Bioinformatics from patient recruitment, disease modeling to preventive healthcare

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The Commonwealth Science and Industrial Research Organisation (CSIRO) has advanced Australia with a range of inventions and innovations that have had a significant positive impact on the lives of people around the world. Among the various units in CSIRO, the Health and Biosecurity business unit is committed to advancing public health and protecting biosecurity by improving the safety, quality and efficiency of health services for all Australians through implementing technology in clinical partnerships to create a better health system.

One of the Health and Biosecurity business units is The Transformational Bioinformatics team, which is interested in developing novel bioinformatics solutions for research and industry using the latest in cloud and BigData infrastructure. The team specifically focuses on population-scale ‘omics (genomics, transcriptomics, methylomics) data analysis with advanced machine learning approaches. One of its most notable success is the development of VariantSpark, a Hadoop/Spark based machine learning framework, for analyzing large-scale genomic sequencing datasets in real-time, e.g. for biomarker discovery or patient stratification.

At Phar-East 2018, we are delighted that Oscar Luo, a senior research scientist in CSIRO will share more their team’s work using big data & AI in digital rare disease patient recruitment, an exciting concept aligned with the digitalisation of pharma clinical trials and operations. Prior to the conference, we asked Oscar and his team leader, Denis Bauer to share with us some thoughts to give you a quick preview of what to expect at the conference.


Q: What’s your vision of the future of biodata in the next 10 years? How does it help pharma companies in R&D?

A: Genomic sequencing is becoming prevalent in healthcare practice as the cost of DNA sequencing continues to decline. It is predicted by 2025, 50% of the world population will have their genome sequenced, creating more data than astronomy, Twitter and Youtube combined. By combining large cohort genome sequencing data with patients’ phenotypic data extracted from standardized digital health record, comprehensive genomic-phenomic knowledge bases can be established. Such knowledge base will be of enormous value for pharma companies in designing precision medicine for tailored drug treatments for patients with distinct genetic backgrounds.


Q: We often hear about how biodata helps in disease modelling and drug discovery process, but how does it facilitate patient recruitment process?

A: Drugs do not work for everyone equally or – in the worst case – can even lead to adverse drug reactions in some individuals. Genomic profiles can be used to provide personalized risk assessment for known drug reactions. Hence recruiting patient stratified by their genomic profiles helps reduce negative outcomes that are known and preventable. Furthermore, genomes can also advise on a person’s drug metabolism and hence inform dosage in a more personalized fashion compared to current practices using physical measurements. We believe that modern recruitment processes need to take these options into account and adjust the hypothesis testing in the clinical trial accordingly.

Q: There are talks about the Internet of things (IoT) being the next big thing after the smart phone era. In your opinion, how does it help, or impact biodata and researchers in the field?

A: Genomic data of patients are relatively stable and static biodata. However, human health and diseases are gradual phenotypic changes resulted by constant interaction between environmental factors and individual’s genetic background. Internet of things (IoT) such as wearable smart devices and connected smart home sensors would create new means of capturing health relevant phenotypic and environmental data in a constant and contiguous manner. The integration of these phenotypic and environmental data with patient genome data will become invaluable resources for researchers to understand complex diseases. Initial trials are already underway within the eHealth research program in CSIRO.


Q: Who/what company would you like to meet at Phar-East 2018?

A: Bio-IT, JTC, EAG, HMT, McCloud Consulting, GCT, Merck and more.


Phar-East 2018’s full program will bring you over 120 speakers! Find out more from our website:


About Phar-East 2018
From humble beginnings as BioMedical Asia in 2008, BioPharma Asia has attracted close to 20,000 attendees over the last 10 years. Established as a true one-stop shop for all things biopharma, our 2018 program is rebranded into Phar East 2018 to explore innovation in clinical trials, manufacturing, supply chain, market access, partnering, pricing, and more without restricting itself on the type and nature of therapeutic products. Visit our website for more information:

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