Oral Presentation 39th Annual Lorne Genome Conference 2018

Genome sequencing of 15,000 healthy elderly Australians (#22)

Paul Lacaze 1 , Moeen Riaz 1 , ASPREE Investigator Group , ASPREE Healthy Ageing Biobank , Robyn Woods 1 , John McNeil 1
  1. Monash University, Melbourne, VIC, Australia

The ASPREE Healthy Ageing Biobank contains ~15,000 consented samples from Australians aged 70 years or older participating in the ASPirin in Reducing Events in the Elderly (ASPREE) study - Australia’s largest clinical trial and longitudinal study of healthy ageing [1]. At enrolment, all ASPREE participants were confirmed to be free of major life-threatening cardiovascular disease, cancer or cognitive decline, meaning samples were ascertained from confirmed healthy elderly individuals depleted of typical monogenetic disease phenotypes [2]. All ASPREE biobank samples are sequenced using a targeted ‘super-panel’ of 750 genes used commonly in clinical testing, which includes all ACMG59 clinically actionable genes plus pan-cancer, cardiovascular and neurological gene coverage. Over 9,000 samples have been sequenced so far (Oct 2017), already identifying hundreds of actionable pathogenic variants in individuals lacking any apparent signs and symptoms of genetic disease beyond 70 years [3]. Results will be presented on these findings, with implications for our understanding of penetrance and clinical actionability for genes used in routine testing [4]. Through collaboration, these results will help inform the Resilience Project, a global effort to identify individuals with highly penetrant pathogenic variants who do not appear to develop typical signs and symptoms of disease well beyond the expected age of onset [5, 6]. In addition, ASPREE has conducted whole genome sequencing on 2000 of the oldest, cancer-free Australian participants as part of the Medical Genome Reference Bank (MGRB) project. This presentation will give an overview of the ASPREE trial, depth and breadth of longitudinal phenotype data and fiindgs from genomic research.