ACMG Actionable Diseases Precision Panel
The American College of Medical Genetics and Genomics (ACMG) Actionable Diseases Gene Panel shows a comprehensive selection of genes by ACMG.
Overview
-
The American College of Medical Genetics and Genomics (ACMG) Actionable Diseases Gene Panel shows a comprehensive selection of genes by ACMG. Mutations in these genes lead to disorders that have been scientifically proven to be actionable, meaning that early intervention improves prognosis, life expectancy, quality of life and overall well-being. Early identification before the onset of manifestations allows the prevention of symptoms thus initiating prompt multidisciplinary treatment. The main goal is to report the known or expected pathogenic variants in these genes while performing exome and genome sequencing, even if those are unrelated to the primary medical reason for testing.
-
The Igenomix ACMG Actionable Disorders Precision Panel can be used to identify those genes and perform a screening, whether the patient shows symptoms or not, to locate mutations and start an early treatment.
Indication
The Igenomix ACMG Actionable Disorders Precision Panel is indicated as a screening and diagnostic test in those cases where there are:
- Family history of cancer or cardiomyopathy
- Multiple relatives on the same side of the family with any form of cancer or cardiomyopathy.
- Asymptomatic patients who wish to check the chance of developing any of the reported diseases.
Clinical Utility
The clinical utility of this panel is:
- The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.
- Early initiation of multidisciplinary treatment including lifestyle modifications, early surveillance from malignancy, regular follow up with a specialist, and medical or surgical care if needed.
- Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.
- Family planning for adequate reproductive decisions, using available assisted reproduction technology.
References
Kalia, S., Adelman, K., Bale, S. 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 19, 249–255 (2017).
Green, R., Berg, J., Grody, W. et al. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med 15, 565–574 (2013)
ACMG Board of Directors. ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. Genet Med 17, 68–69 (2015)
