the full genome sequencing may revolutionize medical diagnostics through rapid identification of alleles that cause disease (Lupski, et al., 2010). The full genome sequencing opens larger opportunities for diagnosing and treatment of patients. In one of the recent studies (Singer, 2010), genome sequencing was used to reveal the genetic nature of Charcot-Marie-Tooth disorder. Charcot-Marie-Tooth is a disorder that strikes about one in 2,500 people and affects sensory and motor nerves and leads to weaknesses of the foot and leg muscles (Singer, 2010).
In a study conducted by Lupski and other researchers (2010) of a family with Charcot–Marie–Tooth disease, whole-genome sequencing can identify clinically relevant variants and provide diagnostic information to inform the care of patients. The researchers (Lupski, et al., 2010) identified and validated compound, heterozygous, causative alleles in SH3TC2 (the SH3 domain and tetratricopeptide repeats 2 gene), involving two mutations, in the proband and in family members affected by Charcot–Marie–Tooth disease. Separate subclinical phenotypes segregated independently with each of the two mutations; heterozygous mutations confer susceptibility to neuropathy, including the carpal tunnel syndrome (Lupski, et al., 2010). In such a way, the revelation of the genetic cause of Charcot-Marie-Tooth disorder can help health care professionals to elaborate effective approaches to the treatment of the disease. They can focus on the treatment that meet individual requirements of the individual with Charcot-Marie-Tooth disorder depending on the individual’s genetic information retrieved in the course of genome sequencing.
At the same time, genome sequencing can be helpful in the treatment of many diseases, including cancer. Therefore, the further development of genome sequencing can improve the quality of health care services and increase the effectiveness of treatment of patients with serious health problems, such as cancer. In addition, genome sequencing contributes to the reduction in costs and improvement in speed of diagnosing and testing because health care professionals can conduct genome sequencing fast and such testing does not need substantial financial resources, compared to complex testing and diagnosing, which are normally involved in cases of cancer diagnosing, for instance.
Furthermore, genome sequencing can influence treatment decisions for individual patients with cancer. Therefore, health care professionals can avoid stem cell transplantation and elaborate more specific therapy on the ground of genome sequencing. In such a way, they can save costs, minimize risks and threats to the health of patients and to increase the effectiveness of treatment of such serious disease as cancer. However, such use and benefits of the full genome sequencing are not limited to cancer only but the genome sequencing can be applied to other diseases too. Hence, the genome sequencing contributes to the overall improvement of treatment planning
However, even in cases with simple patterns of inheritance and unambiguous diagnoses, the relationship between disease phenotypes and their corresponding genetic changes can be complicated (Lupski, et al., 2010). In fact, individuals may be predisposed to certain diseases but they do not necessarily develop them. Therefore, health care professionals should be very careful while diagnosing health problems with the help of genome sequencing and planning the treatment of patients.
Furthermore, privacy issues arise in case of the genome sequencing because the protection of private information of individuals may be uncovered. The private information of patients should be fully protected and confidential. Otherwise, the genome sequencing can lead to the violation of the privacy right of patients in case of information breaches.
Thus, the genome sequencing has a number of benefits for the contemporary health care because it saves costs, increases the effectiveness of treatment and leads to the overall improvement of the quality of health care services. On the other hand, the full genome sequencing raises the risk of the violation of the privacy right of patients. Therefore, the full genome sequencing is essential for the effective and accurate diagnosing and treatment but health care professionals should respect the confidentiality of patients and prevent information breaches.
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