TY - JOUR
T1 - The achilles heel of cardiovascular genetic testing
T2 - Distinguishing pathogenic mutations from background genetic noise
AU - Landstrom, A. P.
AU - Ackerman, M. J.
PY - 2011/10
Y1 - 2011/10
N2 - Although the etiologies of sudden cardiac death (SCD) are diverse, genetic mutations associated with cardiomyopathic and channelopathic diseases are major causes, and clinically available genetic tests offer the potential to identify at-risk family members, contribute to risk stratification, and guide therapeutic intervention. Recently, the first large-scale systematic studies exploring the background genetic noise rate of these tests have been conducted and offer guidance in interpreting positive genetic test results.
AB - Although the etiologies of sudden cardiac death (SCD) are diverse, genetic mutations associated with cardiomyopathic and channelopathic diseases are major causes, and clinically available genetic tests offer the potential to identify at-risk family members, contribute to risk stratification, and guide therapeutic intervention. Recently, the first large-scale systematic studies exploring the background genetic noise rate of these tests have been conducted and offer guidance in interpreting positive genetic test results.
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U2 - 10.1038/clpt.2011.192
DO - 10.1038/clpt.2011.192
M3 - Review article
C2 - 21934721
AN - SCOPUS:80052989000
SN - 0009-9236
VL - 90
SP - 496
EP - 499
JO - Clinical pharmacology and therapeutics
JF - Clinical pharmacology and therapeutics
IS - 4
ER -