Individual Genomes and Personalized Medicine: Life Diversity and Complexity

Abstract

…insights into genetic variation and molecular mechanisms underlying human diversity have improved our understanding of the complexity of life and disease heterogeneity.

Personalised Medicine: A Critique on the Future of Health Care

“…A personalised medicine approach can include, but is not limited to, decisions concerning an individual's response to drugs or the environment, treatment options, and reproductive or lifestyles choices (Bentley 2004;Burke and Psaty 2007;Burke et al 2010;Evans and Khoury 2007;Ginsburg and McCarthy 2001;Guttmacher, Porteous, and McInerney 2007;Hamburg and Collins 2010;Hedgecoe 2004;Katsios and Roukos 2010;Khoury 1996;Meyer and Ginsburg 2002;Reardon 2011;Snyderman and Sanders Williams 2003;Thrall 2004;Willard, Angrist, and Ginsburg 2005). A central part of this formulation of personalised medicine is the reliance on, and necessary involvement of, new biotechnologies-specifically new forms of genetic testing.…”

Risk Factors and Early Detection of Breast Cancer: Facts, Questions, and Genome-Based Perspectives

“…The high complexity involved in the understanding of how these driver mutations and epigenome events dysregulate critical cell signalling pathways, biomolecular networks, and biologic systems homeostasis leading to tumorigenesis explains the current limitations in personalized risk assessment and prevention of the disease. Whether all these problems can be resolved by using next-generation sequencing for exome and wholegenome sequencing and rapid advances in systems and synthetic biology for predicting biomolecular networks will result in the discovery of novel robust biomarkers for early detection at a very early stage in asymptomatic women and new preventive drugs is still unknown [2][3][4][5][6][7][8][9] .…”

Innovation versus evidence: to trust direct-to-consumer personal genomic tests?

“…Validation and assessment of causal (driver) mutations involved in disease pathogenesis, progression and therapeutic response to drugs shapes current thinking and opens new ways for personalized disease risk prediction, prevention and treatment. However, there is a big gap in moving from this excellent genotyping approach to clinical applications as multiple problems and challenges need to be overcome [5,6].…”