BiG Talks – Bioinformatics and Genomics Seminar Series
Genome sequencing of 15,000 healthy elderly Australians: implications for clinical genetics
Dr. Paul Lacaze, Head of the Public Health Genomics Program, Monash University, Melbourne Australia
The ASPREE Healthy Ageing Biobank contains ~15,000 consented samples from individuals 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. 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. All ASPREE biobank samples are being sequenced using a targeted ‘super-panel’ of 750 genes used commonly in clinical testing, including all ACMG59 genes plus pan-cancer, cardiovascular and neurological gene coverage. Over 11,500 samples have been sequenced (May 2018), identifying hundreds of actionable pathogenic variants in individuals lacking any apparent signs and symptoms of genetic disease beyond 70 years. Results will be presented on these findings, with implications for our understanding of penetrance and clinical actionability for genes used in routine testing. In addition, ASPREE has conducted whole genome sequencing on 3000 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 primary ASPREE trial, depth and breadth of longitudinal phenotype data, and programs of genomic research.
Paul Lacaze is the inaugural Head of the Public Health Genomics Program at Monash University School of Public Health and Preventive Medicine. He specializes in large-scale genetic analyses of cohort studies, biobanks, clinical trials and clinical registries. He leads the genomic analyses of the ASPREE Biobank and has research interest in the identification of rare cases of non-penetrance or ‘resilience’ against known pathogenic variants in the healthy elderly. Dr. Lacaze also conducts research into the ethical, legal and social implications of genomic information in society. He has a PhD from the University of Edinburgh and experience in the commercial and academic life-science sectors.
Host: Adam Ameur, NGI Uppsala (firstname.lastname@example.org)
BiG Talks – Bioinformatics and Genomics seminar series arranged in collaboration with SciLifeLab platforms NBIS, NGI and CG
Date: June 11, 10.30-11.30 in Trippelrummet, Navet, SciLifeLab Uppsala and online
Broadcast link (live event): SciLifeLab YouTube channel
Registration for lunch sandwich: Google Form (Deadline 6th of June).