Genomics at Garvan and Genome.One highlighted on ABC

This week’s episode of ‘Ask the Doctor’ – which explored the role of genomics in medicine – focused on the work of Garvan and its wholly owned subsidiary Genome.One.

Alan meets 'his' mouse, which has a genetic makeup that echoes Alan's own disorder

07 July 2017

Ask the Doctor is a new factual series on ABC TV. It aims to address the state of Australia’s health, the latest in medical treatments and ‘the future of healthcare as we know it’. Episodes so far have focused on exercise, pain, sleep, obesity and the effect of alcohol and other topics, with episode 8 (‘Genes’) being largely devoted to the impact of genomics on healthcare and medicine. 

The episode told the story of young Alan – the boy whose life-threatening immune disorder has been held at bay through the power of genomic information generated and analysed at Garvan.

Presenter Renee Lim described how genome sequencing led to a diagnosis for Alan – and to a change in treatment that has transformed his health. Renee was with Alan and his family when they first met ‘Alan’s mouse’ – the ‘furry doppelganger’ whose genetic makeup echoes Alan’s own disorder, and who is shedding light on the underlying immune mechanisms that made Alan so unwell. 

In addition, presenter Shalin Naik chose to have his own genome sequenced and analysed with the help of Genome.One. Shalin enrolled in a Genome.One pilot study focusing on whole genome sequencing for healthy individuals. He spoke with Associate Professor Marcel Dinger (who leads Genome.One) and with Mary-Anne Young (genetic counsellor and head of clinical services, Genome.One) as he grappled with the science of genome sequencing and the personal and ethical implications of genomic information.

Shalin concluded that his own experience with genome sequencing was ‘remarkable’, but recognised that genome sequencing requires informed decision-making and might not be for everyone.  Thank you, Shalin, for a balanced and thoughtful investigation of the potential of, and the issues surrounding, genomics and healthcare.

Watch the Ask the Doctor episode.

Learn more about Alan and his story.

Find out more about Genome.One’s recent announcements about whole genome and health assessments for those interested in knowing more about their health now and in the future.