diverse teams that reflect the communities we serve, valuing people across different life stages, genders, cultural backgrounds, ages and professional experiences. All applicants are assessed equitably based on their ability to meet the requirements of the role.

Healius is part of the Commonwealth Government's Veteran Employment Commitment (VEC) and has been recognised as a Veteran Employment Supporter. We encourage applications from veterans and candidates with Australian Defence Force (ADF) experience.