DNA sequencing technology has enabled the identification of thousands of genetic variants that appear to play causal roles in the development of both common and uncommon diseases.
The American College of Medical Genetics and Genomics (ACMG) has published a policy statement that emphasizes the need to alert patients of their carrier status for 59 genetic mutations of potentially high medical importance. This panel is known as the ACMG59. Many of these genetic variants are believed to contribute to potentially severe disease. However, knowledge of one’s carrier status could lead to preventive measures and interval surveillance.
The ACMG59 panel typically presents unintended findings — ranging from pathogenic to benign, or somewhere in between. The ACMG mutations are often unrelated to the initial indication for ordering genetic sequencing but are believed to be of high medical value. (1,2,3)
Our software assesses the genes included in the ACMG59 panel. Each patient in our genomics-based preventive program has the option of receiving their results or not.
Seen below is a patient’s partial report on these 59 genes and their mutations. This patient has none of the 59 medically actionable genes identified by the American College of Medical Genetics.
- Green RC, Berg JS, Grody WW, et al. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med. 2013 Jul;15(7):565-74.
- Kalia SS, Adelman K, Bale SJ et al. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. Genet Med. 2017 Feb;19(2):249-255.
- NCBI ClinGen. Curation of the ACMG 59 Genes. Available from https://www.ncbi.nlm.nih.gov/projects/dbvar/clingen/acmg.shtml