lunes, 17 de noviembre de 2014

Working towards personalization of Medicine: Genomics in 2014, Personalized Medicine, Future Medicine

Working towards personalization of Medicine: Genomics in 2014, Personalized Medicine, Future Medicine

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Vol. 11, No. 7, Pages 611-613 , DOI 10.2217/pme.14.79

Working towards personalization of Medicine: Genomics in 2014

George P Patrinos & Barbara Prainsack
Author for correspondence: 

The meaning of the concept of ‘personalized medicine’ has changed significantly over the last 10 years. While it was once used to refer primarily to pharmacogenomics - the individualization of treatment based on an individuals’ genomic profile – many scientists, practitioners and policy makers now use the term more inclusively. Today, personalized medicine often refers to the consideration of individual, molecular, epigenetic and even non-molecular, characteristics of individuals in clinical decision making more widely [1–3].
While the imperative to use genomic information is now frequently accompanied by a quest to collect and utilize wider ranges of information for the personalization of medical practice and research, it still plays an important role. Genomic and epigenomics information, for example, can not only play a role in the personalization of medical treatment modalities, but it can also aid the diagnosis and prognosis of a wide variety of rare diseases. This, in turn, has the potential to improve the quality of life of patients, and in some cases also leads to a reduction of healthcare costs. The latter can be particularly valuable for developing countries, where healthcare budgets are typically very limited. In the last years, genomics in particular has gain momentum also because of the recent advances in genome-related informatics, rendering molecular diagnostics more accurate, informative and at the same time more affordable.
This Special Issue was put together with the aim of illustrating the wide range of ways in which genomics is put to use for personalized medicine. Rather than merely outlining the potentials of genomics in this respect, however, contributions to this Special Issue also discuss some of the problems, including unintended social effects, and ethical challenges.
The paper by Lada Leyens and colleagues, provides a helpful insight into how the meaning of personalized medicine has broadened in recent years [4]. On the basis of an analysis of 16 policy documents and reports on personalized medicine, the authors then discuss the most pressing challenges for those working towards greater personalization of medical practice and healthcare. The authors also highlight the importance of the European Science Foundation's (ESF) Report on Personalized Medicine for the European Citizen in thinking systematically about how these challenges can be addressed [2].
The paper titled ‘Bridging genomics research between development and developing countries’, gives an introduction into the Genomic Medicine Alliance (GMA) [5,6]. The GMA is a global network with the aim of creating and strengthening ties between researchers and practitioners working on pharmacogenomics and genomic medicine around the world. The network currently comprises over 250 members from over 60 countries worldwide; the members of its multidisciplinary scientific advisory committee are the authors of this paper. Albeit not strictly limited to genomics in its remit, the GMA foregrounds genomic research and practice as areas where partnerships between life scientists, medics, social and ethical scholars from both resource-rich and resource-poor areas in the world can be particularly helpful. This is not only the case because resource-poor countries can benefit from technology and knowledge transfer from resource-rich countries, but the benefits are hoped to be much wider: Increasing collaboration between researchers in different world regions will hopefully help to mitigate the marginalization of molecular research into conditions and problems that are more prevalent in the developing world.
A third contribution to this volume, a review article by Josiah Radder, Steven Shapiro, and Annerose Berndt, looks at an area where personalized approaches using genetic and genomic data are still very rare, namely chronic complex diseases [7]. Current disease classifications, so the authors argue, are too coarse and broad, lumping together patients with different etiology and symptoms. The systematic collection and use of phenotypic as well as genotypic information could help to address some of the problems stemming from this. "Improved classification of patients into carefully defined subpopulations", Radder and colleagues argue, will help "to determine disease susceptibility, understand the clinical course of a disease, and prescribe appropriate pharmacologic and other therap[ies]." IT solutions clearly play a very important role in this endeavor.
Carsten Carlberg and Hannu Raunio's also highlight the importance of integrated personal databases [8]. Integrated personal ‘omics databases, they argue, could have considerable benefits for clinical decision making [9]. The introduction of such a data-rich approach into routine healthcare would, however, also bring with it new challenges, namely the need for medical professionals to manage and navigate increasing amounts of data and information. Here, Carlberg and Raunio see a clear role for patients, who according to these authors should be actively involved in interpreting and managing their personal data, further highlighting the need for unrestricted genomics data sharing.
But what about patients who cannot, or do not want to, do that? And how can we bring the consideration of the ‘subjective’ personal needs of individual patients into discussions about the cost-effectiveness of personalized medicine interventions? In their paper on ‘Psychological stress associated with cardiogenetic conditions’, Nadia Hidayatallah and colleagues draw upon interviews with cardiovascular 50 patients [10]. Many inherited cardiac arrhythmias remain undiagnosed, because medical professionals often have not been trained to do this. For patients who receive a positive test result for an inherited arrhythmia, this knowledge has complex consequences. Depending on their concrete history, situation, and relationships, receiving this information can have very positive, or very negative, psychological and social implications. The paper raises the important question of how we can assess the costs and benefits of genetic technologies in a situation where the assessment of these is necessarily deeply personal. The authors show once more that the utility of a genetic test has many more dimensions than merely ‘clinical’ utility. The different meanings and manifestations of utility should be taken into account when assessing the cost-effectiveness of a genetic testing service (and personalized medicine interventions more generally).
Barbara Prainsack addresses a similar problem, yet from a different angle [11]. The paper argues that the particular way in which we understand personhood has consequences for how we realize personalized medicine. In contrast with the dominant Western understanding of persons as self-interested autonomous individuals, not only people's lives but also their personalities and decisions are shaped also by their social relations, and by concern for others. In the quest to find a way to ensure that a person's social situation, and their commitments and preferences, can be included in the kinds of ‘evidence’ that we use in clinical decision making, the paper proposes the consideration of ‘social biomarkers’ in personalized medicine wherever this is reasonably possible. In this manner, personalized medicine could recognize the ‘subjective’ needs of patients, and at the same time help to make health inequalities harder to ignore.
Finally, the paper by Natalie Egalite, Iris Jaitovich Grosman, and Beatrice Godard, highlights the importance of ethical expertise in the development of personalized medicine [12]. Using the example of personalized oncology, where the exclusion and marginalization of patients takes many, and sometimes unexpected forms, the authors highlight the overarching importance of the quest to decrease social inequalities in the ethical discourse on personalized medicine.
There is a growing need for effective, meaningful and socially just ways to translate genomics advances into clinical benefits. If we understand personalization to mean the consideration of characteristics and needs of patients when making clinical decisions, then personalized medicine can be a part of this endeavor. A translational approach that understands personalization in such a more holistic way requires increasing attention to – and funding for – dry-lab and public health genomics disciplines. These include ethics, social science and economic evaluation, the improvement of genomic literacy via the engagement with the scientific, ethical, and social aspects of genomics by all actors, as well as genome informatics and data interpretation. Moreover, more incentives are needed for researchers and practitioners to enter collaborations spanning more diverse countries than is currently the case, including developing countries. Such collaborations should be ideally taking the form of multinational research consortia, to expedite also the integration of genomics in public health and to overcome fragmentation of the genomic medicine environment. Program developers in research funding bodies should foreground these areas to encourage formation of groups and consortia working towards addressing these needs.
As the past decade featured significant discoveries in the field of pharmacogenomics and genomics research, the next decade will be likely characterized by measures and policies to maximally exploit these scientific discoveries to the benefit of the patients and societies in all parts of the world.
The compilation of this Special Issue was encouraged by the Genomic Medicine Alliance. We wish to thank the authors of this Special issue for their timely contributions. GP Patrinos and B Prainsack are members of the Scientific Advisory Committee of the Genomic Medicine Alliance.
Financial & competing interests disclosure
The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.
No writing assistance was utilized in the production of this manuscript.


1.(US) National Academy of Sciences (NAS)Toward Precision Medicine: Building a Knowledge Network for Biomedical Research and a New Taxonomy of DiseaseNASWashington, DC (2011).
2.European Science Foundation (ESF)Personalised Medicine for the European Citizen – towards more precise medicine for the diagnosis, treatment and prevention of diseaseESFStrasbourg (2013).
3.Weber GMMandl KD, & Kohane ISFinding the missing link for big biomedical dataJ. Am. Med. Assoc.331(24), 24792480 (2014).
4.Leydens LHorgan DLal JASteinhausen KSatyamoorthay KBrand AWorking towards personalization in medicine: main obstacles to reaching this vision from today's perspectivePers. Med. 11(7), 641649(2014).
5.Cooper DNBrand ADolzan V et al. Bridging genomics research between developed and developing countries: The Genomic Medicine AlliancePers. Med. 11(7) 669679 (2014).
6.Genomic Medicine
7.Radder JEShapiro SDBerndt APersonalized Medicine for Chronic, Complex Diseases: COPD as an ExamplePers. Med. 11(7), 669679 (2014). [Abstract]
8.Carlberg CRaunio HFrom pharmacogenomics to iPOP: a gap in implementation into healthcarePers. Med.11(7), 625629 (2014). [Abstract]
9.Chen RMias GILi-Pook-Than J et al. Personal omics profiling reveals dynamic molecular and medical phenotypesCell 148, 12931307 (2012). [CrossRef] [Medline] [CAS]
10.Hidayatallaha NSilversteina LBStolerman M et al. Psychological Stress Associated with Cardiogenetic ConditionsPers. Med. 11(7), 631640 (2014).
11.Prainsack BPersonhood and solidarity: what kind of personalised medicine do we want? Pers. Med. 11(7),651657 (2014). [Abstract]
12.Egalite NGroisman IJGodard BPersonalized Medicine in Oncology: Ethical Implications for the Delivery of Health CarePers. Med. 11(7), 659668 (2014). [Abstract]


George P Patrinos
Department of Pharmacy; University of Patras, School of Health Sciences; University Campus, Rion, GR-26504; Patras, Greece
Barbara Prainsack
Department of Social Science, Health & Medicine; King's College London; Strand, London WC2R 2LS, UK

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