Personalized Medicine: Understanding Probabilities and Managing Expectations

Abstract

Personalized medicine promises to represent a transformation in clinical care that will be ushered in by the unprecedented growth and development in the field of human genetics. Further examination of the scientific foundations of this new hope reveals a great number of challenges that lie ahead. While basic science research feverishly races to produce solutions, we continue to wait for the translation of deliverables. Products that have and will come to market may leave our clinical communities and systems exposed and unprepared. At each step, from basic science research to infrastructure development, a great deal of creativity and investment are required before the arsenal of more personalized tools can be assimilated into our current models of health care. This commentary seeks to share perspectives on the current status of personalized medicine from the vantage point of several potential investors, and integrate them into a common set of goals and understanding. We conclude that the stylized model of personalized medicine is more akin to a marketing tool than a literal prediction of the future.

Human Genome Project, Personalised Medicine and Future Health Care

“…Due to these developments, PM continues to attract major research funding and media attention, and yet the expectations raised by the promise of targeted, individualised treatments are far from being fulfilled (Keating & Cambrosio, 2013;Khoury et al, 2010;Laksman & Detsky, 2011;Longo, 2012). This is largely due to the complexity of building therapeutic F o r R e v i e w O n l y ELS interventions in the absence of a robust, integrated understanding of biological systems and their relation to their environment.…”

“…More advanced applications of PM thus involve a complex interweaving of biological and medical knowledge, as well as increasing attention to the technical systems through which data about any specific individual could be processed -a shift in the expertise required to develop medical interventions which has strong repercussions for the ways in which medical research is supported, disseminated, managed and translated into therapies. Further, PM requires the development of an industry of consumer genomic services, whose cultural and social consequences need to be assessed and which raises serious ethical questions ranging from privacy and data control (Lunshof, Church, & Prainsack, 2014) and the impact of genomic risk-based information Laksman & Detsky, 2011;Lyon, 2012), to the risk that dependence on sophisticated medical technologies will widen the gap between haves and have-nots both globally and within any one country.…”

“…The combined results of cross-comparison of the data between different genes of one organism and between the genes and genomes of different organisms, the development of targeted and conditionally switchable animal models for human disease, and the large-scale parallel analysis of gene-expression profiles of tissues in normal versus diseased state and during growth and development has been seen as promise to fundamentally improve our diagnostic capacities. However, attempts to develop therapeutic routes, such as gene therapy and targeted drug development, have indicated the need for more complex models of animal life and disease that account for emergent organizational structures other than genetic code in its various forms (Keating & Cambrosio, 2013;Laksman & Detsky, 2011;Longo, 2012;Samani, Tomaszewski, & Schunkert, 2010). To continue developing our understanding of life, genomic approaches need to be related to knowledge and research from other domains of biology.…”

“…Genomics have not translated in a one-stop shop solution for the development of nextgeneration drugs and therapies, and as a result, the debate about translational medicine has arisen as a major concern. The issues that are connected to this slow coming revolution are of technical (Hicks, Wheeler, Plon, & Kimmel, 2011;Longo, 2012) and epistemological nature (Keating & Cambrosio, 2013;Laksman & Detsky, 2011), as well as ethical Makałowski et al, 2014;Smith & Porter, 2014). These limitations, coupled with the sheer amount of data that are generated, have overwhelmed our capacities of selecting, linking and interpreting evidence of variation, and of maintaining standardized knowledge bases in shared databases.…”

“…Tests are becoming increasingly affordable, and yet not only genomics-based discovery (Ashley et al, 2010;Lupski et al, 2010) diagnostics and therapeutics often relies on the consultation of expert panels to analyse ever more complex patient profiles and discuss best treatment options for a patient -clearly not something that everybody can afford in the same terms. Genetic counselling will be F o r R e v i e w O n l y necessary also for understanding the different degrees of reliability of the tests (and the linked risk of unnecessary therapeutic harm in the case of false positives) and the increasing number of risk factors being identified (Laksman & Detsky, 2011). As a result of differences in the assistance available in deciphering patient profiles, personalized medicine and healthcare might become increasingly unequal.…”