Genomic translational research: Paving the way to individualized cardiac functional analyses and personalized cardiology

Abstract

For most of Medicine’s past, the best that physicians could do to cope with disease prevention and treatment was based on the expected response of an average patient. Currently, however, a more personalized/precise approach to cardiology and medicine in general is becoming possible, as the cost of sequencing a human genome has declined substantially. As a result, we are witnessing an era of precipitous advances in biomedicine and bourgeoning understanding of the genetic basis of cardiovascular and other diseases, reminiscent of the resurgence of innovations in physico-mathematical sciences and biology-anatomy-cardiology in the Renaissance, a parallel time of radical change and reformation of medical knowledge, education and practice. Now on the horizon is an individualized, diverse patient-centered, approach to medical practice that encompasses the development of new, gene-based diagnostics and preventive medicine tactics, and offers the broadest range of personalized therapies based on pharmacogenetics. Over time, translation of genomic and high-tech approaches unquestionably will transform clinical practice in cardiology and medicine as a whole, with the adoption of new personalized medicine approaches and procedures. Clearly, future prospects far outweigh present accomplishments, which are best viewed as a promising start. It is now essential for pluridisciplinary health care providers to examine the drivers and barriers to the clinical adoption of this emerging revolutionary paradigm, in order to expedite the realization of its potential. So, we are not there yet, but we are definitely on our way.

Know Me! Unraveling the Riddle of Calcific Aortic Valve Disease by Bioinformatics

“…With the burgeoning of the molecular revolution and the accompanying avalanche of bioinformatic mega-databases, new comprehensive methods have been and are being developed for investigating the genetic basis of polygenic traits and diseases, including CAVD (Pasipoularides 2010). Concomitantly, modern biologic methodology has shifted to methods for genomic-scale analysis like microarray and massively parallel technologies, which allow simultaneous assessing of numerous genes in a batch (Pasipoularides 2017). This has engendered a need for tools facilitating interpretation of biological data in batch-mode , to help pluridisciplinary data examination and quantitative analyses with interpretation of the findings.…”

“…Gene-set interpretation methods and software packages are now accessible, which apply a variety of sophisticated statistical tests to assess the functional annotation for the genes of any specified set of interest (Subramanian et al 2005). GWAS identify hundreds of genetic variants that are credibly associated with cardiovascular syndromes and outcomes, subclinical cardiovascular phenotypes, and risk factors for cardiovascular disease (CVD) (Pasipoularides 2015d, 2017). However, the numerous interacting individual genetic variants identified typically explain a very small fraction of the variation in complex traits such as CAVD and thus have limited predictive capacity for the resulting overall disease risk.…”

“…The liability of individuals actually diagnosed with the disorder is ≥ the threshold on such a liability scale. Continued investigative efforts focus on expanding our knowledge of CVD genomics (O’Donnell and Nabel 2011; Pasipoularides 2017). Aggregating information about multiple variants, each with small effects, into a single genetic risk score (GRS), or polygenic risk score, is useful for examining the cumulative predictive ability of genetic variation at known loci on the phenotype (Krarup et al 2015).…”

“…Concurrently, future multidisciplinary studies will characterize the adaptive/maladaptive nature of the AVS-induced hypertrophy, its gender- and individual patient-dependent peculiarities, and its response to surgical/medical interventions (Pasipoularides 2016a, b). They will herald more effective, precision medicine treatments (Pasipoularides 2015d, 2017). …”

Exploring Genetic Numeracy Skills in a Sample of U.S. University Students

“…In the years since completion of the Human Genome Project, the potential to improve health—spurred by innovations in information and technology—has not been fully realized ( 1 ). Yet the promises of personalized medicine to improve drug therapies ( 2 ), primary care ( 3 ), and patient empowerment ( 4 ) have captured both the lay public’s and health professionals’ imaginations. Geneticists, clinicians, and the public health workforce remain hopeful that integrating genetics into clinical practice and public health initiatives (as in personalized medicine and family health histories) will not only improve quality of care but will also alter health behaviors ( 3 ) and increase health equity ( 5 ).…”