Medical Scientist Grade 2/3 (Bioinformatician) - Diagnostic Genomics

Monash Health exists to reimagine care, so that people can live their best lives. 

We provide safe and equitable care, for every stage of life, delivered with world-leading expertise and over 175 years of experience. 

As a leading academic health service, we're committed to providing tomorrow's care today by integrating research, teaching and training into everyday practice. 

Our team of 24,000 people are full hearted, open minded and all in. Together, we provide more than 250 integrated services for every stage of life at over 50 locations and in the community across south-east Melbourne, Victoria, serving 1.2 million residents in the South Metro Local Health Service Network.

Are you currently part of the team at Monash Health? Use your network login to access the Monash Health Careers portal and discover all the job opportunities open to you, to support growing your career within the organisation.

Help shape the future of healthcare at Monash Health and embark on a rewarding career where your dedication makes a difference in people’s lives.   

About the Monash Health Pathology Service  

The Monash Health Pathology Service operates under the brand name Monash Pathology and is an integral part of Monash. It is the largest provider of Pathology services in the State of Victoria and currently operates 6 laboratories. The largest of these is located at the Monash Medical Centre, Clayton, with additional facilities being located at the Dandenong, Moorabbin, Casey, Victorian Heart Hospital and Wonthaggi Hospitals. There are currently 18 collection centres based within the hospital sites and community settings. Services are provided to the Public and Private sectors, and other laboratory services.    

The Victorian Government is reforming Public Pathology services and creating pathology networks. As such from mid-February 2027 Monash Health Pathology will become part of the Bayside Health pathology network and Monash Health Pathology employees will transfer employment to Bayside Health. While employment will transfer there is no change to the role, location or terms and conditions of employment including recognising length of service, and accrued leave entitlements. Employees will continue to perform their duties from their current work locations, subject to operational requirements. 

As such you will be joining Monash Health at an exciting time as we work in partnership with Alfred Health to be the premier shared public pathology service in Victoria. As a member of the pathology teams you will be helping shape the direction of this partnership.   

About the Role   

Join our team as a Medical Scientist Grade 2 or Grade 3 (Bioinformatician) on a full time basis to work at Monash Health Pathology based at Clayton. This role is contracted 30th June 2027 but funding has been ongoing since 2020.

Rare genetic disorders occur at a rate of 40-82 per 1000 live births worldwide. Identifying a molecular cause of rare diseases is beneficial as it potentially allows for an early diagnosis resulting in facilitating treatment planning and accurate genetic counselling for the patient and other family members. The Victorian Government supports gene sequencing for rare diseases and undiagnosed conditions in children and adults with rare diseases funding allocated to the Shared Pathology Service. Given that 80% of rare diseases have a genetic basis, this is an important initiative supporting Victorian patients with gene sequencing as well as the training and development of a specialised pathology medical scientist workforce. In this role, you will be guided under the leadership of the Principal Scientist, Lead Technical Scientists, Senior Scientists, Pathologists and working with the broader Diagnostic Genomics Laboratory team.  

The Diagnostic Genomics Laboratory, Monash Pathology is made up of three different areas which operates a Monday to Friday service 8am to 5pm:   

• The Cytogenetics laboratory which processes a range of prenatal and postnatal specimens, using conventional and molecular diagnostic techniques. This includes DNA extraction, tissue culture, FISH, Microarray and Karyotyping. This lab also offers investigations using  WES for monogenic disorders 

• The Genetics and Molecular Pathology laboratory which provides a specialised genetic testing service for oncology, haematology as well as inherited diseases. Our genomics team currently offers DNA and RNA next generation sequencing (NGS) for targeted panels in solid tumour biology, haematology, cancer predisposition disorders and cardiac.  

• The Thalassemia and Haemophilia Molecular laboratory’s role is to confirm the genetic basis for thalassaemia and other significant haemoglobinopathies, identify carrier status and perform prenatal testing for couples at risk of giving birth to children with severe disease. This laboratory also performs proband and carrier testing for Haemophilia A and Haemophilia B as well as prenatal testing.    

The successful candidate will predominately:  

• Assist the Diagnostic Genomics Laboratory by effectively controlling and managing the issues, risks, dependencies and changes in scope associated with large clinical genomics projects. 

• Work on pipeline development, implementation, testing, and procedure documentation, to enable NATA accreditation for targeted and exomic sequencing approaches.  

• Undertake experimental design, executing, analysing and interpreting and presenting experimental data by drawing on specialist expertise and applying it in challenging and innovative ways. This specifically includes bioinformatics analyses of a wide variety of genomic data sets. 

• Undertake variant curation and analysis 

About You  

To be successful in this healthcare role, it will be desirable if you will bring the following demonstrated skills, experience, and attributes:  

• Excellent written and verbal communication skills, with the ability and willingness to show initiative and application to the task at hand  

• A team player capable of interacting with a range of health professionals including oncologists, haematologists, pathologists, genetic counsellors, pathology laboratory and administrative staff.   

• Experience working with Next Generation Sequencing (NGS) data including DNA-seq and RNA-seq datasets using techniques such as somatic and germline variant identification. 

• Experience with relevant bioinformatics tools including genome browsers, population specific databases, gene databases, disease databases, in silicon analysis, analysis pipelines and curation tools. 

• Strong programming, statistical and data analysis skills including languages such as BASH scripting in a UNIX environment and statistics based software such as R as well as understanding genomic QC workflows 

• Able to use data visualisation tools such as IGV. 

• Experience in clinical diagnostic variant curation in germline and or somatic diseases. 

Mandatory requirements of the role - qualifications: 

• Degree in Science or Applied Science (MLS) in Computational Biology/Bioinformatics/Genome Analytics and appropriate laboratory experience.   

• Post graduate qualification or studying for a post graduate qualification such as a Masters or PhD is highly desirable  

Why you will love working with us   

Ours is a connected team with strong shared values and an unwavering commitment to excellence. We are a highly skilled, collaborative, and welcoming team where the only limit in your career is you. Upon your appointment, we will provide you with: 

• A supportive and cohesive sub-team, working within a larger consumer relations team.   

• Professional development courses, seminars and mentoring.   

• Opportunities for you to use your experience in the role to inform and drive initiatives within the broader units and programs.   

• Salary packaging.   

• Onsite Gym options and ability to join Fitness Passport - your pass to an extensive choice of fitness facilities.

Our Culture and Values 

At Monash Health, our people are at the heart of everything we do. Our culture is inclusive, supportive and future-focused, underpinned by clear values and a commitment to continuous improvement. 

Our teams play a critical role in bringing our new strategy to life, challenging traditional approaches, embracing innovation, and ensuring every appointment reflects our commitment to equity, transparency and excellence. 

You’ll be encouraged to share ideas, contribute to improvement initiatives, and grow alongside experienced professionals who are passionate about what they do. 

We are Full Hearted, Open Minded and All In, enabling excellent service delivery and a positive candidate and employee experience every time. 

We recognise the value of equal employment opportunity. We are committed to patient safety, promoting fairness, equity and diversity in the workplace and to Child Safe Standards.