Key result
Expanded (panCMP) panel testing yielded fewer pathogenic variants (15% vs 32%, P=0.03) and more variants of unknown significance (87% vs 30%, P<0.0001) compared to targeted panel testing.
Why the study?
Does expanded (panCMP) genetic panel testing improve the diagnostic yield of pathogenic variants compared to targeted panel testing in pediatric patients with cardiomyopathy?
Observational (n=151)
No
Does expanded (panCMP) genetic panel testing improve the diagnostic yield of pathogenic variants compared to targeted panel testing in pediatric patients with cardiomyopathy?
Absolute Event Rate: 15% vs 32%
p-value: p=.03
Expanded pan-cardiomyopathy genetic panels do not increase diagnostic yield over targeted panels in pediatric patients, but significantly increase the detection of variants of unknown significance.
No takes yet. Share an insight, caveat, or question.
Targeted panels may be preferred in pediatric cardiomyopathy to limit VUS; leaves open optimal testing strategies.
Ouellette et al. (2017) conducted an observational in Pediatric cardiomyopathy (n=151). Expanded (panCMP) panel testing vs. Targeted panel testing was evaluated on Yield of pathogenic variants (p=.03). Expanded (panCMP) panel testing yielded fewer pathogenic variants (15% vs 32%, P=0.03) and more variants of unknown significance (87% vs 30%, P<0.0001) compared to targeted panel testing.
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