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Evolution of a genetic diagnosis
Author(s) -
Laksman Z.,
Dulay D.,
Gollob M.H.,
Skanes A.C.,
Krahn A.D.
Publication year - 2014
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.12320
Subject(s) - genetic diagnosis , phenotype , genotype , genetic testing , probabilistic logic , patient care , genetics , medicine , bioinformatics , biology , computer science , gene , artificial intelligence , nursing
Understanding the relationship between genotype and phenotype has become an integral part of the diagnosis and management of patients with inherited arrhythmias and cardiomyopathies. Given the existence of background noise, the majority of genetic testing results should be incorporated into clinical decision making as probabilistic, rather than deterministic, in the diagnosis and management of inherited arrhythmias. This case report captures multiple snapshots of clinical care in the evolution of a diagnosis of a single patient, highlighting the need for repeated phenotypic and genotypic assessment for both the patient and their family.