The field of medicine has been transformed by human molecular genetics and genomics, which offer numerous advantages that have made it possible to develop novel treatments, improve patient outcomes, and gain a deeper comprehension of genetic diseases. We now have a better understanding of genetic diseases thanks to advances in human molecular genetics and genomics, which have opened up new avenues for medical research and treatment. Hereditary qualities and genomics have reformed medication over the most recent couple of a long time by assisting us with bettering figure out the natural components behind different sicknesses, hence being especially instrumental in such manner. In this essay, we will look at articles that have been reviewed by experts and show how human molecular genetics and genomics can help medicine. Using these a number of scientific articles that have been reviewed by peers, the purpose of this paper is to investigate the benefits that human molecular genetics has brought to medicine.

The development of personalized medicine is one advantage of human molecular genetics and genomics. This is backed up by an article by Collins (2021) that talks about how the increasing use of genomic technologies has made it possible to develop personalized medicine, which is medicine that is tailored to the genetic makeup of each patient. The authors emphasize how the application of genomic information has resulted in improved patient outcomes, more effective treatments, and a better quality of life for people with genetic diseases. An overview of the most recent developments in human molecular genetics and genomics research can be found in this article. The authors emphasize the significance of large-scale genomic studies that have discovered novel genetic variants linked to disease, as well as the development of novel genomic technologies that make it possible to take medicine in a way that is more specific and tailored to each patient. In addition, the authors emphasize the necessity of maintaining investments in genetics and genomics research, particularly in underrepresented communities, in order to guarantee that these advancements are available to all and equitable.

The capability to identify genetic risk factors for diseases prior to the onset of symptoms is yet another advantage of human molecular genetics and genomics. This is backed up by the article written by Marian, van Rooij, and Roberts (2016), which talks about how the discovery of genetic mutations in certain cardiac diseases has made it possible to diagnose and treat these conditions earlier. The authors talk about how genetic testing has helped develop early interventions and preventative measures, which has improved patient outcomes and cut healthcare costs. The common hereditary cardiomyopathies such as hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) are the focus of this study, which examines the genetic and genomic factors that contribute to single-gene cardiovascular diseases. The authors argue that while genetic mutations can make people more likely to get these diseases, other factors like age, gender, lifestyle, and the environment can also play a role in the disease’s onset and progression. The authors emphasize the significance of continuing research in genetics and genomics to better comprehend the complexity of these diseases and the need for personalized medicine strategies that take into account both environmental and genetic factors.

The ability to learn more about the genetics behind complex diseases is a third advantage of human molecular genetics and genomics. This is backed up by an article by Carver Castéra (2017) that talks about how using genetic data has helped us learn more about the genetics of complex diseases like cancer. The authors talk about how the use of genomic data has made it possible to find new therapeutic targets, make personalized treatments, and make current treatments work better. The article explores the perspectives and convictions of youthful grown-ups towards hereditary qualities and genomics, especially their confidence in hereditary determinism and their insight and mentalities towards present day hereditary qualities and genomics. The creators found that a huge piece of youthful grown-ups held a faith in hereditary determinism, and had one or two doubts about the job of ecological variables in wellbeing results. Besides, the people who had faith in hereditary determinism had not so much information but rather more pessimistic perspectives towards hereditary qualities and genomics research. The authors stress the significance of science communication in combating the belief in genetic determinism and improving public comprehension of genetics and genomics.
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Another article Ganesh ( 2013) emphasizes the significance of genetics and genomics in cardiovascular disease prevention and treatment. According to the authors, genetic information can be used to identify people who are at a high risk for cardiovascular disease and to direct specific preventive measures. For instance, individuals who are at risk of developing cardiovascular diseases at an early age can be identified through genetic testing as having familial hypercholesterolemia, a genetic disorder that results in high cholesterol levels. Drugs that lower cholesterol can be used to treat these people, lowering their risk of developing cardiovascular diseases. The article by Ganesh (2013) discusses the significance of comprehending the genetic and genomic basis of cardiovascular disease (CVD) for the purpose of developing efficient strategies for both prevention and treatment. The authors explain that cardiovascular disease (CVD) is a multifactorial disorder influenced by numerous genetic and environmental factors. Propels in genomic innovation have empowered the ID of explicit hereditary variations related with CVD, which can be utilized to foster customized treatment plans. The article emphasizes the significance of genetic testing in determining who is at risk for cardiovascular disease and directing clinical decision-making. In addition, the authors stress the significance of continuing research in this area in order to expand our comprehension of the genetic basis of cardiovascular disease and develop novel treatments.

One more article by Edwards ( 2015) discusses the advantages of expanding reproductive medicine’s use of carrier screening. A genetic test known as expanded carrier screening can identify individuals who are carriers of genetic mutations that have the potential to transmit serious genetic diseases to their offspring. Couples can make educated decisions regarding their reproductive options, such as in vitro fertilization with pre-implantation genetic testing or prenatal testing, by identifying carriers of these mutations. This can assist with forestalling the introduction of youngsters with serious hereditary sicknesses and diminish the profound and monetary weight on families. The use of expanded carrier screening (ECS) in reproductive medicine is outlined in Edwards (2015)’s joint statement, “Expanded carrier screening in reproductive medicine-points to consider.” The creators contend that customary transporter evaluating for acquired hereditary problems has been restricted to few circumstances, however progresses in genomic innovation have made it conceivable to at the same time evaluate for many circumstances. The ability to identify couples at risk of having affected children and provide them with appropriate counseling and reproductive options is one of the potential advantages highlighted in the article. The creators recognize that ECS raises moral, legitimate, and social issues that should be tended to, for example, the potential for defamation and separation in view of transporter status. The article features the requirement for continuous training and informed agree to guarantee that ECS is utilized in a mindful and moral way.

The advantages of genetics and genomics in the diagnosis and treatment of Parkinson’s disease are highlighted in a sixth article by Lin and Farrer (2014). The creators contend that advances in hereditary qualities and genomics have assisted us with bettering grasp the sub-atomic components behind Parkinson’s illness and to foster designated treatments. For instance, hereditary testing can recognize people with changes in the LRRK2 quality, which are related with an expanded gamble of fostering Parkinson’s sickness. After that, they can participate in clinical trials for LRRK2 inhibitors, which have the potential to halt the disease’s progression. Lin and Farrer’s (2014) article shows an outline of the present status of information with respect to the hereditary and genomic premise of Parkinson’s illness (PD). The creators make sense of that while most of PD cases are irregular, hereditary variables assume a critical part in the improvement of the illness. The article audits the realized hereditary gamble factors for PD, remembering transformations for a few qualities like SNCA, LRRK2, and GBA. In addition, the authors discuss the potential advantages of genetic testing for guiding treatment decisions and identifying people at risk for Parkinson’s disease. The article stresses the requirement for proceeded with research around here to additional comprehension we might interpret the hereditary premise of PD and foster new medicines to forestall or slow the movement of the infection.

All in all, human sub-atomic hereditary qualities and genomics have reformed the field of medication, giving a few benefits that have considered the improvement of new medicines, better quiet results, and a more prominent comprehension of hereditary illnesses. The development of personalized medicine, the capacity to identify genetic risk factors for diseases prior to the onset of symptoms, and insights into the genetic basis of complex diseases are all outcomes of the utilization of genomic technologies. The potential for human molecular genetics and genomics to improve patient outcomes and reduce healthcare costs will only increase as genomic technologies continue to advance. In medicine, human molecular genetics and genomics have numerous advantages, including the ability to identify individuals at risk for disease and develop targeted therapies. Some of these benefits, particularly with regard to Parkinson’s disease, reproductive medicine, and cardiovascular diseases, are shown in the three articles that are the subject of this essay. We can anticipate further advancements in the prevention, diagnosis, and treatment of diseases as genetic and genomic technologies advance.

References:

Genetics and Genomics
Genetics and Genomics of Single-Gene Cardiovascular Diseases: Common Hereditary Cardiomyopathies as Prototypes of Single-Gene Disorders
-Marian, van Rooij, E., & Roberts, R. (2016). Genetics and Genomics of Single-Gene Cardiovascular Diseases: Common Hereditary Cardiomyopathies as Prototypes of Single-Gene Disorders. Journal of the American College of Cardiology, 68(25), 2831–2849.

Young Adults’ Belief in Genetic Determinism, and Knowledge and Attitudes towards Modern Genetics and Genomics: The PUGGS Questionnaire
-Carver, Castéra, J., Gericke, N., Evangelista, N. A. M., & El-Hani, C. N. (2017). Young Adults’ Belief in Genetic Determinism, and Knowledge and Attitudes towards Modern Genetics and Genomics: The PUGGS Questionnaire. PloS One, 12(1), e0169808–e0169808.

Human Molecular Genetics and Genomics — Important Advances and Exciting Possibilities
-Collins, Doudna, J. A., Lander, E. S., & Rotimi, C. N. (2021). Human Molecular Genetics and Genomics — Important Advances and Exciting Possibilities. The New England Journal of Medicine, 384(1), 1–4.

Genetics and Genomics for the Prevention and Treatment of Cardiovascular Disease: Update: A Scientific Statement From the American Heart Association
-Ganesh, Arnett, D. K., Assimes, T. L., Basson, C. T., Chakravarti, A., Ellinor, P. T., Engler, M. B., Goldmuntz, E., Herrington, D. M., Hershberger, R. E., Hong, Y., Johnson, J. A., Kittner, S. J., McDermott, D. A., Meschia, J. F., Mestroni, L., O’Donnell, C. J., Psaty, B. M., Vasan, R. S., … Waldman, S. A. (2013). Genetics and Genomics for the Prevention and Treatment of Cardiovascular Disease: Update: A Scientific Statement From the American Heart Association. Circulation, 128(25), 2813–2851.

Expanded carrier screening in reproductive medicine-points to consider: a joint statement of the American College of Medical Genetics and Genomics, American College of Obstetricians and Gynecologists, National Society of Genetic Counselors, Perinatal Quality Foundation, and Society for Maternal-Fetal Medicine
-Edwards, Feldman, G., Goldberg, J., Gregg, A. R., Norton, M. E., Rose, N. C., Schneider, A., Stoll, K., Wapner, R., & Watson, M. S. (2015). Expanded carrier screening in reproductive medicine-points to consider: a joint statement of the American College of Medical Genetics and Genomics, American College of Obstetricians and Gynecologists, National Society of Genetic Counselors, Perinatal Quality Foundation, and Society for Maternal-Fetal Medicine. Obstetrics and Gynecology (New York. 1953), 125(3), 653–662.

Genetics and genomics of Parkinson’s disease
Lin, & Farrer, M. J. (2014). Genetics and genomics of Parkinson’s disease. Genome Medicine, 6(6), 48–48.