ClinGen--the Clinical Genome Resource
Autor: | Rehm, Heidi L, Berg, Jonathan S, Brooks, Lisa D, Bustamante, Carlos D, Evans, James P, Landrum, Melissa J, Ledbetter, David H, Maglott, Donna R, Martin, Christa Lese, Nussbaum, Robert L, Plon, Sharon E, Ramos, Erin M, Sherry, Stephen T, Watson, Michael S, ClinGen |
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Rok vydání: | 2015 |
Předmět: |
ClinGen
Genome National Library of Medicine (U.S.) Prevention Genetic Variation Cardiovascular Medical and Health Sciences United States Databases Inborn Heart Disease Genetic Genetic Diseases General & Internal Medicine Genetics Humans 2.1 Biological and endogenous factors Genetic Predisposition to Disease Genetic Testing Aetiology Human |
Zdroj: | The New England journal of medicine, vol 372, iss 23 |
Popis: | On autopsy, a patient is found to have hypertrophic cardiomyopathy. The patient’s family pursues genetic testing that shows a “likely pathogenic” variant for the condition on the basis of a study in an original research publication. Given the dominant inheritance of the condition and the risk of sudden cardiac death, other family members are tested for the genetic variant to determine their risk. Several family members test negative and are told that they are not at risk for hypertrophic cardiomyopathy and sudden cardiac death, and those who test positive are told that they need to be regularly monitored for cardiomyopathy on echocardiography. Five years later, during a routine clinic visit of one of the genotype-positive family members, the cardiologist queries a database for current knowledge on the genetic variant and discovers that the variant is now interpreted as “likely benign” by another laboratory that uses more recently derived population-frequency data. A newly available testing panel for additional genes that are implicated in hypertrophic cardiomyopathy is initiated on an affected family member, and a different variant is found that is determined to be pathogenic. Family members are retested, and one member who previously tested negative is now found to be positive for this new variant. An immediate clinical workup detects evidence of cardiomyopathy, and an intracardiac defibrillator is implanted to reduce the risk of sudden cardiac death. |
Databáze: | OpenAIRE |
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