Provincial Update: Exome Sequencing for Rare Disease Diagnostics
On behalf of the Provincial Genetics Program, Ontario Health: Following the successful completion of Genome-wide Sequencing Ontario’s (GSO) pilot implementation project on March 31, 2023, we are pleased to confirm that from April 1, 2023, exome sequencing (ES) for rare disease diagnostics in children and adults will continue to be [...]
ACMG Secondary Findings v3.1
ACMG Secondary Findings v3.1 As of January 1, 2023, we will be adopting the updated list of genes for secondary findings, as recommended by the American College of Medical Genetics and Genomics (ACMG SF v3.1, Miller et al. 2022, PMID: 35802134). Our updated list of medically actionable in childhood secondary [...]
GSO marks one-year anniversary
On April 1, 2022, The Hospital for Sick Children (SickKids) and CHEO marked the completion of the first year of a two-year mandate of Genome-wide Sequencing Ontario: a pilot implementation for rare disease diagnostics (GSO). You can learn more about GSO’s progress through its first year and its impact on [...]