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  1. 1. Dr. Tanveer Abbas
  2. 2. Learning Objectives After reading this chapter the reader should be able to: • Define Bioinformatics and how it interfaces with Medical Informatics • State the importance of Bioinformatics in future medical treatment • Describe the Human Genome project and its many important implications • List private and governmental bioinformatics databases • Describe the application of Bioinformatics in genetic profiling of individuals and large populations
  3. 3. Definition of Bioinformatics • “the field of science in which biology, computer science and information technology merge to form a single discipline”
  4. 4. What is Bioinformatics • Bioinformatics is the application of computer technology to the management of biological information. • Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied to gene-based drug discovery and development.
  5. 5. Other Bioinformatics Terms There are other bioinformatics terms worth defining: • Genomics: the field that analyzes genetic material from a species • Proteomics: the study of gene expression at the level of proteins. Proteomics is the large-scale study of proteins, particularly their structures and functions. • Pharmacogenomics: the study of genetic material to look for drug targets
  6. 6. Uses of Bioinformatics Besides diagnosing the 3000-4000 hereditary diseases that exist today, bioinformatics may be helpful in the following areas: • Protein research to discover more targets for future drugs • Pharmacogenomics to personalize drugs based on genetic profiles • Complete genetic profiles will lead to better preventive medicine tests • Gene therapy to treat diseases such as cancer. The most common way to achieve this is to use genetically altered viruses that carry human DNA.
  7. 7. Uses of Bioinformatics… • Microbial genome alterations for energy production (bio- fuels), environmental cleanup, industrial processing and waste reduction • Genetically engineered drought and disease resistant plants • In spite of these interesting areas, it is estimated that less than 0.01% of microbes have been cultured and characterized.
  8. 8. Future of Bioinformatics At least three trends are appearing with regards to bioinformatics: 1) integrating genomic information with electronic health records 2) personal genetic services 3) population-based genetic data.
  9. 9. Future of Bioinformatics… 1) Integration with electronic health records: • The patient’s genetic profile will be one more data field in the electronic health record. • Recently, gene variants have been identified for diabetes, Crohn’s disease, rheumatoid arthritis, bipolar disorder, coronary artery disease and multiple other diseases. • Kaiser-Permanente has created the Research Program on Genes, Environment and Health.
  10. 10. 1) Integration with electronic health records … • In the first phase, 2 million members will be surveyed to determine their medical history, exercise and eating habits. • The second phase will require the voluntary submission of genetic material • To our knowledge, no electronic health record collects this information and uses it for clinical decision support. • Data standards have been developed so family history can be part of EHRs and PHRs
  11. 11. 1) Integration with electronic health records … • There is a new government sponsored free tool available for the public to upload their family history using the newest data standards. • In this way, the results can be saved as a XML file and shared by EHRs and PHRs. • My Family Health Portrait is available for English or Spanish speaking patients, is easy to use but does not store any patient information on the site. • Instead, patients can store the XML file on their personal computers
  12. 12. 2) Personal Genetics • Patients will want to know their own genetic profile • Companies such as Celera Genomics will take advantage of the genomics project to offer genetic mapping services and pharmacogenomics. • DNA Direct is another company that offers online genetic testing and counseling. • They do offer both patient and physician education and have staff genetic counselors
  13. 13. 3) Population Studies • Oracle Corporation will partner with the government of Thailand to develop a database to store medical and genetic records. • This initiative was undertaken to offer individualized “tailor made” medications and to offer bio-surveillance for future outbreaks of infectious diseases such as avian influenza • Artificial intelligence will be used to search medical records for terms such as asthma and smoking.
  14. 14. Genetic Prediction Obstacles • The disease you are interested in is common. Even with common breast cancer, when you evaluate 7 established genetic variants, they only explain about 5% of the risk for the cancer. If the disease (example Crohn’s disease) is rare, then the test must be highly predictive • In order for genetic testing to be relevant you should have an effective treatment to offer, otherwise there is little benefit • The test must be cost effective, as many currently are too expensive. As an example,screening for sensitivity to the blood thinner warfarin (Coumadin) makes little sense at this time due to cost
  15. 15. Key Points • Bioinformatics will introduce a treasure trove of genetic information into the field of medicine • At this point Bioinformatics seems like a field remote from medicine, but that will change with pharmacogenomics and personal genetic profiles • Many organizations worldwide are beginning to collect and collate genetic • information