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Genetic testing for cardiovascular diseases – a molecular approach

posted on 8/9/2018 Facebook Facebook

 A cardiovascular disease especially Coronary Heart Disease has assume epidemic proportions worldwide but now becomes the leading cause of mortality in India. Ischemic heart disease and stroke are the predominant causes and are responsible for >80% of CVD deaths. The Global Burden of Disease study estimate of age-standardized CVD death rate in India is higher than the global average of population. India .Risk factors mainly include physical inactivity, unhealthy eating habits, low fruits and vegetables intake, dyslipidemias, smoking, diabetes, hypertension, abdominal obesity and psychosocial stress. These reports draw the attention of research panel to provide insight upon molecular etiology of cardiovascular diseases, validate them and get it through clinics.

Genetic testing is a valuable tool for managing inherited cardiovascular disease in patients and families, including hypertrophic, dilated, and arrhythmic cardiomyopathies and inherited arrhythmias. By identifying the cause at molecular level, genetic testing can improve diagnosis and refine family management. However, genetic test are unique in its application and interpretation from traditional laboratory based test so results may show variations. Clinicians and patients should be given a proper pre-test consultation by a genetic counsellor about benefits, implications and limitations of genetic testing in order to achieve best possible outcomes.

Successfully incorporating genetic testing into clinical practice requires (1) recognizing when inherited cardiovascular disease may be present, (2) identifying appropriate individuals in the family for testing, (3) selecting the appropriate genetic test, (4) understanding the complexities of result interpretation, and (5) effectively communicating the results and implications to the patient and family. Obtaining a detailed family history is critical to identify families who will benefit from genetic testing. Instead of focusing on an individual patient, genetic testing requires consideration of the family as a unit. Consolidation of care in centers with a high level of expertise like counselors is required to communicate with family. Clinicians without expertise in genetic testing will benefit from establishing referral or consultative networks with experienced genetic expert in specialized multidisciplinary clinics.

Genetic testing provides a base for transitioning to more accurate and personalized management. By differentiating phenotypic subgroups, identifying disease intervention, and focusing family care, gene-based diagnosis can improve management. The pace of change in sequencing technologies has begun to transform clinical medicine, and cardiovascular disease is no exception. The complexity of such studies emphasizes the importance of real-time communication between the genetics laboratory and genetically informed clinicians. New efforts in data and knowledge management will bring advancement in cardiovascular genetics and wide range of interpretative challenges.

By: Ruchi Bhajeewala, Genetic Counselor, Positive Bioscience

Disclaimer: The opinions expressed in this blog are representative of the author and may not express the views of Positive Bioscience. This blog is intended for education and information for the general public. Before making any medical decisions a medical professional must be consulted. All rights reserved.

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