Deep Phenotyping in Cardiovascular Disease

Abstract

Purpose of review

To review the opportunities and challenges of phenotyping cardiovascular diseases in the modern era.

Recent findings

More recently, the emerging field of precision medicine aims to provide the best available care for each patient based on stratification into new disease subclasses with a common biological basis. The discovery of such subclasses at the correct scale and speed, as well as the translation of this knowledge into clinical care, will depend critically upon digital and computational resources to capture, store, and exchange phenotypic data and upon sophisticated algorithms to integrate these data with genomic variation, functional genomics profiles, and existing clinical information. Deep phenotyping can be defined as the comprehensive and precise analysis of phenotypic traits/abnormalities for such stratification. Recently, the term phenotype has largely been used to understand the “binary” output of a specific genetic code, in so-called genotype-phenotype correlations, but this has tended to constrain the use of the terminology to artificially dichotomized disease syndromes.

Summary

In the modern world, as we incorporate functional genomics into disease analysis, there has been a call to transform our understanding of individual patients via deep phenotyping or a more comprehensive study of the phenotype, i.e., multidimensional phenomics. Cardiovascular medicine, with its heterogeneity, prevalence, and therapeutic options, is a prime focus of precision medicine. In this article, we outline the current state of deep phenotyping in cardiovascular disease, including the rationale, current challenges, and opportunities for the future.