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Links between genes, Brugada syndrome questioned
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After a panel examined the clinical validity of 21 genes believed to be associated with causing Brugada syndrome, it deemed only one to be definitive evidence.
The other 20 genes have been reclassified as disputed evidence, members of the Clinical Domain Expert Panel wrote in Circulation.
“Diagnostic conclusions in patients and family members or the decision to implant cardioverter defibrillators in otherwise healthy individuals on the basis of findings from the genes with disputed associations could lead to undue harm,” panel chair Michael H. Gollub, MD, from Peter Munk Cardiac Centre at Toronto General Hospital, said in a press release.
S. Mohsen Hosseini, MD, PhD, from the Ted Rogers Centre Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, and colleagues wrote that the 21 genes are routinely assessed on genetic testing panels for Brugada syndrome, but there had not been a systemic evaluation of the evidence linking the genes to the condition.
Three curation teams used an evidence-based semiquantitative scoring system of genetic and experimental evidence for gene-disease associations to classify the genes as limited, moderate, strong or definitive evidence for causation of Brugada syndrome. The classifications were reviewed and could be changed by the Clinical Domain Expert Panel.
The biocurators classified only one gene, SCN5A, as definitive evidence, and classified the others as limited evidence, which prompted the panel to reclassify the link between the other 20 genes and causation of Brugada syndrome as disputed, Hosseini and colleagues wrote.
“This work highlights the importance of a systematic approach to gene curation as we move from clinical genetic testing in clinically affected individuals to more broadly offering it to asymptomatic individuals” Christa Lese Martin, PhD, FACMG, from Geisinger Health System, co-chair of the Gene Curation Working Group, said in the release. – by Erik Swain
Disclosures: The authors report no relevant financial disclosures.
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