Features Partner Sites Information LinkXpress hp
Sign In
Advertise with Us

Roche Diagnostics

Develops, manufactures, and markets a wide range of in vitro diagnostic systems, instruments, reagents, and tests read more Featured Products: More products

Download Mobile App




Expanded Genetic Testing Leads to Additional Cardiomyopathy, Arrhythmia Diagnoses

By LabMedica International staff writers
Posted on 17 Aug 2022

Genetic testing for nonischemic cardiomyopathies and inherited arrhythmias is recommended by cardiovascular societies to establish a genetic diagnosis, guide clinical management, and identify family members at risk. More...

However, many individuals with cardiomyopathies or arrhythmias do not receive genetic testing and therefore cannot benefit from gene-specific clinical management. Barriers to testing include limited clinician knowledge of genetics and results interpretation as well as real and perceived concerns regarding cost, insurance coverage, and low diagnostic yields.

Medical Scientists at the Feinberg School of Medicine (Chicago, IL, USA) and their colleagues performed a cohort study that involved a retrospective review of DNA sequencing results for cardiomyopathy- and arrhythmia-associated genes. The study included 4,782 patients with a suspected genetic cardiomyopathy or arrhythmia who were referred for genetic testing by 1,203 clinicians; all patients participated in a no-charge, sponsored genetic testing program for cases of suspected genetic cardiomyopathy and arrhythmia at a single testing site from July 12, 2019, through July 9, 2020.

Next-generation sequencing gene panels were used to simultaneously test for both sequence and exon-level copy number variants. Up to 150 genes associated with cardiomyopathies or arrhythmias were sequenced. The primary panel included 67 genes with established associations with cardiomyopathies and arrhythmias. Four optional add-on panels that included genes with preliminary associations with cardiomyopathies and arrhythmias could be ordered initially or after receipt of initial results without charge. Each gene was targeted with oligonucleotide baits (Agilent Technologies, Santa Clara, CA, USA; Roche, Pleasanton, CA, USA; Integrated DNA Technologies, Coralville, IA, USA) that were designed to capture exons and 10 bases of flanking intronic sequences.

The investigators reported that among 4,782 patients (mean age, 40.5± 21.3 years; 2,551 male [53.3%]) who received genetic testing, a positive result (molecular diagnosis) was confirmed in 954 of 4,782 patients (19.9%). Of those, 630 patients with positive results (66.0%) had the potential to inform clinical management associated with adverse clinical outcomes, increased arrhythmia risk, or targeted therapies. Combined cardiomyopathy and arrhythmia gene panel testing identified clinically relevant variants for 15 patients suspected of having a genetic cardiomyopathy or arrhythmia. If only patients with a high suspicion of genetic cardiomyopathy or arrhythmia had been tested, at least 137 positive results (14.4%) would have been missed.

If testing had been restricted to panels associated with the clinician-provided diagnostic indications, 75/689 positive results (10.9%) would have been missed; 27/75 findings (36.0%) gained through combined testing involved a cardiomyopathy indication with an arrhythmia genetic finding or vice versa. Cascade testing of family members yielded 402 of 958 positive results (42.0%). Patients referred for arrhythmogenic cardiomyopathy had the lowest rate of variants of uncertain significance (81/176 patients [46.0%]), and patients referred for catecholaminergic polymorphic ventricular tachycardia had the highest rate (48/76 patients [63.2%]).

Elizabeth M. McNally, MD, PhD, Professor of Genetic Medicine and senior author of the study said, “Notably, this study found a 10.9% gain in genetic diagnoses that would have been missed if testing had been limited to genes associated with a single cardiomyopathy or arrhythmia subtype.”

The authors concluded that comprehensive genetic testing for cardiomyopathies and arrhythmias revealed diagnoses that would have been missed by disease-specific testing. In addition, comprehensive testing provided diagnostic and prognostic information that could have potentially changed management and monitoring strategies for patients and their family members. They added that the benefits of identifying additional cases outweighs the risks posed by detecting variants of uncertain significance, which were found in 51.2% of their cohort. The study was published on August 10, 2022 in the journal JAMA Cardiology.

Related Links:
Feinberg School of Medicine 
Agilent Technologies 
Roche
Integrated DNA Technologies 


Gold Member
Cardiovascular Risk Test
Metabolic Syndrome Array I & II
Portable Electronic Pipette
Mini 96
Sperm Quality Analyis Kit
QwikCheck Beads Precision and Linearity Kit
Blood Glucose Test Strip
AutoSense Test
Read the full article by registering today, it's FREE! It's Free!
Register now for FREE to LabMedica.com and get access to news and events that shape the world of Clinical Laboratory Medicine.
  • Free digital version edition of LabMedica International sent by email on regular basis
  • Free print version of LabMedica International magazine (available only outside USA and Canada).
  • Free and unlimited access to back issues of LabMedica International in digital format
  • Free LabMedica International Newsletter sent every week containing the latest news
  • Free breaking news sent via email
  • Free access to Events Calendar
  • Free access to LinkXpress new product services
  • REGISTRATION IS FREE AND EASY!
Click here to Register








Channels

Hematology

view channel
Image: New evidence shows viscoelastic testing can improve assessment of blood clotting during postpartum hemorrhage (Photo courtesy of 123RF)

Viscoelastic Testing Could Improve Treatment of Maternal Hemorrhage

Postpartum hemorrhage, severe bleeding after childbirth, remains one of the leading causes of maternal mortality worldwide, yet many of these deaths are preventable. Standard care can be hindered by delays... Read more

Immunology

view channel
Image: The CloneSeq-SV approach can allow researchers to study how cells within high-grade serous ovarian cancer change over time (Photo courtesy of MSK)

Blood Test Tracks Treatment Resistance in High-Grade Serous Ovarian Cancer

High-grade serous ovarian cancer (HGSOC) is often diagnosed at an advanced stage because it spreads microscopically throughout the abdomen, and although initial surgery and chemotherapy can work, most... Read more

Industry

view channel
Image: The collaboration supports clinical validation and regulatory submissions of the new T1D 4-plex assay on Revvity’s GSP instrument (Photo courtesy of Revvity)

Revvity and Sanofi Collaborate on Program to Revolutionize Early Detection of Type 1 Diabetes

Type 1 diabetes (T1D) is a lifelong autoimmune condition in which the immune system destroys the pancreas’s insulin-producing beta cells, leading to dependence on insulin therapy. Early detection is critical... Read more
Copyright © 2000-2025 Globetech Media. All rights reserved.