Trends in Biotechnology
Volume 19, Issue 12, 1 December 2001, Pages 491-496
Journal home page for Trends in Biotechnology

Opinion
Personalized medicine: revolutionizing drug discovery and patient care

https://doi.org/10.1016/S0167-7799(01)01814-5Get rights and content

Abstract

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.

Section snippets

Innovation in pharmaceutical industry R&D strategy

Knowledge of the molecular basis of disease is already transforming pharmaceutical development. Drug discovery and development has traditionally been a linear process (Fig. 1) with little feedback from later clinical development stages on the overall process. The adoption of a personalized medicine strategy in drug discovery and development necessitates a paradigm shift from a linear process to an integrated and heuristic one (Fig. 2). This new approach will involve a series of research

Molecular diagnosis will determine prognosis and therapy

Personalized medicine is rooted in the hypothesis that diseases are heterogeneous, from their causes to rates of progression to their response to drugs. Each person's disease might be unique and therefore that person needs to be treated as an individual. With limited understanding of the molecular basis of disease, we have relied on non-specific clinical signs. As genomic tools are sharpened, so will be our ability to dissect disease into its component parts. Clinical phenotypes thought to be

Innovation in patient care

The ultimate goal of personalized medicine is to define disease at the molecular level so that preventive resources and therapeutic agents can be directed at the right population of people while they are still well (Box 2). The application of new technologies and the integration of data from an individual will lead to a new paradigm in patient care that will emerge from strategies employed in pharmaceutical research and development – a paradigm that will, for the first time, allow physicians to

Personalized medicine: it's happening now

The past few years have seen major advances in technology and the growth of genomic information as a byproduct of the human genome project. As a result, new and innovative markers of disease are being uncovered at an unprecedented rate. At the DNA level, >350 genetic tests are currently available (http://www.genetests.org). Although most tests are for rare, monogenic disorders, some are becoming available for more common, complex diseases. Examples include APOE testing among dementia patients

Challenges of realizing the promise of personalized medicine

In spite of the achievement of a complete human genome sequence, there are numerous challenges in realizing the personalized medicine vision (Box 3). Identifying genetic variants that are markers of disease or drug response requires sifting through several million SNPs in the human genome to find those that contribute to the disease and then demonstrating that the SNPs are clinically valid markers and are useful for managing patients. To uncover DNA variants that predict common, complex

A vision for the practice of medicine in the 21st century

In the next decade, medical care will undergo revolutionary changes. No longer will medical practice be limited to the empirical extrapolation of a patient's care from generalized clinical-trial results. Traditional medical practice, based on trial-and-error, results in both under-treatment and over-treatment, multiple office visits, the need for drug monitoring, and frequent regimen changes. More than 100 000 deaths per year are attributed to adverse drug reactions 26, 27. A personalized

Summary

Personalized medicine promises to offer the right treatment for the right patient at the right time. Although that promise might seem far off, there is clear evidence that the traditional trial-and-error practice of medicine is eroding in favor of more precise marker-assisted diagnosis and treatment. For the patient, the benefits are clear: safer and more effective treatment of disease. For industry there appears an equally desirable outcome of this approach: increased efficiency, productivity

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