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 [...]
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 [...]
