ClinGen is funded by the National Human Genome Research Institute (NHGRI), which is itself part of the National Institutes of Health. Erin Ramos, PhD, a project scientist for ClinGen and program director for the division of genomic medicine at NHGRI, said in a release that NHGRI developed ClinGen as a way to standardize guidelines for genetic testing. A panel of experts, including researchers, clinicians and genetic counselors comb through scientific evidence from research papers to identify gene-disease relationships as either definitive, strong, moderate, limited, disputed or refuted.

The experts reported that three genesKCNQ1, KCNH2 and SCN5Awere indeed backed by enough evidence to be categorized as definitive genetic triggers for long QT syndrome. They classified four other genes as either strong or definitive for causing atypical forms of long QT syndrome, but the panel didnt find enough evidence to support the remaining 10 genes.

Those 10 genes were all placed in either the limited or disputed category for their link to long QT syndrome, and for that reason the authors said they dont recommend using them as markers in routine clinical tests.

Our study highlights the need to take a step back and to critically evaluate the level of evidence for all reported gene-disease associations, especially when applying genetic testing for diagnostic purposes in our patients, Gollob said in a statement. Testing genes with insufficient evidence to support disease causation only creates a risk of inappropriately interpreting the genetic information and leading to patient harm.

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Experts dispute 9 of 17 genes once linked to long QT syndrome - Cardiovascular Business

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