Table 5.
Best practices | Description |
---|---|
AI/ML algorithms predict common cardiovascular disease (coronary artery disease, diabetes, hypertension, arrhythmia) using personal genomics | Effective preventive medicine and clinical surveillance may be used to decrease cardiovascular disease morbidity and mortality for large, at-risk populations. |
AI/ML algorithm-based identification of monogenic causes of cardiovascular disease, for targeted drug development | Discovery of genes that cause cardiovascular disease identify potential targets for highly efficacious novel drug therapies (eg, statin drugs). |
AI/ML algorithm-based classification improvement for predicting rare genetic variants as benign or pathogenic | Targeted genetic testing in clinical genetics is fraught with the frequent observation of genetic variants of uncertain relevance. |
Gaps and challenges | Description |
Implementation of universal standards to clinically translate genomic AI/ML algorithms | AI/ML-based models must be validated and robust in prediction for routine use in clinical genetics. |
AI indicates artificial intelligence; and ML, machine learning.