Session 1: Discover 11:15 11:25 Marcel Dinger CEO Genome.One - - PowerPoint PPT Presentation

Session 1: Discover

11:15 – 11:25 Marcel Dinger CEO Genome.One

Genomics in the clinic:

Transforming healthcare and medical research

Marcel Dinger Chief Executive Officer, Genome.One Head, Kinghorn Centre for Clinical Genomics Garvan Institute for Medical Research, Sydney, Conjoint Associate Professor, UNSW Australia Precision Medicine Workshop HIC 2017, Brisbane 7 August 2017

RAPID EVOLUTION OF GENOMICS TECHNOLOGY

NOT “JUST ANOTHER TEST”

Whole genome sequencing

• Replaces 1000s of existing genetic tests
• Permits hypothesis-free diagnosis
• Capacity to re-analyse data
• High research value of data
• Applications outside of medical system

GENOMICS IN WHOLE OF LIFE HEALTHCARE

Molecular autopsy Carrier screening Pre-implantation screening Newborn screening Rare disease diagnosis Disease predisposition Infectious disease diagnosis Cancer diagnosis Pharmacogenomics Cancer treatment guidance Fetus (NIPT) Paediatric disease diagnosis

TWO-WAY FLOW OF INFORMATION

GENOMIC MEDICINE: WHAT ARE THE OPPORTUNITIES?

• 1. Genetic disease. Diagnosis of rare and inherited disorders.
• 2. Cancer. Molecular stratification to guide treatment (precision oncology).
• 3. Disease prevention and treatment personalisation. Predisposition

testing, carrier testing, optimisation and avoidance of adverse drug reaction.

PRECISION MEDICINE REQUIRES CLOSE INTEGRATION BETWEEN MEDICAL RESEARCH AND CLINICAL CARE

PRECISION MEDICINE REQUIRES CLOSE INTEGRATION BETWEEN MEDICAL RESEARCH AND CLINICAL CARE

BENCH TO BEDSIDE AND BACK AGAIN

• Alan has a life-threatening immune

disorder

• diagnosis through trio whole genome

sequencing

• research consortium accessed

recently-published evidence of drug efficacy

• Abatacept (immune inhibitor)

prescribed

• Alan’s red blood cells and platelets

rebounded into normal range and he is now less vulnerable to infection

• Issues remain with his gut, but the

diagnosis and drug treatment have been life-changing for Alan and his family

Alan’s illness has been held at bay through the power of genomic information

BENCH TO BEDSIDE AND BACK AGAIN

• with knowledge of the genetic variants

in the LRBA gene, mice ‘avatars’ of Alan have been made

• Research continues into his disorder

through the Clinical Immunogenomics Research Consortium Australia (CIRCA) at Garvan

With genomic information, Garvan researchers are trying to turn Alan's partial fix into a complete one.

ESTABLISHING A LEARNING HEALTHCARE SYSTEM

• 2. Standardised clinical data
• 3. Analytics to infer new genetic associations

with clinical characteristics

• 1. Standardised, dynamic, portable consent
• 4. Machine learning algorithms to optimise

clinical decision-making based on population- health data

• 5. Consumer awareness to maximise

effectiveness Using population health analytics to inform precision healthcare requires:

EMERGING ISSUES IN HEALTH INFORMATICS IN REALISING PRECISION MEDICINE

• 2. Precision medicine relies on deep linkages between

research and clinical systems. How will these entrenched barriers be removed?

• 3. Genomics data is large and is most valuable when shared

across networks. How and where should data be stored?

• 1. Clinical decision support systems are a key component

in precision medicine. What is our readiness for this transition where medical guidance is shifted from pathology to the clinician’s desktop?