6.1. IDENTIFICATION OF DISEASE GENES The isolation of human disease genes has important implications not only for understanding the molecular and cellular basis of the disease but also for prevention and treatment. Cloning the gene responsible for an inherited disease leads to the potential for developing molecular diagnostic tests for mutant alleles of the gene, such as the detection of mutations by PCR. A test can be developed that can identify individuals at risk for the disease and enable appropriate preventive measures. In addition, the ability to detect mutant alleles of disease genes opens the possibility of prenatal diagnosis to prevent transmission of the disease to future generations. Bioinformatics will play an important role in the identification of susceptibility genes as well as in helping provide insight into the molecular pathogenesis of disease, providing an opportunity for the development of targeted therapy (22).
6.2. PERSONALIZED MEDICINE Personalized medicine seeks to understand why the rate of progression for a given disease, and the response to individual drugs, is unique among patients with the same disease (23). A goal of personalized medicine is to treat the patient with the most appropriate therapy. Molecular diagnostics will enter into many aspects of personalized medicine. Early detection of disease, selection of appropriate treatment (i.e., tailored drug therapy), therapeutics, and monitoring of therapy will all be possible by combining genetic and clinical information with bioinformatics (24).
6.3. PHARMACOGENETICS Pharmacogenetics is the study of the influence of genetic factors on the actions of drugs. An individual's response to a drug is the interaction between genetic and nongenetic factors. Genetic variants in the drug itself, disease pathway genes, and drug metabolizing enzymes are predictors of drug efficacy or toxicity (25). Single-nucleotide polymorphism (SNP) genotyping will play a large role in predicting adverse drug reactions among individuals. SNPs are small stretches of DNA with only a 1-base difference and serve to distinguish the genetic material of one person from another (26). There are over 1.4 million SNPs in the human genome, with over 60,000 located in coding regions (27). Many SNPs have already been associated with changes in the metabolism or effects of commonly used drugs and are used in the clinical laboratory as molecular diagnostics (28). SNPs are ideal elements for analysis in the molecular diagnostics laboratory because they help in understanding the genetic basis of human diseases. SNP mapping data from clinical trials can be used to determine a common set of polymorphisms shared by patients who do not respond, or have an adverse reaction to, a particular drug. The detection of SNPs requires the use of bioinformat-ics for cataloging and analyzing information.
6.4. PHARMACOGENOMICS Pharmacogenomics is a discipline that aims to explain the inherited basis for differences in drug response between individuals (28). It is defined as the application of whole-genome technologies for the prediction of the sensitivity or resistance of an individual's disease to drug therapy (29,30). There is great potential for pharmacogenomics to yield important new molecular diagnostics that will become routine clinical laboratory tests, thereby allowing physicians and pharmacists to select drugs for individual patients.
6.5. GENETIC DATABASES Genetic databases are a stored collection of genetic samples in the form of blood or tissue that can be linked with medical, genealogical, or lifestyle information from a specific population, gathered by using a process of generalized consent (31). Iceland is the first country to compile individualized genetic information on distinct populations, but numerous other countries are proposing to do so. The UK Biobank project is proposed to be "the world's biggest study of the role of nature and nurture in health and disease" (http://www.biobank.ac.uk/). UK Biobank will collect DNA samples, medical records, and lifestyle information of 500,000 people between 45 and 69 yr old. It will follow the participants' health status for more than 10 yr. The Biobank will provide researchers chances to correlate genetic traits with common diseases. The aim of genetic databases is to map genes for common diseases to improve the health of the populations involved. The understanding of genetic disease susceptibility will be phenomenal with the kind of information available in these databases. However, the ethical, legal, and social implications need to be considered very carefully before the project is undertaken.
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