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 [...]
Randomization
Beginning April 1st, 2022, trio cases (proband + two parents) will be randomized to receive either exome sequencing or whole genome sequencing. Singleton, Duo, Quad, and Trio cases that do not include both parents will continue to receive exome sequencing. The genetic test report will include information on the type [...]