| 摘要 |
People vary enormously in their response to disease and also in their response to therapeutic interventions aimed at ameliorating the disease process and progression. However, the provision of medical care and medical management is centered around observations and protocols developed in clinical trials on groups or cohorts of patients. This group data is used to derive a standardised method of treatment which is subsequently applied on an individual basis. There is considerable evidence that a significant factor underlying the individual variability in response to disease, therapy and prognosis lies in a person's genetic make-up. There have been numerous examples relating that polymorphisms within a given gene can alter the functionality of the protein encoded by that gene thus leading to a variable physiological response. In order to bring about the integration of genomics into medical practice and enable design and building of a technology platform which will enable the everyday practice of molecular medicine a way must be invented for the DNA sequence data to be aligned with the identification of genes central to the induction, development, progression and outcome of disease or physiological states of interest. According to the invention, the number of genes and their configurations (mutations and polymorphisms) needed to be identified in order to provide critical clinical information concerning individual prognosis is considerably less than the 100,000 thought to comprise the human genome. The identification of the identity of the core group of genes enables the invention of a design for genetic profiling technologies which comprises of the identification of the core group of genes and their sequence variants required to provide a broad base of clinical prognostic information - 'genostics'. The "GenosticTM" profiling of patients and persons will radically enhance the ability of clinicians, healthcare professionals and other parties to plan and manage healthcare provision and the targeting of appropriate healthcare resources to those deemed most in need. The use of our invention could also lead to a host of new applications for such profiling technologies, such as identification of persons with particular work or environment related risk, selection of applicants for employment, training or specific opportunities or for the enhancing the planning and organisation of health services, education services and social services. |
