PT - JOURNAL ARTICLE AU - Miriam S. Reuter AU - Susan Walker AU - Bhooma Thiruvahindrapuram AU - Joe Whitney AU - Iris Cohn AU - Neal Sondheimer AU - Ryan K.C. Yuen AU - Brett Trost AU - Tara A. Paton AU - Sergio L. Pereira AU - Jo-Anne Herbrick AU - Richard F. Wintle AU - Daniele Merico AU - Jennifer Howe AU - Jeffrey R. MacDonald AU - Chao Lu AU - Thomas Nalpathamkalam AU - Wilson W.L. Sung AU - Zhuozhi Wang AU - Rohan V. Patel AU - Giovanna Pellecchia AU - John Wei AU - Lisa J. Strug AU - Sherilyn Bell AU - Barbara Kellam AU - Melanie M. Mahtani AU - Anne S. Bassett AU - Yvonne Bombard AU - Rosanna Weksberg AU - Cheryl Shuman AU - Ronald D. Cohn AU - Dimitri J. Stavropoulos AU - Sarah Bowdin AU - Matthew R. Hildebrandt AU - Wei Wei AU - Asli Romm AU - Peter Pasceri AU - James Ellis AU - Peter Ray AU - M. Stephen Meyn AU - Nasim Monfared AU - S. Mohsen Hosseini AU - Ann M. Joseph-George AU - Fred W. Keeley AU - Ryan A. Cook AU - Marc Fiume AU - Hin C. Lee AU - Christian R. Marshall AU - Jill Davies AU - Allison Hazell AU - Janet A. Buchanan AU - Michael J. Szego AU - Stephen W. Scherer TI - The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants AID - 10.1503/cmaj.171151 DP - 2018 Feb 05 TA - Canadian Medical Association Journal PG - E126--E136 VI - 190 IP - 5 4099 - http://www.cmaj.ca/content/190/5/E126.short 4100 - http://www.cmaj.ca/content/190/5/E126.full SO - CMAJ2018 Feb 05; 190 AB - BACKGROUND: The Personal Genome Project Canada is a comprehensive public data resource that integrates whole genome sequencing data and health information. We describe genomic variation identified in the initial recruitment cohort of 56 volunteers.METHODS: Volunteers were screened for eligibility and provided informed consent for open data sharing. Using blood DNA, we performed whole genome sequencing and identified all possible classes of DNA variants. A genetic counsellor explained the implication of the results to each participant.RESULTS: Whole genome sequencing of the first 56 participants identified 207 662 805 sequence variants and 27 494 copy number variations. We analyzed a prioritized disease-associated data set (n = 1606 variants) according to standardized guidelines, and interpreted 19 variants in 14 participants (25%) as having obvious health implications. Six of these variants (e.g., in BRCA1 or mosaic loss of an X chromosome) were pathogenic or likely pathogenic. Seven were risk factors for cancer, cardiovascular or neurobehavioural conditions. Four other variants — associated with cancer, cardiac or neurodegenerative phenotypes — remained of uncertain significance because of discrepancies among databases. We also identified a large structural chromosome aberration and a likely pathogenic mitochondrial variant. There were 172 recessive disease alleles (e.g., 5 individuals carried mutations for cystic fibrosis). Pharmacogenomics analyses revealed another 3.9 potentially relevant genotypes per individual.INTERPRETATION: Our analyses identified a spectrum of genetic variants with potential health impact in 25% of participants. When also considering recessive alleles and variants with potential pharmacologic relevance, all 56 participants had medically relevant findings. Although access is mostly limited to research, whole genome sequencing can provide specific and novel information with the potential of major impact for health care.See related article at www.cmaj.ca/lookup/doi/10.1503/cmaj.180076