Journal article
Medically actionable pathogenic variants in a population of 13,131 healthy elderly individuals
P Lacaze, R Sebra, M Riaz, J Tiller, J Revote, J Phung, EJ Parker, SG Orchard, JE Lockery, R Wolfe, M Strahl, YC Wang, R Chen, D Sisco, T Arnold, BA Thompson, DD Buchanan, FA Macrae, PA James, WP Abhayaratna Show all
Genetics in Medicine | ELSEVIER SCIENCE INC | Published : 2020
Abstract
Purpose: To measure the prevalence of medically actionable pathogenic variants (PVs) among a population of healthy elderly individuals. Methods: We used targeted sequencing to detect pathogenic or likely pathogenic variants in 55 genes associated with autosomal dominant medically actionable conditions, among a population of 13,131 individuals aged 70 or older (mean age 75 years) enrolled in the ASPirin in Reducing Events in the Elderly (ASPREE) trial. Participants had no previous diagnosis or current symptoms of cardiovascular disease, physical disability or dementia, and no current diagnosis of life-threatening cancer. Variant curation followed American College of Medical Genetics and Genom..
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Awarded by National Institutes of Health
Funding Acknowledgements
Supported by a Flagship cluster grant (including the Commonwealth Scientific and Industrial Research Organisation, Monash University, Menzies Research Institute, Australian National University, University of Melbourne), grants U01AG029824 from the National Institute on Aging and the National Cancer Institute at the National Institutes of Health, by grants 334047 and 1127060 from the National Health and Medical Research Council of Australia, and by Monash University and the Victorian Cancer Agency. We thank the trial staff in Australia and the United States, the participants who volunteered for this trial, and the general practitioners and staff of the medical clinics who cared for the participants.