New genome sequencing quality improvement pilot beginning October 1, and update to ACMG Secondary Findings v3.2

The CHEO Genetics Diagnostic Laboratory (GDL) and SickKids Genome Diagnostics Laboratory (GDL) teams wanted to reach out to share two updates on genome-wide sequencing (GWS) in Ontario: Genome sequencing quality improvement pilot From April 1, 2021, to March 31, 2023, GWS was performed for 724 trios (proband plus two parents) [...]

September 27, 2023|

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 [...]

March 24, 2023|

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 [...]

December 19, 2022|