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Bioinformatics and Healthcare

In the future of medicine, there exists a universal bioinformatics-based healthcare system in which physicians are knowledgeable in computer science technology and patient records (for example, genomes and proteomes) are stored on huge online data warehouses. Bioinformatics, more specifically translational bioinformatics, is the missing link between futuristic healthcare and modern computational technology [4]. With these electronic databases for individuals, doctors and other healthcare specialists may work more closely with pharmaceutical companies and researchers in not only detecting and curing genetic disorders but also creating personalized medicine.

bioinf1Most importantly, this type of healthcare system leads to one of the holy grails of healthcare – personalized medicine [2,3,7]. Due to a quicker and faster understanding of individual genetic information, physician-scientists can work better with nearby pharmaceutical companies to create drugs and other forms of biomedical medication to aid individual patients.

Essentially, the process of individual genome sequencing and analysis will become relatively low-cost and quick in the future [1]. By then, our understanding of the human genome and its corresponding proteome will increase tremendously as well (alongside our technological advancements). Of course, the genomic analysis will require computational methods and programs due to the enormity and complexity of the human genome. All of the data storage as well as genomic analysis and comparisons would be made possible using either government-mandated or privately-controlled online databases (with private genomic information secured as this would be as important as one’s social security). As genes govern our daily life, genomic medicine is definitely the way of the future and bioinformatics is the answer to our understanding and analysis of genomic healthcare [5].

By harnessing the power of computational biology and genetic information, doctors can detect malignant irregularities in a patient’s genome and run this information against other universally available databases of disorders to gauge whether or not the patient is at risk for a genetic disorder or cancer. This provides an extremely early detection of cancer or other congenital disorders that may affect a patient later on in his/her life and, coupled with future advancements in drug discovery or genetic treatment, patients can be treated earlier.

For example, a patient is born with a congenital cerebral Arteriovenous malformation (AVM) which is often undetected at birth due to its rarity and size. The child’s genome is sequenced and analyzed in about a day for ten dollars (futuristically) and the physician discovers (through genomic comparison which showed that the SMAD4 gene has a mutation that is common in patients with cerebral AVM) that the child has a malformation in his/her cerebellum which can be treated for in its early stages – the most ideal time to treat AVMs.

Of course with the rise in translational bioinformatics come legal disputes over ethics (bioethics), privacy, property rights, social security, etc [6]. These I will be discussing in the future.

If you have any questions feel free to comment or contact me directly.

[1] Bonetta L (2006). Genome sequencing in the fast lane. Nature. 3:141-147.

[2] Fernald GH, Capriotti E, Daneshjou R, Karczewski KJ, Altman RB (2011). Bioinformatics challenges for personalized medicine. Bioinformatics. 27(13):1741-1748.

[3] Khandekar PS (n.d.). Role of Bioinformatics in Medical Informatics A Case Study: Tuberculosis. Guest Lecture.

[4] Lopez-Alonso V, Mayer MA, Shublaq N (2012). Bridging the Gap between Bioinformatics and Medical Informatics. 24th International Conference of the European Federation for Medical Informatics.

[5] Maojo V & Kulikowski CA (2003). Bioinformatics and Medical Informatics: Collaborations on the Road to Genomic Medicine?. Journal of the American Medical Informatics Association. 10:515-22.

[6] Sethi P (2009). Translational Bioinformatics and Healthcare Informatics: Computational and Ethnical Challenges. Perspectives in Health Information Management. 6(Fall).

[7] Wang X & Liotta L (2011). Clinical bioinformatics: a new emerging science. Journal of Clinical Bioinformatics. 1:1.

External Sites
American Medical Informatics Association is the major organization for translational bioinformatics (in the US).

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