With broad panels and whole exome or genome sequencing, there is the potential for
secondary findings, which include pathogenic/likely pathogenic variants or variants
of uncertain significance in genes that are unrelated to the primary clinical indication
for the testing. No study examined the frequency and implications of secondary findings
when using a broad panel for inherited cardiomyopathy or arrhythmia syndromes. We
performed a retrospective review of the primary indications for genetic testing, tests
performed, and genetic test results to identify secondary findings in patients seen
in the Inherited Cardiovascular Disease Clinic for a personal or family history of
(possible) inherited cardiomyopathy, inherited arrhythmia syndrome, previous cardiac
arrest, or family history of sudden cardiac death. Of 325 probands and 20 family members
who had genetic testing, with no-cost broad cardiomyopathy and arrhythmia panel, 4
probands (1.2%) and 4 family members (5%) had pathogenic/likely pathogenic variants
in autosomal dominant genes, unrelated to the primary reason for testing. In conclusion,
the prevalence of secondary findings using broad cardiomyopathy and arrhythmia panel
in patients with personal or family history of inherited cardiomyopathy or arrhythmia
was ∼2.2%. Our findings suggest that with appropriate genetic counseling, broad panels
might be considered over disease-specific panels because of the relatively high prevalence
of secondary findings that positively affect patient care and would not have been
identified with more targeted testing.
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Article Info
Publication History
Published online: July 11, 2022
Received in revised form:
May 16,
2022
Received:
March 27,
2022
Identification
Copyright
© 2022 Elsevier Inc. All rights reserved.
