Back to Search
Start Over
Yield of genetic screening in inherited cardiac channelopathies: how to prioritize access to genetic testing
- Source :
- Circulation. Arrhythmia and electrophysiology. 2(1)
- Publication Year :
- 2009
-
Abstract
- Background— Identification of mutations in cardiac ion channel genes concurs to the diagnosis of long-QT syndrome, Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia. However, because availability of genetic screening is still limited and reimbursement policies are lacking, there is a need of evidence-based criteria to prioritize access to genetic testing for these diseases. Methods and Results— We determined the yield of genetic testing and cost per positive genotyping in 1394 consecutive probands. Among the 546 patients referred for long-QT syndrome-genes screening, those with clinical diagnosis of long-QT syndrome had the highest yield (64%) and lowest cost (US $8418) for each positive genotyping. Among 798 individuals screened for mutation on the SCN5A gene, the highest yield was obtained in patients with type 1 Brugada syndrome ECG pattern (51 of 405; 13%) corresponding to a cost of US $21441 per positive genotyping. In conclusive Brugada syndrome patients the presence of atrioventricular block (odds ratio: 3.3, CI: 1.8 to 6.1; P =0.0001) increases the yield (23%) of genotyping and reduces its cost (US $ 11700). Among 175 patients screened on RyR2 gene, those with documented bidirectional ventricular tachycardia had the highest incidence (62%) of mutations and the lowest cost (US $5263) per positive genotyping. Genetic screening of unselected family members of sudden cardiac death victims and idiopathic ventricular fibrillation survivors is largely ineffective (yield of 9%) and costly (US $71430 per 1 positive genotyping). Conclusions— Genotyping can be performed at reasonable cost in individuals with conclusive diagnosis of long-QT syndrome and catecholaminergic polymorphic ventricular tachycardia, and in patients with type I Brugada syndrome ECG with atrioventricular block. These patients should be given priority to access genetic testing.
- Subjects :
- Male
Cost-Benefit Analysis
Muscle Proteins
Ventricular tachycardia
Health Services Accessibility
Ion Channels
Sodium Channels
Sudden cardiac death
NAV1.5 Voltage-Gated Sodium Channel
Mass Screening
Atrioventricular Block
Child
Brugada syndrome
Brugada Syndrome
medicine.diagnostic_test
Health Care Costs
Long QT Syndrome
Phenotype
Italy
Potassium Channels, Voltage-Gated
Insurance, Health, Reimbursement
Female
Cardiology and Cardiovascular Medicine
Adult
medicine.medical_specialty
Adolescent
Genetic counseling
Long QT syndrome
Catecholaminergic polymorphic ventricular tachycardia
Young Adult
Predictive Value of Tests
Physiology (medical)
Internal medicine
medicine
Humans
Genetic Predisposition to Disease
cardiovascular diseases
Genetic Testing
Genotyping
Genetic testing
Retrospective Studies
business.industry
Health Priorities
Patient Selection
Arrhythmias, Cardiac
Ryanodine Receptor Calcium Release Channel
medicine.disease
Surgery
Logistic Models
Mutation
Tachycardia, Ventricular
business
Subjects
Details
- ISSN :
- 19413084
- Volume :
- 2
- Issue :
- 1
- Database :
- OpenAIRE
- Journal :
- Circulation. Arrhythmia and electrophysiology
- Accession number :
- edsair.doi.dedup.....2c371fd3c53b1914cb7943d039f716be