Shegelman Essay #2 (PWS)

Shegelman Essay #2 (PWS) - Dmitriy Shegelman Bionb 4270...

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Dmitriy Shegelman Bionb 4270 – Essay #2 First Draft 9/20/2010 Essay #2a – Personal Genomics The issue of the emerging science known as personal genomics, and its possible applications for clinical medicine, has been a popular issue of discourse due to the emerging potential scenarios that were previously unimaginable. This new science deals with on an unprecedented scale of with the individual molecules that make up our genetic code and the likelihood that they will cause us to be sick result in disease . Early warning systems for cancer, heart disease, and other useful diagnostic information could not exist without a price, however, with the opposing argument wielding claims of inaccuracy in testing and difficult ethical questions concerning the novel situations personal genomic knowledge may cause. With strong and yet conflicting opinions driving each side of the debate, the maximum potential implications of this new field in an everyday, clinical environment are yet to be experienced. At this point, the technology is exciting to talk about, but stumbles upon its own infancy when considered as a diagnostic tool. The early adopters of this pioneering field of diagnosing disease using gene sequencing tout their rare successes as proof that it is totally sound. For example, “ Cathy,” a previous cancer patient who was successfully treated, is posed as the introduction to an article on personal genomics, as if to establish its validity before the details of the procedure are fully
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understood (Feero et. Al al , 2010). In fact, the patient could receive entirely inconclusive test results, or worse yet, false positive results. According to Dr. Aquadro, a previous guest lecturer, “Genome-wide assays have not lead to the discovery of the genetic basis of the diseases in humans,” and those these assays, “Only explain a small portion of the genetic risks (Aquadro, 2010).” The claims of inaccurate sequencing, as well as a lack of agreement on the correct method for interpretation, are echoed throughout the clinical community. According to the estimates of some doctors, even an accuracy of 99.9999% replication , would yield about 6000 errors per individual genome sequenced (Feero et. Al al , 2010). Taking into account that current personal genome sequencing is achieving approximately 95-96% accuracy, the technique leaves much to be desired by the physician that must ultimately make the decision
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This note was uploaded on 01/26/2011 for the course BIONB 4270 at Cornell.

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Shegelman Essay #2 (PWS) - Dmitriy Shegelman Bionb 4270...

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