[Molecular medicine--personalized medicine. Principles and state-of-the-art].
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Personalized medicine simply means the prescription of specific therapeutics best suited for an individual based on pharmacogenetic and pharmacogenomic information. The basis of personalized medicine are reviewed. Several technologies are used including single nucleotide polymorphism genotyping. haplotyping, gene expression studies by biochip/microarrays and proteomics. Molecular diagnostics will play an important role in the development of personalized medicine, in which therapy and diagnosis will be integrated. There are several examples of the personalized medical approach, which include genotype-based selection of patients for effective cancer therapy, to spare those who would not respond or would suffer undesirable side effects. Personalized therapy is financially feasible, as it will reduce the costs of drug development by shortening the drug development cycle. The introduction of pharmacogenomics into clinical trials is reducing the chances of failed clinical trials and increasing the prospects of safer and more effective therapies for specific groups of patients. Several advantages, as well as challenges to the development of personalized medicine are examined. Personalized medicine is anticipated to be an acceptable part of medical practice by the year 2010.
Personalized medicine simply means the prescription of specific therapeutics best suited for an individual. Personalization of cancer therapies is based on a better understanding of the disease at the molecular level. Nanotechnology will play an important role in this area. Nanobiotechnology is being used to refine discovery of biomarkers, molecular diagnostics, drug discovery and drug delivery, which are important basic components of personalized medicine and are applicable to management of cancer as well. Examples are given of the application of quantum dots, gold nanoparticles, and molecular imaging in diagnostics and combination with therapeutics -- another important feature of personalized medicine. Personalized medicine is beginning to be recognized and is expected to become a part of medical practice within the next decade. Personalized management of cancer, facilitated by nanobiotechnology, is expected to enable early detection of cancer, more effective and less toxic treatment increasing the chances of cure.
Advances in personalized medicine, or the use of an individual's molecular profile to direct the practice of medicine, have been greatly enabled through human genome research. This research is leading to the identification of a range of molecular markers for predisposition testing, disease screening and prognostic assessment, as well as markers used to predict and monitor drug response. Successful personalized medicine research programs will not only require strategies for developing and validating biomarkers, but also coordinating these efforts with drug discovery and clinical development.
Progress toward personalized medicine in the five years following the sequencing of the human genome has been slower than many expected. We focus on two potential factors that might be important in explaining this disappointing progress: the limitations of genetic prediction and the lack of appropriate economic incentives. Clinical application of DNA-based and other biomarkers is likely to succeed only on a case-by-case basis, depending on such factors as information content of the biomarker, accuracy of current assessment methods, and effectiveness of available interventions. Both strong intellectual property and value-based, flexible pricing systems will be important in making personalized medicine a reality.
BACKGROUND: Resilience does not refer to a magical state of invulnerability and the capacity for resilience does not end when one is diagnosed with a prolonged disorder or disease. Despite the enduring legacy of pessimism regarding resilience in the population of people diagnosed with psychiatric disorders, a majority do recover. AIM: The present study seeks to understand how people with psychiatric disorders demonstrate the capacity for resilience in the ways they use or do not use psychiatric medications in their daily lives. METHOD: A qualitative method and participatory action design was used to analyze interviews with 29 people diagnosed with psychiatric disorders. RESULTS: When discussing their use of psychiatric medications, research participants also talked about non-pharmaceutical, personal medicine. Personal medicine was found to be those activities that gave life meaning and purpose, and that served to raise self-esteem, decrease symptoms, and avoid unwanted outcomes such as hospitalization. When psychiatric medications interfered with non-pharmaceutical personal medicine, non-adherence often occurred. CONCLUSION: People with psychiatric disorders demonstrate resilience through the use of non-pharmaceutical, personal medicine in the recovery process. This understanding suggests that medication adherence may be improved when clinicians inquire about patients' personal medicine and use pharmaceuticals to support, rather than interfere with, these self-assessed health resources.
The concept of personalized medicine--that medical care can be tailored to the genomic and molecular profile of the individual--has repercussions that extend far beyond the technology that makes it possible. The adoption of personalized medicine will require changes in healthcare infrastructure, diagnostics and therapeutics business models, reimbursement policy from government and private payers, and a different approach to regulatory oversight. Personalized medicine will shift medical practices upstream from the reactive treatment of disease, to proactive healthcare management including screening, early treatment, and prevention, and will alter the roles of both physician and patient. It will create a greater reliance on electronic medical records and decision support systems in an industry that has a long history of resistance to information technology. Personalized medicine requires a systems approach to implementation. But in a healthcare economy that is highly decentralized and market driven, it is incumbent upon the stakeholders themselves to advocate for a consistent set of policies and legislation that pave the way for the adoption of personalized medicine. To address this need, the Personalized Medicine Coalition (PMC) was formed as a nonprofit umbrella organization of pharmaceutical, biotechnology, diagnostic, and information technology companies, healthcare providers and payers, patient advocacy groups, industry policy organizations, major academic institutions, and government agencies. The PMC provides a structure for achieving consensus positions among these stakeholders on crucial public policy issues, a role which will be vital to translating personalized medicine into widespread clinical practice. In this article, we outline the goals of the PMC, and the strategies it will take to foster communication, debate, and consensus on issues such as genetic discrimination, the reimbursement structures for pharmacogenomic drugs and diagnostics, regulation, physician training and medical school curricula, and public education.
In order for personalized medicine to become a clinical reality a number of hurdles, both technological and regulatory in nature, need to be addressed. Our ability to image biological and pathological processes at a molecular level using positron emission tomography (PET) imaging offers an unparalleled opportunity to radically reform the manner in which a disease is diagnosed and managed. The degree to which current innovations in PET science will translate into clinical practice, thereby impacting upon personalized medicine, is discussed.
The vision of personalized medicine, the practice of medicine where each patient receives the most appropriate medical treatments and the most fitting dosage and combination of drugs based on his or her genetic make-up, seems to become more realistic as our knowledge about the human genome rapidly expands. We already know the reason for many types of adverse drug reactions, which are often related to polymorphic gene alleles of drug metabolizing enzymes. Moreover, insight into reasons for poor drug efficacy, often related to single nucleotide polymorphisms or larger polymorphisms in genes encoding drug target proteins, has been gained. There is a growing need to incorporate this increasingly complex body of knowledge to the standard curriculum of medical schools, so that the forthcoming generation of clinicians and researchers will be familiar with the latest developments in pharmacogenomics and medical bioinformatics, and will be capable of providing patients with the expected benefits of personalized medicine.
INTRODUCTION: The emergence of personalized medicine (PM) has shifted the focus of healthcare from the traditional 'one-size-fits-all' approach to strategies tailored to individual patients, accounting for genetic, environmental, and lifestyle factors. Acoustic ejection mass spectrometry (AEMS) is a novel technology that offers a robust and scalable platform for high-throughput MS readout. AEMS achieves analytical speeds of one sample per second while maintaining high data quality, broad compound coverage, and minimal sample preparation, making it an invaluable tool for PM. AREAS COVERED: This article explores the potential of AEMS in critical PM applications, including therapeutic drug monitoring (TDM), proteomics, metabolomics, and mass spectrometry imaging. AEMS simplifies conventional workflows by minimizing sample preparation, enhancing automation compatibility, and enabling direct analysis of complex biological matrices. EXPERT OPINION: Integrating AEMS with orthogonal separation techniques such as differential mobility spectrometry (DMS) further addresses challenges in isomer discrimination, expanding the platform's analytical capabilities. Additionally, the development of high-throughput data processing tools could further enable AEMS to accelerate the development of personalized medicine.
Several amendments of the examination guidelines for medicinal inventions may be good news for pharmaceutical companies.
Advances in human genome research are opening the door to a new paradigm for practising medicine that promises to transform healthcare. Personalized medicine, the use of marker-assisted diagnosis and targeted therapies derived from an individual's molecular profile, will impact the way drugs are developed and medicine is practiced. Knowledge of the molecular basis of disease will lead to novel target identification, toxicogenomic markers to screen compounds and improved selection of clinical trial patients, which will fundamentally change the pharmaceutical industry. The traditional linear process of drug discovery and development will be replaced by an integrated and heuristic approach. In addition, patient care will be revolutionized through the use of novel molecular predisposition, screening, diagnostic, prognostic, pharmacogenomic and monitoring markers. Although numerous challenges will need to be met to make personalized medicine a reality, with time, this approach will replace the traditional trial-and-error practice of medicine.
This review examines the role of advances in biochip and microarray technologies in the development of personalized medicine. Biochips (eg, GeneChip, CYP450, electrochemical biochips, protein biochips, microfluidic biochips and nanotechnology-based biochips) are assuming an important role in molecular diagnostics, and their application in point-of-care diagnosis is expected to facilitate the development of personalized medicine. Gene expression profiling by microarrays should advance the progress of personalized cancer treatment based on the molecular classification of subtypes. Refinements in biochip miniaturization with the advent of nanotechnology will further contribute to molecular diagnostics and the development of personalized medicine.
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Diagnosis of human disease has been undergoing steady improvement over the past few centuries. Many ailments that were once considered a single entity have been classified into finer categories on the basis of response to therapy (e.g. type I and type II diabetes), inheritance (e.g. familial and non-familial polyposis coli), histology (e.g. small cell and adenocarcinoma of lung) and most recently transcriptional profiling (e.g. leukaemia, lymphoma). The next dimension in this finer categorization appears to be the typing of the patient rather than the disease i.e. disease X in person of type Y. The problem of personalized medicine is to devise tests which predict the type of individual, especially where the type is correlated with response to therapy. Immunology has been at the forefront of personalized medicine for quite a while, even though the term is not often used in this connection. Blood grouping and cross-matching (for blood transfusion), and anaphylaxis test (for penicillin) are just two examples. In this paper I will argue that immunological tests have an important place in the future of personalized medicine. I will describe methods we developed for personalizing vaccines based on MHC allele frequencies in human populations and methods for predicting peptide binding to class I MHC molecules. In conclusion, I will argue that immunological tests, and consequently immunoinformatics, will play a big role in making personalized medicine a reality.
Pharmacoproteomics is the use of proteomic technologies in drug discovery and development. Along with pharmacogenomics and pharmacogenetics, pharmacoproteomics will play an important role in the development of personalized medicines in several ways. Proteomic technologies are contributing to molecular diagnostics, which is a basis of personalized medicine. Pharmacoproteomics is a more functional representation of patient-to-patient variation than that provided by genotyping. Proteomics-based characterization of multifactorial diseases may help to match a particular target-based therapy to a particular marker in a subgroup of patients. Individualized therapy may be based on differential protein expression rather than a genetic polymorphism. Finally, proteomic technologies would enable discovery and development of drugs suitable for personalized therapy. Protein chips will be used increasingly in clinical diagnostics in the next 5 years, particularly in the point-of-care diagnostics. This will facilitate the practice of personalized medicine in the clinic by the end of this decade.
With multiple molecular targeted therapies available for patients with cancer that correspond to a specific genetic alteration, the selection of the best treatment is essential to ensure therapeutic efficacy. Molecular tumor boards (MTBs) play a key role in this process to deliver personalized medicine to patients with cancer in a multidisciplinary manner. Historically, personalized medicine has been offered to patients with advanced cancer, but the incorporation of molecular targeted therapies and immunotherapy into the perioperative setting requires clinicians to understand the role of the MTB. Evidence is accumulating to support feasibility and survival benefit in patients treated with matched therapy.
Personalized medicine - defined as customized medical care for each patient's unique condition - in the broader context of personalized health, will make significant strides forward when a systems approach is implemented to achieve the ultimate in disease phenotyping and to create novel therapeutics that address system-wide molecular perturbations caused by disease processes. Combination drug therapies with individualized optimization are likely to become a major focus. Metabolomics incorporates the most advanced approaches to molecular phenotype system readout and provides the ideal theranostic technology platform for the discovery of biomarker patterns associated with healthy and diseased states, for use in personalized health monitoring programs and for the design of individualized interventions.