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Precision Diagnostics with AI and Cardiogenomics for Heart Conditions

NextEdge Admin

29 Sep 2024

2 min 54 sec

Advances in artificial intelligence (AI) and cardiogenomics are revolutionizing the early detection and personalized treatment of cardiovascular diseases (CVDs). Genetic testing, endorsed by the American Heart Association (AHA) in 2020, has become an essential tool for patients with cardiomyopathy, arrhythmic, vascular, and lipid disorders like familial hypercholesterolemia. The AHA identified 30 medically actionable genes related to cardiovascular health, enabling physicians to order tests ranging from single-gene panels to whole-genome sequencing. Although whole-genome sequencing is more common in research, it aids in advancing knowledge of gene-disease relationships, offering critical insights for patient care.

One significant benefit of cardiogenomics is its ability to assess the cumulative effect of small gene variants—single nucleotide polymorphisms (SNPs)—that increase CVD risk. Researchers can generate polygenic risk scores (PRS) using this data, predicting an individual's susceptibility to heart disease before clinical symptoms appear. These risk scores play a pivotal role in precision medicine, allowing clinicians to tailor preventative measures and treatment strategies based on genetic predispositions.

AI further enhances the precision diagnostics of heart conditions, particularly in analyzing electrocardiograms (ECGs). ECG is a widely available, low-cost diagnostic tool that can reveal early signs of CVDs. However, its effectiveness is often limited by the clinician’s expertise and the complexity of the raw data, which contains thousands of data points. AI's computational power and learning ability enable it to detect subtle, clinically relevant patterns in ECG data that may be overlooked by human interpretation. These insights provide early and more accurate diagnoses of conditions like ventricular dysfunction, aortic stenosis, and cardiomyopathies.

By integrating AI-driven analysis and cardiogenomics, healthcare professionals can develop personalized treatment plans that address each patient's unique genetic risk profile. This approach enhances the accuracy of CVD diagnoses, improves patient outcomes, and advances precision medicine in cardiology.