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4bases’ Paper of the Month – September 2023 – A Practical Guide to Genetic Testing inInherited Heart Disease

Progress in the field of genetic sequencing has ushered in an era of fast and affordable sequencing, enabling the identification of the molecular underpinnings of numerous diseases. This advancement has proven particularly valuable in characterizing various cardiac pathologies. Consequently, the application of genetic testing has become intriguing for confirming diagnoses, offering vital insights into recommended patient lifestyles and medications, as well as facilitating family screening.

This paper delves into the utility of genetic testing for inherited heart diseases. Genetic testing, in the context of diagnostic assessments, plays a pivotal role in distinguishing between phenocopies, which arise due to environmental factors rather than genetic mutations. Such differentiation provides critical information essential for both medical and familial management.

Moreover, genetic testing contributes significantly to risk assessment and medical management. It offers valuable insights into individual and familial risks, enabling medical interventions even in the absence of overt symptoms, thanks to the reduced penetrance of the disease. Additionally, it aids in identifying conditions where patients could benefit from an Internal Cardiac Defibrillator at an early stage. Furthermore, this method guides tailored lifestyle recommendations, aligning patient habits with disease-specific triggers. It also assists in formulating targeted pharmacological therapy strategies. Lastly, genetic testing provides anticipatory guidance by identifying genetic variations that elevate the risk of heart failure, atrial fibrillation, or other arrhythmias, prompting closer follow-ups and frequent cardiac screenings for at-risk patients.

Cascade screening, a key aspect of genetic testing, holds promise for inherited cardiopathies. Since most of these conditions exhibit autosomal dominant inheritance patterns, genetic testing can help avoid costly, stressful, and time-consuming cardiac screenings for first-degree relatives who test negative.  For those who test positive, early diagnosis paves the way for effective intervention strategies.

The paper also underscores the pivotal role of genetic counseling, emphasizing the significance of both pre-and post-test counseling in providing families with essential information, addressing risk factors, and managing psychological impacts. 

Lastly, the recommended approach for genetic screening is thoroughly reviewed. While genetic testing can be conducted using blood samples, it is commonly performed using saliva samples for convenience. The authors recommend initiating the process with the most affected individual within the family through panel testing. The choice of the panel, whether disease-focused or broad-spectrum, should be tailored to the personal and familial medical histories of the patients, as well as its capacity to handle variants of uncertain significance.

We at 4bases take pride in offering the user-friendly and high-performance CardioPro kit for characterizing familial cardiovascular diseases. By incorporating all genes recently identified as associated with cardiomyopathies and rare heart diseases, in accordance with the latest guidelines and recommendations, we offer genetic counselors and cardiologists a tool to empower patients and their families with invaluable insights into their conditions and thestrategies for effectively managing them.

Brown, E., & Murray, B. (2023). A practical guide to genetic testing in inherited heart disease. Cardiac Electrophysiology Clinics, 15(3), 241‑247. https://doi.org/10.1016/j.ccep.2023.05.005


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