Next-generation sequencing for the diagnosis of cardiac arrhythmia syndromes.

Heart Rhythm
Authors
Keywords
Abstract

Inherited arrhythmia syndromes are collectively associated with substantial morbidity, yet our understanding of the genetic architecture of these conditions remains limited. Recent technological advances in DNA sequencing have led to the commercialization of genetic testing now widely available in clinical practice. In particular, next-generation sequencing allows the large-scale and rapid assessment of entire genomes. Although next-generation sequencing represents a major technological advance, it has introduced numerous challenges with respect to the interpretation of genetic variation and has opened a veritable floodgate of biological data of unknown clinical significance to practitioners. In this review, we discuss current genetic testing indications for inherited arrhythmia syndromes, broadly outline characteristics of next-generation sequencing techniques, and highlight challenges associated with such testing. We further summarize future directions that will be necessary to address to enable the widespread adoption of next-generation sequencing in the routine management of patients with inherited arrhythmia syndromes.

Year of Publication
2015
Journal
Heart Rhythm
Volume
12
Issue
5
Pages
1062-70
Date Published
2015 May
ISSN
1556-3871
URL
DOI
10.1016/j.hrthm.2015.01.011
PubMed ID
25625719
PubMed Central ID
PMC4410060
Links
Grant list
K23HL114724 / HL / NHLBI NIH HHS / United States
1R01HL104156 / HL / NHLBI NIH HHS / United States
K24 HL105780 / HL / NHLBI NIH HHS / United States
R01 HL104156 / HL / NHLBI NIH HHS / United States
R01 HL092577 / HL / NHLBI NIH HHS / United States
U19 HL065962 / HL / NHLBI NIH HHS / United States
HL065962 / HL / NHLBI NIH HHS / United States
U01 HL065962 / HL / NHLBI NIH HHS / United States
1K24HL105780 / HL / NHLBI NIH HHS / United States
1R01HL092577 / HL / NHLBI NIH HHS / United States
2014105 / Doris Duke Charitable Foundation / United States
K23 HL114724 / HL / NHLBI NIH HHS / United States