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 findings genes will consist of 68 genes (excludes BRCA1, BRCA2, MLH1, MSH2, MSH6, PMS2, MUTYH,  PALB2,  HFE, and TTR).
  • All 78 recommended genes will be included in the full list of secondary findings genes

Similar to previous updates to the secondary finding list, the secondary findings gene list version used for each patient (and their family members) will be determined by the date of receipt of the sample and requisition at the SickKids or CHEO laboratories (i.e. if a family is consented prior to January 1st 2023, but their sample arrives at the lab on or after January 1st, the secondary findings analysis undertaken will reflect the updated list.).

For more information on the GSO reporting of secondary findings, please visit our secondary findings page here. If you have concerns about the addition of the new genes for a particular patient’s analysis, we ask that you please contact us to discuss alternative options, at (CHEO) or (SickKids).

Secondary findings Impact study
In addition, the GSO team is continuing work on the Genome-wide Sequencing Ontario (GSO): Secondary Findings Impact Study.  This study aims to understand the clinical utility, personal utility, and incremental cost-effectiveness of secondary findings in the Ontario context. If you have any questions about the study, please reach out to Katie Fooks (