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Distinguishing Among Cardiac Genomic Variants

Circ Genom Precis Med; 2018 Jun; Hellwig, et al

Patients are better able to distinguish pathogenicity subclassifications when presented with multiple categories, and individuals who receive a single uncertain result in a CVD gene may benefit from interventions to decrease worry. Researchers tested whether participants perceived differences in genetic variant subclassifications on outcomes, including risk comprehension, risk perception, worry, perceived uncertainly, and intentions. Order-randomized hypothetical CV genetic results were given to 289 participants enrolled in a genome sequencing study. 3 categories of variants were presented: variants of uncertain significance, possibly pathogenic, and likely pathogenic. Among the findings:

  • When presented with all 3 results, participants distinguished among the subclassifications on all outcomes.
  • When presented only a possibly pathogenic result, participants’ risk perceptions were similar to those of variants of uncertain significance, but they were more worried and intended to behave as if they had received a likely pathogenic result.
  • Participants depended more on the affective responses such as worry when they received only 1 result.


Hellwig LD, Biesecker BB, Lewis KL, Biesecker LG, James CA, Klein WMP. Ability of patients to distinguish among cardiac genomic variant subclassifications. Circ Genom Precis Med. 2018;11(6):e001975. doi:10.1161/CIRCGEN.117.001975.

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