Working towards personalization of Medicine: Genomics in 2014 (original) (raw)
Related papers
Current Developments in Genomics and Personalized Health Care: Impact on Public Health
Asia-Pacific Journal of Public Health, 2008
The knowledge gained from the characterization of genomes, especially the human genome, holds considerable potential for the development of new health care innovations for prevention, diagnosis, and management of many diseases in the coming decade. However, owing to the presence of highly complex scientific, economic, social, and ethical issues associated with this field, societies will need to be better prepared for the era of postgenomics and its consequences. It is important to ensure that the benefits of genomics are distributed fairly among all the countries of the world and that the well-tried and more conventional approaches to medical research and practice are not neglected while the medical potential of genomics is being explored. In this report, the author focuses mainly on human genomics, its applications, development of related technologies and issues related to the dissemination of knowledge derived from genome information, and finally, their impact on global health care.
Personalized Medicine in the Era of Genomics
Handbook of Research on Computational Intelligence Applications in Bioinformatics, 2000
Personalized medicine is a model that aims at customizing healthcare and tailoring medicine according to an individual`s genetic makeup. It classifies individuals that differ in their susceptibility to a particular disease or response to a particular treatment into subpopulations based on individual's unique genetic and clinical information along with environmental factors. The completion of Human Genome Project and the advent of high-throughput genome analysis tools has helped in building and strengthening this model. There lies a huge potential in the implementation of personalized medicine to significantly improve the clinical outcomes; however, its implementation into clinical practice remains slow and is a matter of concern. This chapter aims at acquainting readers with the underlying concepts and components of personalized medicine supplemented with some disease-based case studies, discussing challenges and recent advancements in the implementation of the model of personalized medicine.
The human genome project, and recent advances in personalized genomics.
The language of ‘personalized medicine’ and ‘personal genomics’ has now entered the common lexicon. The idea of personalized medicine is the integration of genomic risk assessment alongside other clinical investigations. Consistent with this approach, testing is delivered by health care professionals who are not medical geneticists, and where results represent risks, as opposed to clinical diagnosis of disease, to be interpreted alongside the entirety of a patient’s health and medical data. In this review we consider the evidence concerning the application of such personalized genomics within the context of population screening, and potential implications that arise from this. We highlight two general approaches which illustrate potential uses of genomic information in screening. The first is a narrowly targeted approach in which genetic profiling is linked with standard population-based screening for diseases; the second is a broader targeting of variants associated with multiple single gene disorders, performed opportunistically on patients being investigated for unrelated conditions. In doing so we consider the organisation and evaluation of tests and services, the challenge of interpretation with less targeted testing, professional confidence, barriers in practice, and education needs. We conclude by discussing several issues pertinent to health policy, namely; avoiding the conflation of genetics with biological determinism, resisting the ‘technological imperative’, due consideration of the organisation of screening services, the need for professional education, as well as informed decision making and public understanding.
Clinical Ethics, 2014
The sequencing of the human genome and decreasing costs of sequencing technology have led to the notion of ‘personalized medicine’. This has been taken by some authors to indicate that personalized medicine will provide individualized treatments solely based on one’s DNA sequence. We argue this is overly optimistic and misconstrues the notion of personalization. Such interpretations fail to account for economic, policy and structural constraints on the delivery of healthcare. Furthermore, notions of individualization based on genomic data potentially take us down the road of genetic reductionism obscuring the role of environmental factors in disease and ill health. We propose that one should see personalized medicine as a way of using personal genomic information to stratify individuals into subpopulations and suggest that personalized medicine be seen within a broader idea of personalized healthcare, reflecting healthcare that integrates personal genomic data into cultural, environmental and personal contexts.
Background: In the area of omics and translational bio(medical)sciences, there is an increasing need to integrate, normalize, analyze, store and protect genomics data. Large datasets and scientific knowledge are rationally combined into valuable clinical information that ultimately will benefit human healthcare and are en route to clinical practice. Data from biomarker discovery and Next Generation Sequencing (NGS) are very valuable and will combine in comprehensive analyses to stratify medicine and guide therapy planning and ultimately benefit patients. However, the combination into useful and applicable information and knowledge is not trivial. NGS in personalized medicine: Personalized medicine generally promises to result in both higher quality in treatment for individual patients and in lower costs in health care since patients will be offered only such therapies that are more effective for them and treatments that will not be safe or effective will be avoided. Recent advancements in biomedical and genomic sciences have paved the way to translate such research into clinical practice and health policies. However, the move towards greater personalization of medicine also comes along with challenges in the development of novel diagnostic and therapeutic tools in a complex framework that assumes that the use of genomic information is part of a translational continuum, which spans from basic to clinical research, preclinical and clinical trials, to policy research and the analysis of health and economic outcomes. The use of next-generation genomic technologies to improve the quality of life and efficiency of healthcare delivered to patients has become a mainstay theme in the field as benefits derived from such approaches include reducing a patient’s need to go through ineffective therapies, lowering side- and off-target effects of drugs, prescribing prophylactic therapies before acute exacerbations, and reducing expenditures. Economic challenges: As such, personalized medicine promises to increase the quality of clinical care and, in some cases, to decrease health care costs. Besides the scientific challenges, there are several economic hurdles. For instance, healthcare providers need to know, whether the approach of personalized healthcare is affordable and worth the expenses. In addition, the economic rationale of personalized healthcare includes not only the reduction of the high expense of hospitalizations, the predictive diagnostics that will help to reduce cost through prevention or the increased efficacy of personalized therapies needs to offset prices of drugs. There are also several factors that influence payer adoption, coverage and reimbursement; the strength of evidence drives payers‘ decisions about coverage and reimbursement, varies widely depending on the personalized healthcare technology applied and regulation and cost-effectiveness seem to be increasingly associated with reimbursement, which is strongly influenced by professional society guidelines. In general, we see the following main obstacles to the advancement of personalized medicine: (i) the scientific challenges (a poor understanding of molecular mechanisms or a lack of molecular markers associated with some diseases, for example), (ii) the economic challenges (poorly aligned incentives), and (iii) operational issues in public healthcare systems. The operational issues can often be largely resolved within a particular stakeholder group, but correcting the incentive structure and modifying the relationships between stakeholders is more complex. En route to clinical practice: This article focuses on the scientific difficulties that remain to translate genomics technologies into clinical practice and reviews recent technological advances in genomics and the challenges and potential benefits of translating this knowledge into clinical practice, with a particular focus on their applications in oncology. Keywords: Biomarkers, Bioinformatics, Cancer, Genomics, Next-generation sequencing, Personalized medicine, Economics, Ethics.
The Role of Genetic Information in Personalized Medicine (2013)
Personalized medicine is the latest promise of a gene-centered bio-medicine to provide treatments custom-tailored to the specific needs of patients. Although surrounded by much hype, personalized medicine at present lacks the empirical and theoretical foundations necessary to render it a realistic long-term perspective. In particular, the role of genetic data and the relationship between causal understanding, prediction, prevention, and treatment of a disease need clarifying. This article critically examines the concept of information in genetics and its relation to modern-day genetic determinism, using pharmacogenetics, personalized medicine's core discipline, as a test case. The article concludes that: (1) genetic knowledge does not constitute a privileged basis for personalized medicine because there is an a priori complete causal parity of genetic and nongenetic resources of development; and (2) prediction, prevention, and treatment all depend on a causal-mechanistic understanding that will follow only from integrating data across the whole gamut of developmental factors—genetic and non-genetic. In a future successful personalized medicine, genes will have no special status, either as determinants of phenotype, markers of disease or as targets of treatment.
Personalizing Medicine: Futures Present and Past
Since the 1990s, ‘personalized medicine’ has become a powerful language in which to imagine significant change in medicine from a ‘one size fits all’ model to one that tailors prediction, diagnosis and treatment to the individual. Two decades on, personalized medicine remains a contested vision of the future. Drawing on work in the sociology of expectations, I argue that expectations about genomics to bring about a personalized medicine are ‘prefigured’ by other ways in which knowledge about individual specificity and variability have been at the centre of claims and counterclaims about the future of medicine since the 19th century. Examining how and why medical universalism or a ‘one size fits all’ model of medicine has been contested over time, I conclude by considering the limits of what genomics has to offer for personalizing medicine.