open access: Future Medicine - Personalized medicine in rare diseases

Personalized medicine in rare diseases

Definition of personalized medicine is not an easy issue [1–3,101]. It is moving from personalized medical practice to the modern concept of personalizing the science of medicine to improve individual healthcare. 

In many aspects personalized medicine refers to the translation of the interaction between the biological individuality of the patient and the environment into clinical medicine and healthcare. By the term personalized medicine we envision a complete integration of clinical (phenotype), genetic, genomic, transcriptomic, proteomic and metabolomic profiles with environmental (including nutritional) information that is provided for a particular person. The major expected consequence is to optimize preventive healthcare strategies and response to drug therapies while people are either healthy or in an early stage of the disease. Personalized medicine tries to move the population-based evidence of medical interventions towards individual evidence of how to treat the specific person based on the biological profile, clinical history and environment. The aim is to offer tailored healthcare to every person. The personalized medicine based on the integration of individual information, from the genome variation, physiology and cellular phenotype to the interaction with the personal environment, may represent a proactive, preventive and prospective model of healthcare [4–6] that is opposite to the more traditional, disease-based, reactive approach to the health status of individuals.

The fundamentals of genomic and personalized medicine and application of new technologies that may define personal biological profiles apply to every type of pathological process, disease or condition, whatever the main organ or tissue is involved in the disorder affecting the person.

abstract: Knowledge engineering for health: A new discipline required to bridge the ‘ICT Gap’ between research and healthcare

Knowledge engineering for health: A new discipline required to bridge the ‘ICT Gap’ between research and healthcare:

Abstract

Despite vast amounts of money and research being channelled towards biomedical research, relatively little impact has been made on routine clinical practice.
At the heart of this failure is the information and communication technology (ICT) 'chasm' that exists between research and healthcare. A new domain of 'knowledge engineering for health' is needed to facilitate knowledge transmission across the research-healthcare gap. This discipline is required to engineer the bi-directional flow of data: research data and knowledge processed to identify clinically relevant advances and delivered into healthcare use; conversely, outcomes from the practice of medicine made suitably available for use by the research community. This system will be able to self-optimise, in that outcomes for patients treated by decisions that were based on the latest research knowledge will be fed back to the research world. A series of meetings, culminating in the 'I-Health 2011' workshop, have brought together interdisciplinary experts to map the challenges and requirements for such as system. Here we describe the main conclusions from these meetings.
An 'I4Health' interdisciplinary network of experts now exists to promote the key aims and objectives, namely “integrating and interpreting information for individualised healthcare”, by developing the 'knowledge engineering for health' domain.