Download the updated PDF here [2023]

Genomic test results

This resource is intended to facilitate discussion between clinicians and patients about possible results of genomic testing. This not specific to any one genomic test and may be applied to various technologies, such as whole genome sequencing or a multigene panel.

This point of care tool aims to summarize possible genomic test results (pathogenic/likely pathogenic, variant of uncertain significance (VUS), benign/likely benign), ordering clinician’s role, additional considerations with genomic testing. It can be used in pre- or post- test counselling. Further details on genomic test results can be found in the GECKO on the run.

References

[1] Donohue KE, Gooch C, Katz A, et al. Pitfalls and challenges in genetic test interpretation: An exploration of genetic professionals experience with interpretation of results. Clin Genet. 2021; 99(5):638-649. PMID: 33818754

[2] Richards S, Aziz N, Bale S, et al; ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405-24; PMID: 25741868

[3] Hathaway J, Heliö K, Saarinen I, et al. Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients. BMC Cardiovasc Disord. 2021;21(1):126; PMID: 33673806

[4] Miller DT, Lee K, Chung WK, et al; ACMG Secondary Findings Working Group. ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021;23(8):1381-1390. Erratum in: Genet Med. 2021 Aug 3; PMID: 3401206

[5] Cowan JS, Kagedan BL, Graham GE, et al. Health care implications of the Genetic Non-Discrimination Act: Protection for Canadians' genetic information. Can Fam Physician. 2022;68(9):643-646. PMID: 36100377

Resources

1. A one-page patient companion resource on genomic testing developed by Hannah Faghfoury, MD, FRCPC, FCCMG, geneticist at Mount Sinai Hospital and University Health Network https://drive.google.com/file/d/1VevrpgTGMtWNqOeyVJHkvlQPhvHFp-lh/view [Accessed Feb 2023]
2. Validated decision aid for individuals considering receipt of secondary findings following comprehensive genomic testing. Genomic ADvISOR https://research.unityhealth.to/labs/yvonne-bombard/genomics-adviser/ [Accessed Feb 2023]
3. A guide to genomic test results for non-genetics providers. Created by the Practitioner Education Working Group of the Clinical Sequencing Exploratory Research (CSER) Consortiumgenome.gov https://www.genome.gov/sites/default/files/media/files/2020-04/Guide_to_Interpreting_Genomic_Reports_Toolkit.pdf [Accessed Feb 2023]
4. Canadian Association of Genetic Counsellors (CAGC) Genetic Non-discrimination Act summary for clinicians https://www.cagc-accg.ca/doc/S201%20fact%20sheet%20-%20final%20copy%20-%20May%2017%202017.pdf [Accessed Feb 2023]
5. General genomics education at National Human Genome Research Institute https://www.genome.gov/About-Genomics/Introduction-to-Genomics [Accessed Feb 2023]