“The best tool of its kind in the world”: Patient Archive being used to advance diagnosis of rare diseases in WA

Western Australia’s Undiagnosed Diseases Program (UDP) has acquired Patient Archive clinical phenotyping software from the Garvan Institute of Medical Research.
Media Release: 07 April 2017

Patient Archive is specialised data management software that allows clinicians to securely store, use and share genomic data, patient information and their own notes.

A key challenge of genomic medicine is defining the relationship between an individual’s genotype and phenotype, which is their observable characteristics such as height, blood type and disease symptoms.

Patient Archive helps address this challenge by converting clinicians’ notes into standardised language. This allows them to match individuals who have the same, or related, genetic conditions.

This is especially important for rare diseases, where there may only be a handful of known cases worldwide and every bit of knowledge helps.

“By harmonising phenomic information, Patient Archive enables the accelerated application of genomic technologies to translational research and patient care,” said Dr Tudor Groza, Phenomics Team leader at Garvan’s Kinghorn Centre for Clinical Genomics (KCCG).

Dr Gareth Baynam, director of Western Australia’s UDP, described Patient Archive as the best tool of its kind in the world.

“Studies have shown that by better incorporating what is already described in medical notes with genetic tests you can increase diagnostic rates by as much as 30 per cent. 

“Sometimes the answers are in there but we have limited ability to unlock them; Patient Archive provides a new key,” said Dr Baynam.

The development of Patient Archive was started in 2015 by the Phenomics Team at KCCG.  It was made in collaboration with the Monarch Initiative, Genetic Services of Western Australia, the Western Australian Register of Developmental Anomalies and the Office of Population Health Genomics.

Since then, Patient Archive has gained international interest and is being used by genetic services in the United States and Japan.

"In the future, we will focus on improving the deep phenotype-driven data analytics in the platform to predict disease progression and improve the accuracy of genetic testing. This will lead to better outcomes for patients and their families," said Dr Groza.


Notes to Editors

1. About the Garvan Institute of Medical Research and the Kinghorn Centre for Clinical Genomics

The Garvan Institute of Medical Research is one of Australia's largest medical research institutions and is at the forefront of next-generation genomic sequencing in Australia. Garvan’s main research areas are: cancer, diabetes and metabolism, immunology and inflammation, osteoporosis and bone biology, and neuroscience. Garvan’s mission is to make significant contributions to medical science that will change the directions of science and medicine and have major impacts on human health.

 In 2012, Garvan established the Kinghorn Centre for Clinical Genomics (KCCG), Australia’s first purpose-built facility for undertaking clinical-grade genome sequencing and large-scale research projects. KCCG’s researchers undertake collaborative projects and genome-based studies to improve genome interpretation, with the aim of advancing the use of genomic information in patient care.

2. About the Undiagnosed Diseases Program of Western Australia

Western Australia’s Undiagnosed Diseases Program (UDP) is a clinical program established by the WA Department of Health that is dedicated to finding answers for children with baffling, undiagnosed medical conditions. It does this by selecting one patient a month and focussing all of its efforts and resources on finding a diagnosis for that patient.

Central to the program is an expert panel, made up of doctors from different medical specialties, that reviews the patient’s medical history in an effort to identify potential new avenues of investigation for achieving a diagnosis.

Investigations or consultations recommended by the panel are then arranged for the patient who is admitted to the State’s children’s hospital for up to three consecutive days. The UDP also shares de-identified information about the patient with members of an international network of undiagnosed diseases programs, to which the WA program belongs.

Even when a diagnosis is not found, the UDP seeks to provide families with enhanced understanding and management of their child’s condition.

Western Australia’s UDP is currently focused on paediatric cases.


3.  What is a genome?

Our genome is the complete set of genetic information we inherit from our parents, encoded within 2 metres of DNA packed tightly into each of our cells as chromosomes. A human genome is approximately 6 billion base pairs, or letters of DNA code.


4. What is genomics?

Genomics is the study of the structure and function of the genome of an organism.


5. What is a phenotype?

Our phenotype is our observable or measurable characteristics, such as our height and blood type. A person’s phenotype results from the interaction of genes and the environment.


6. What is phenomics?

Phenomics is the study of phenotypes, or the ways our genetic material is expressed. 

In the future, it is anticipated that population scale integration of genomic and phenomic data will reveal an unprecedented understanding of relationships between the human genome and disease.



Media enquiries:  Krista Recsei (KCCG) – k.recsei@garvan.org.au – 0425 376 332



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