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Scientist - Clinical Genomics Service Specialist

Murdoch Childrens Research Institute
  • Requisition ID: 32634 

Who Are We?

Victorian Clinical Genetics Services (VCGS) is an innovative global leader in genetic screening and diagnostic services at a national and international level. We provide a wholly integrated genetic testing, diagnostic and counselling service for health professionals, patients and their families across Victoria, Australia and globally. Our focus on collaboration between medical scientists, clinical geneticists, genetic counsellors and bioinformaticians provides the most accurate interpretation for complex genetic tests.

VCGS also plays a pivotal role in research and development, driving research translation and policy development in the field of genetics and genomics. VCGS is a not-for-profit subsidiary of the Murdoch Children's Research Institute, located at the Royal Children’s Hospital in Melbourne.

We are committed to ensuring a positive working environment that values all backgrounds and experiences. We cultivate an inclusive culture that is underpinned by equal opportunity for all and a culture based on respect, consideration and dignity. We are also committed to developing our people and fostering an environment where learning and development is central to our staff reaching their full potential.

About The Clinical Genomics Service

Despite 1 in 17 Australian developing a rare genetic disease, it can take up to 5 years for patients to get a diagnostic and be able to receive appropriate clinical care. As leading innovators in our field with a determination to help patients with a rare genetic disease, we apply cutting edge genomic technologies and analyses to solve this significant clinical problem. We are one of only a few laboratories in the world that can perform ultra-rapid genomic testing at scale. We are leading innovators in our field and are working closely with national and international partners to improve all aspects of clinical genomic service deliver, with a key goal is to benefit as many patients as possible.

Your Opportunity:

Working for this globally leading genomics service, the Clinical Genomics Service Specialist (Scientist) will be responsible for ensuring technical and procedural aspects of the VCGS Genomics Service are maintained to highest national and international standards. You will contribute to routine service delivery tasks including variant and gene analysis, interpretation, and reporting, to ensure the continued consistent delivery of a high-quality clinical service. Additionally, you will maintain the Service operations to the level of competence required for high impact.

You will work as part of a dynamic and world-leading team of expert clinical scientists, clinical bioinformaticians, clinicians, and genetic counsellors, researchers and business development specialists, and report to the Head of the Division of Genetics and Genomics. In consultation with your supervisors and peers, you will help to devise, lead and/or facilitate training and education of staff and key internal and external stakeholders; identify opportunities for and contribute to the delivery of improvements of laboratory processes and procedures; and help identify and realise VCGS relevant research and business opportunities to ensure the organisations continued leadership in genetics and genomics.

A key aspect of the role is close engagement with internal and external stakeholders to develop and maintain strong relationships. To be successful in this position, you will be a team player and collaborator who thrives in a culture of innovation and rapid introduction of new developments into service.

The position may also involve performing job-related tasks other than those specifically stated in this description. This may include overtime work outside of usual business hours and on the weekends.

Your responsibilities include but are not limited to:

  • Ensuring technical and procedural relevance, excellence and compliance of the Clinical Genomics Services.
  • Driving continuous improvement of all technical, procedural and operational aspects of the Clinical Genomics Service.
  • Contributing to routine service delivery tasks including variant and gene analysis, interpretation, and reporting as directed.
  • Keeping abreast of national and international innovations in Clinical Genomic data generation, analysis and interpretation.
  • Aiding the senior clinical scientist in ensuring complete compliance with relevant standards and guidelines.
  • Ensuring continued competency of the technical and scientific workforce in relevant areas.
  • Facilitating a positive and supportive team and workplace environment and ensure effective communication with staff and managers.

Selection Criteria


  • FHGSA, FFSc(RCPA), FRCPath (UK), ABMGG accredited laboratory director (US), or equivalent.
  • Minimum of 5 years’ experience in clinical genomics.
  • Demonstrable outstanding level of expertise in germline genomic variant prioritisation and curation.
  • Demonstrable outstanding level of expertise in MPS/NGS quality control and trouble shooting.
  • Demonstrable high level of expertise in assessment and evaluation of gene/disease and gene/phenotype associations.
  • Demonstrable high level of understanding of the molecular basis of human disease and the underlying mechanisms.
  • Proven ability to work as a team member with effective communication and interpersonal skills and adaptability to work within a multidisciplinary, multi-skilled team environment.
  • Ability to foster good working relationships with a wide range of medical and clinical scientists, internal and external clinicians, and other stakeholders.
  • Demonstrated personal qualities including effective communication skills, motivation, initiative, time management and commitment to professional development.
  • Ability to work harmoniously and constructively in complex team environments to achieve shared goals.
  • Ongoing commitment to personal improvement and professional development.
  • Proven ability to lead effective teams and manage complex stakeholder relationships.


  • PhD (or equivalent higher degree) and demonstrated engagement in genomic research.
  • Demonstrated ability to critically assess, evaluate and implement new equipment, instruments, products or
  • procedures relevant to the diagnostic work of the laboratory.
  • Demonstrable high level of understanding of clinical bioinformatics tools and pipelines.
  • Familiarity with Australian NATA and NPAAC regulatory frameworks.
  • Experience in operational management of a clinical genomics laboratory.
  • Demonstrated expertise in quality assurance and continuous process improvement.
  • Expertise in cytogenetic and cytogenomic data analysis and disease mechanisms.
  • Experience in effective delivery of training to individuals and groups.

What’s in it for you:

  • 2 Year Contract (Possible Extension).
  • Attractive Salary $117,826.80 - $136,344.00 per annum + Super (with Salary Packaging).
  • Full Time.
  • Flexible Working Options.
  • Ongoing Career Development and Training.
  • Paid Parental Leave Scheme.
  • Health and Wellbeing Program and an Employee Assistance Program.

Apply Now!

Download the position description.

Any specific questions not answered in the position description should be directed to A/Prof. Sebastian Lunke sebastian.lunke@vcgs.org.au using the subject line: Scientist - Clinical Genomics Service Specialist enquiry via EthicalJobs.

If you believe you have what we're after please click 'Apply Now' to proceed with your application. In one document only please place your:

  • Cover Letter
  • Response to Key Selection Criteria
  • Resume

If you experience technical difficulties when submitting your application, please contact recruitment@mcri.edu.au using the subject line: Scientist - Clinical Genomics Service Specialist enquiry via EthicalJobs and quoting Position Reference.

On occasions where we receive a large number of applications, we may close the advert ahead of the publicised closing date. We would therefore advise that you submit your completed application as soon as possible.

All applicants please be aware that in line with the Victorian Chief Health Officer’s Directions, all MCRI and VCGS workers must be fully vaccinated, unless a medical exception applies. Applicants will be required to provide their Australian Government COVID-19 Digital Immunisation Certificate/s or evidence of medical exception or evidence of vaccination booking as part of our pre-employment requirements.

We encourage applications from Aboriginal and Torres Strait Islander people, all members of the LGBTQI community and people with disability.

Should you require any specific support or adjustments please talk to us and we will be happy to accommodate.

All appointments are made subject to a satisfactory Police Check and a Working with Children check is compulsory.

Please note, applications will only be considered when submitted via the application page on the MCRI website, which can be accessed by clicking Apply Now.

Thank you for your interest in this role. We look forward to receiving your application.

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