Imagine one day that your doctor takes a sample of your oral mucosa and tells you a few days later that you have a high chance of developing Alzheimer's disease in thirty years. What would you do? Would you like to start living your life in a state of constant dread? Would you panic every time you experience forgetfulness, always fearing that the claws of dementia will close and turn you into a clumsy mass of drool and diapers, while the fog of forgetfulness takes away the whole world that have you known before? Or would you continue to live your life unchanged, determined to deal with the situation as it evolves in the future? Say no to plagiarism. Get a tailor-made essay on “Why Violent Video Games Should Not Be Banned”? Get an original essay The above scenario may sound like an exercise in science fiction. However, in reality, it is very possible that we find ourselves in a very likely situation, thanks to the immense advances that medicine, particularly genomics, has made in recent years. The next-generation genome sequence has been around for some time, but we are finally close enough to making it available as a clinical diagnostic tool for the masses, ushering in the era of personalized medicine. The human genome as a whole is made up of approximately 3 billion base pairs of DNA encoding approximately 30,000 genes. Until now, outside the research sphere, genetic tests performed in clinical settings only evaluate a single gene or a small panel of genes of interest, usually linked to a particular genetic disease in an individual. However, next-generation sequencing techniques are radically changing this approach. It includes three main approaches, namely whole genome sequencing, whole exome sequencing and targeted sequencing. Whole exome sequencing examines only the protein-coding regions (exons) of a target genome, and targeted sequencing gathers information from a slice of the genome, usually highly relevant to a specific disease. Next-generation sequencing, when performed on a group of genes, classifies them into one of five categories. They are a) probably pathogenic, b) pathogenic, c) unclassified, d) probably benign and e) benign. This helps doctors and scientists determine whether this particular genetic variant will cause the person or their descendants to develop a particular disease. . On the other hand, whole genome sequencing allows us to know the exact position of each nucleotide base pair in a person's genome. By comparing this to other sequenced genomes, we can discover genetic similarities as well as differences between different people. It will also shed light on the mysteries of non-coding segments of the genome. In fact, whole genome sequencing technology is already being used to determine the relationship between an endogenous population and other populations around the world, providing us with important information about the evolutionary history of humanity. The immense amount of information thus obtained through next-generation sequencing techniques gives us an in-depth understanding of the genetic makeup of a particular individual. This directly translates into better diagnostic, prognostic and therapeutic approaches regarding the patient, particularly in light of their family history and their genetic predisposition or resistance to particular diseases. This would allow a doctor to adapt a treatment plan to the specific needs of their patient.The greatest value added by next-generation sequencing, however, is that it allows doctors to discover rare DNA variants that are solely responsible for the presentation of certain rare diseases. This utility has led to astonishing advances in the diagnosis and treatment of many new genetic diseases, reducing both the cost and burden of disease for the individual and society as a whole. Next-generation sequencing has also changed the way we look at cancers, shedding new light on the hereditary aspects and the various genetic and molecular factors involved in the development and progression of various tumors in the body. Examining a person's entire genome also provides us with knowledge about recessive genes that would otherwise remain latent in the person and instead confer carrier status, leading to a potentially fatal manifestation of a disease or illness. 'a syndrome in her. descendants. Whole genome sequencing can also be used to understand the relationships between different genes that lead to the expression of certain phenotypes in a particular person. This would provide a better understanding of the multigenic nature of several diseases such as hypertension or diabetes, and would also help doctors and scientists shed light on the roles that nature and nurture play in the growth and development of a human being. One of the most important roles that next generation sequencing is poised to play in this context is in the field of genetic engineering, where it would allow us to see the different interactions that various genes would have with each other and a gene. modified inserted into the genome. . This in turn would help us create new and improved treatment modalities to combat hereditary diseases such as sickle cell anemia or hemophilia. In recent years, next-generation sequencing technology has moved from the realm of scientific research to become a tool that can be used by doctors around the world to diagnose various diseases in common people. This is largely because the cost of next-generation sequencing has gradually declined from millions of dollars per genome to only about a thousand dollars in a very short period of time, and this cost is expected to fall further in the coming years. come. years. Next-generation sequencing can replace the multitude of single-gene tests currently performed on separate specimens with a single standardized test that must be performed only on a single specimen. This would not only lead to increased efficiency in screening for genetic disorders and correlating them with the patient's family history, but also to developing intervention strategies to alleviate, or even eradicate, certain genetic disorders that plague civilization and society. humanity. Furthermore, the increased accessibility of technology such as next-generation sequencing to the general public means that it can be used in family planning programs, thereby leading to the early diagnosis and prevention of currently incurable genetic diseases. It can also establish itself as one of the reference diagnostic modalities for diagnosing and combating several types of cancers. Having a database of genomes would also help us track how different, ever-changing environmental stressors affect humans at the genetic level, and whether these effects induce better or worse survival capabilities for the human species. Next-generation sequencing technology has finally allowed doctors totreat not the disease, but the patient; and is poised to play one of the most important roles in ushering in the era of truly personalized medicine. Despite all these advantages, however, there are still a number of obstacles to overcome to translate this almost revolutionary technology into clinical practice. One of the biggest challenges is the requirement for expertise. Most next-generation sequencing technologies require complex hardware and software, and therefore also require a team of sophisticated experts well-versed in molecular and computational biology, bioinformatics, bioethics, and medicine to interpret test results with precision. Creating such teams would require changes to existing medical science curricula, in which the future doctor would learn not only medical disciplines, but also the essentials of interpreting high-dimensional data. Second, there is the question of economic burden. Although the cost of accessing next-generation sequencing has decreased significantly in recent years, it is still far from being universally accessible. Other diagnostic tests currently in use can provide fairly accurate data for only a fraction of the current costs of whole genome sequencing, without the need for an expert in medicine and computational biology to interpret the test results. Third, there is the problem of data storage. Each entire genome sequenced generates hundreds of gigabytes of data, the storage of which is practically impossible in the current state of existing health infrastructures. To make this technology an essential part of medical diagnosis and treatment, the entire healthcare infrastructure needs to be upgraded, enabling it to manage and sift through such large amounts of data, preferably via an interconnected set of computing clusters and advanced cloud computing modes. Fourth, there is the problem of too much information. The process of whole genome sequencing tells us the location and status of every nucleotide base pair in a person's genome, including any mutations present. This leads to the problem of misidentification of causative genes, where insignificant mutations are grouped with significant mutations as the cause of a particular disease or syndrome. Keep in mind: this is just a sample. Get a personalized article from our expert writers now. Alternatively, significant causal mutations are often lost in the swirl of incidental findings and non-significant mutations that often occur in genes and have no value in the development of disease. This is particularly a problem in multigenic disorders like diabetes mellitus or cancers, where seemingly important causal mutations often turn out to be false alarms. Additionally, sometimes incidental findings mask much more important findings, even though the risk of the person developing a rarer disease is often much lower than the more common mutations that are overlooked in favor of these incidental findings. Finally, there is the issue of ethics and the general public's mentality regarding the uses and implications of next-generation sequencing techniques. Knowing everything about your genome is not necessarily a good thing, and situations like the one mentioned at the beginning of this essay could become a commonplace reality. The burden of knowing information about illnesses that might not manifest could be a burden than..