Personalized medicine is the future sustainable knowledge for human wellbeing Moiz Bakhiet, MD, PhD, Professor and Chairman Dept. of Molecular Medicine Director of Al-Jawhara Center

The definition and scope of the term personalized medicine varies widely, ranging from the extremely broad to the very narrow. These examples have been selected to demonstrate the range of definitions that have been proposed: • “The use of new methods of molecular analysis to better manage a patient’s disease or predisposition to disease” – Personalized Medicine Coalition   • “Providing the right treatment to the right patient, at the right dose at the right time.” – European Union • “The tailoring of medical treatment to the individual characteristics of each patient.” – USA President’s Council of Advisors on Science and Technology • “Health care that is informed by each person’s unique clinical, genetic, and environmental information.” – American Medical Association • “A form of medicine that uses information about a person’s genes, proteins, and environment to prevent, diagnose, and treat disease.” – National Cancer Institute, NIH

The establishment of the human genome and advances on proteomics has led to a rapidly advancing field of healthcare that is informed by each person's unique clinical, genetic, genomic makeup, and environmental information. These helped scientists and physicians to develop targeted diagnostics and therapeutic approaches to achieve more personalized management by identifying individual susceptibility to disease and response to particular treatment. Thus, personalized medicine can help in: elimination of redundant treatments decreasing side effects of drugs prevention and prediction of disease earlier intervention and reduction of health care costs

Pharmacogenomics Pharmacogenomics (PGx), the study of variations of DNA and RNA characteristics as related to drug response, is one of the most exciting areas of personalized medicine today.   Advances in PGx have opened new possibilities in drug discovery and development. PGx has allowed for more tailored treatment of a wide range of health problems, including cardiovascular disease, cancer, and HIV/AIDS. FDA approved several cancer drugs for use in patients whose tumors have specific genetic characteristics that are identified by a companion diagnostic test. Also, FDA approved a new therapy for use in certain cystic fibrosis, muscular and neuromuscular patients with a specific genetic mutation.

Challenges for Regulating Whole Genome Sequencing High-throughput genomic sequencing technologies are used extensively in research and have started to enter clinical practice.   Analysis: Whole genome sequencing (WGS), in which the entire human genome can be sequenced at a reasonable cost in a reasonable amount of time, is expected to bring transformative public health applications, yet WGS platforms are still evolving rapidly, and there are currently no agreed-upon approaches to analytically assess their performance. Validation: FDA approval or clearance of diagnostic tests generally requires demonstration of their analytical and clinical validity. However, in the case of WGS, sequence-based assays, and extensive gene panels, tests will involve the analysis of many alleles (3 billion base pairs in the case of WGS), so that demonstrating the validity of each and every variant may not be practical, since the significance of most of these variants is currently unknown. In addition, many variants detected by these methods are very rare, so that it is difficult to find enough patients to run a clinical trial to determine whether they are significant.

Towards Bahrain Genome Project: Building on International Experiences

Recommendations First: Second: The need for urgent and necessary launch of the National Genome Project which will contribute to the welfare and development of the society and particularly in the provision of appropriate and effective treatment especially in the early stages of life, in order to avoid the emergence of genetic and complexity diseases later in life.   Second: Providing effective treatment according to genetic makeup to reach positive results for the treatment of patients. Early intervention for treatment through an accurate understanding of the genome of the person and the common diseases in the community will in turn leads to saving time and costs of very expensive therapies. It will also reduce the burden on state budgets through the early detection of disease-related genome.

Third: Fourth: Fifth: Sixth: The development of professional competence in this important specialty. It is necessary to develop national occupational skills capable of building the National Genome Project, and the continuity of the work, and scientifically consolidate these competencies.   Fourth: National Genome Project requires cooperation and coordination between the relevant parties, especially between the official bodies to harmonize regulations and coordination within the National Genome Project. Fifth: Build and enhance the international cooperation with specialized international expertise and research centers, in building and sustaining the national genome project. Sixth: To create effective national participation and development of an integrated plan for awareness and education about the national genome project because of its paramount interest and importance to the health of the individual and society.

Vision   The Personalized medicine program vision is to be a uniquely, innovative and effective educational and research program to serve the health needs of the GCC citizens, and globally contribute to excellence in research and development, clinical services and health education. Mission  The mission of the Personalized Medicine Program is to acquire familiarity with genetic and genomic testing and gain theoretical and practical knowledge of personalized medicine and its role in making the treatment individualized as the disease.

Closing remarks: The era of personalized medicine has clearly arrived and that Personalized Medicine is the future sustainable knowledge for human wellbeing