28 Dec 2022

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Genetic Disorders: Types, Causes, and Treatments

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Over the years, genetic research has been concerned with defining better disease treatment approaches, better disease detecting approaches and better preventive approaches concerning numerous illnesses influencing human health. By definition, genetic research refers to the study of human DNA to identify the characterizing genes and the environmental factors contributing to a given disease (Paterson et. al, 2009). Genetic research suggests that each disease has a genetic component. Consequently, the genetic contribution varies in its percentage; a factor that extent of the disease effects on a body. Moreover, researchers are searching for every disease in order to define the contribution of genetic factors towards the development of a given disease. Genetic disorder refers to a genetic problem resulting from one or more abnormalities formed in the genome (Milunsky, 2015) . A genetic disorder can be a result of a mutation in one gene by mutations from multiple genes or a combination of environmental factors and gene mutations. In addition, it can result from damaged chromosomes, which refers to the alteration of the structure that carries genes. Following an increase in the number of genetic disorders, genetic research has been on the front line to define the cause, treatment and preventive measures that could possibly diminish these genetic disorders. Current genetic research has played a significant role in diminishing genetic orders through identifying causes of some genetic disorders, innovating new treatment approaches and defining preventive measures hence reducing the impact of genetic disorders. Consequently, this manuscript identifies the current tests, history behind genetic disorders, scientific approaches, current technology on genetic research, ethical issues and the medication practices employed towards genetic disorders. 

Genetic disorders in history 

The history of genetic disorders is associated with the existence of Down syndrome, described in 1866 as the most common genetic cause of intellectual disabilities. This era induces a great understanding of genetics and the respective revolution. Furthermore, the research on Down syndrome has greatly inspired the progress of research on human genetics. Consequently, there has been an advancement of the understanding of genetic disorders. In the 1950s, research on genetics identified the cause of the Down syndrome as the trisomy of chromosome 21 (Ts21) 2 . Years of research demonstrated significant progress in the quantitative description of specific traits associated with Down syndrome. The excitement of the research was renewed through the viable Down syndrome mouse models that could integrate the sophisticated human knowledge and mouse genomes presenting informative results (Alwan et al., 2017). 

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Additionally, following the rejuvenation of research strengths, scientists discovered the chromosomes and Down syndrome integration through the definition of the chromosomal trisomy in Down syndrome. In the 1990s, Mendel’s laws were formulated speculating that genes were contained in chromosomes. This created a very strong ground stone for the genetic research on genetic disorders. As a result, the concept of chromosomes containing genes was widely accepted facilitating further research. Theophilus S. Painter, an ancient scientist presented a shred of evidence that has 45 to 48 chromosomes. Based on tissue analysis, Painter supported his analysis with a conclusion that human contains 48 chromosomes. This followed speculation by Charles B. Davenport that chromosomal irregularities could be the result for intellectual disabilities. The research conducted by ancient scientists’ mainly generated different ideas and approaches that motivated further research hence making new innovations and discoveries (Welch et. al, 2007). 

In 1961, a Mosaic Down syndrome was reported following continued research. In all the conducted genetic researches, the main aim involved determining the cause, treatment, and prevention of the intellectual disabilities that were genetically associated. A chimpanzee with clinical features that are suggestive of Down syndrome was described in 1969. As a result, this provided a suitable platform for conducting further research. However, the chimpanzee showed a small acrocentric chromosome trisomy with 22 chromosomes. This analysis facilitated the conclusions concerning the evolution of hominoids and the complexity of genomic changes that present a significant history of genetic research. In 1970, first attempts at genotype-phenotype correlations were made, which facilitated the development of the chromosome banding. In 1973, the first chromosome 21 genes were identified as (IFRC and SOD1). This followed the production of the Ts 16 mice in 1974. A great improvement in genetic research was identified upon mapping the first human chromosome 21 genes to MMU 16 involving (IFRC and SOD1) (Hamosh et. al, 2005)

Furthermore, TS 16 mice were proposed as a Down syndrome model in 1980, which followed the isolation of the first gene from chromosome 21 banding in 1985. However, further research identified a gene causing Alzheimer disease on chromosome 21, which summoned the production of the first viable segmental trisomic mouse model. More genetic research facilitated the completion of sequencing and initial annotation of chromosome 21 in 2000. Additionally, there was a description of the haplotype blocks on chromosome 21 and identification of the expanded transcriptome on the human chromosome. In 2002, the mouse genomic sequence was produced indicating constant efforts on genetic research. 

In the recent past, the research was based on identifying the genetic configuration and different aspects that are related to genetic disorders. Current research has advanced its approaches with the aim of diminishing genetic disorders. The research has been concerned with the definition of the diseases through acquiring genetic information that is necessary for genetic disorders. Causes of genetic disorders are associated with problems caused by chromosomes and genes. Apart from this cause, current research identifies other types of disorders such as inherited disorders, sex-linked disorders and multifactorial disorders that are genetically related. Consequently, current research is concerned with improving the treatment of genetic disorders and prevention of such disorders (Hamosh et. al, 2005)

Current tests 

Current tests on genetic disorders entail application of different techniques which focus on the main objectives of the research; identifying the cause of the genetic disorder. Current genetic testing involves laboratory analysis of human genetic material which includes chromosomes, ribonucleic acid or DNA in order to identify genetic changes. Genetic changes can have different impacts on the body although they are not associated with an individual’s health, they are at times related to genetic diseases. Current tests involve different types of testing. They include newborn screening, diagnostic testing, carrier testing, prenatal testing, preimplantation testing, forensic testing, predictive and presymptomatic testing. The identified genetic testing are purposely conducted with the aim of providing an individual’s genes and chromosomes information. 

A brief definition of the identified tests suggests that newborn screening is employed afterbirth in order to identify genetic disorders that can be treated early in life. Diagnostic testing is employed to identify a specific chromosomal or genetic condition mostly used for confirming a genetic disorder when a particular condition is suspected. Diagnostic testing can be performed at any stage of an individual’s life in order to allow treatment of any identified genetic disorder. Next, carrier testing is employed to identify individuals who carry one copy of a gene mutation, which when present in two copies causes a genetic disorder. This testing is mostly applied to people who have a genetic disorder history in their lineage or ethnic groups. Prenatal testing, on the other hand, is used to detect changes in fetus chromosomes and genes before birth. This test helps in identifying the condition of the pregnancy and whether the baby is subject to any genetic disorder. Preimplantation testing is a special technique that reduces the risk of having a child with a particular chromosomal or genetic disorder. Forensic testing identifies the genetic and chromosomal identity of a person for legal purposes. Predictive testing is employed to detect gene mutations associated with disorders that might appear after birth and later in future life. 

All the identified tests are employed to detect existence or chances of genetic disorders in the unborn, born and living individuals. Current tests employ several genetic testing techniques. They include DNA sequencing, PCR, microarrays, gene expression profiling, and cytogenetics. In order to conduct genetic testing, a sample genetic sample is required from the body. This sample can be body tissue, blood, bone marrow, urine, hair, etc. Once the sample is received in the laboratory, the genetic material is removed from the sample and ready for the test. Although the test is effective for identifying genetic disorders, there are many other disorders, which are not easily identified. However, the current tests have a new gene-sequencing technology being developed in order to facilitate the identification of more genetic disorder. 

Scientists’ role 

Scientists present the biggest percentage of individuals conducting genetic research. Their role and efforts have been motivated by the aim of identifying genetic orders and defining treatment and preventive measures. As identified in genetic history, scientists played a significant role in identifying the cause of the then Down syndrome. Scientists are trying to identify the many genetic disorders that are inducing numerous impacts to the people. Treatment of genetic disorders is a significant step in genetic research. Consequently, scientists are conducting researches on numerous treatment approaches that would help in diminishing the causes and effects of genetic disorders. 

Moreover, scientists are becoming more innovative hence coming up with more improvised genetic testing techniques. For instance, microarrays and gene expression profiling are new genetic testing techniques that were designed by scientists and brought into practice hence functioning effectively in return. More genetic testing approaches are being improvised through deep research on the respective areas by the scientists. Reflecting on the ancient research on genetic disorders as identified in history, scientists could improvise ideas generated by other scientists who published their works. Consequently, through their research, scientists are providing rich content that could facilitate more research on different areas of concern in genetic disorder research (Cohen et. al, 2005)

Additionally, genetic disorders were only associated with chromosomal and genetic composition. However, scientists have identified other causes of genetic disorders including inherited genetic disorders and sex-linked disorders among other causes. Significantly, scientists are in the front line identifying more causes of genetic disorders and the necessary treatment approaches for the genetic disorders (Alwan et al., 2017). 

The most significant approach towards genetic disorders is the identification of preventive measures. Consequently, scientists are conducting genetic researches with aims to identify or even come up with approaches that could prevent the occurrence of genetic disorders despite the identification of the causes. In their approach to defining the preventive measures, scientists have suggested genetic testing methods that have helped in the identification of genetic disorders at an early age. Moreover, scientists have conducted genetic research on the daily practices that could lead to genetic disorders. In order to prevent the occurrence of the disorders, scientists suggest the following approaches. They include checking regularly for the disease, getting regular exercise, following a healthy diet and getting specific genetic testing that is suitable for diagnosis and treatment. In addition, smoking tobacco is identified as one of the causes of genetic disorders. Therefore, individuals are advised to avoid it, especially for expectant women. Furthermore, scientists are still researching on more basic preventive measures in order to diminish genetic disorders. 

Furthermore, scientists are dedicating more resources on genetic research in order to meet the objective of diminishing genetic disorders. Consequently, scientists are funding genetic researches in order to come up with modernized preventive approaches, genetic disorders detecting techniques and more treatment approaches (Baird et. al, 2010) . Towards the objective, scientists establish research institutions that are determined to conduct any practical in the laboratory finding the best methods to diminish the disorder. For instance, the National Human Genome Research Institute is among the research institutes that harbor scientists who in return conduct more genetic research. Furthermore, scientists present useful information that is applicable in the laboratories and in other practices that are relevant to genetic research. 

Current technology 

Technological advancement has been a crucial aspect revolutionizing the normal ways of doing things. Consequently, technology has been integrated into different practices of identification, treatment, and prevention of genetic disorders. More significantly, the technology used has induced a great change in the practices identified above. To begin with, microarray technology, also known as DNA microarray is among the current technologies. This technology has been used to detect between active and inactive genes present in different cells helping researchers to make informed decisions. DNA microarrays are used to determine the expression levels of large numbers of genes and detect genotype multiple regions of a genome. Through microarray, complex illnesses have been identified including cancer. This technology has numerous benefits including aiding the development of new treatment approaches targeted directly to each type of genetic disorder (Degenhardt, 2019)

Epigenetics incorporates a technology that presents epigenetic techniques, which are useful for research based on the science of epigenetics. Through this technology, the research has uncovered the interaction of the environment with certain genes and the respective alteration. By definition, epigenetics is the study of changes in genetic activity that do not involve alterations to the genetic code. Therefore, epigenetic techniques are employed for identifying epigenetic modifications to DNA. These techniques include DNA sequencing, use of chemical approaches and mapping locus-specific differences in DNA modification. 

Genome-wide association studies are among the emerging technologies in genetic research. It plays a significant role through enabling researchers to identify genes involved in human genetic disorder and advice on the best test to identify the genetic disorder. Moreover, it provides a platform that is rich in information, which helps genetic researchers develop better strategies for detecting, treatment, and prevention of the genetic disorder. Moreover, Genome-wide association studies provide genetic variation techniques that help researchers to identify genes that contribute to different genetic disorders. 

Why medication is not enough 

In consideration of the type, symptoms, and causes of genetic disorders, medication is not enough. This is because the medication is only relevant for the treatment of the genetic disorder but in very rare cases the medication will be a preventive or a disorder detector approach. Let us consider the four types of inherited genetic disorders, which include single gene inheritance, multifactorial inheritance, chromosome abnormalities, and mitochondrial inheritance. For these genetic disorders, medication is not enough to treat them. For instance, a heart defect genetic disorder that can only be treated through a surgery or a heart transplant has medication out of the treatment plan. Therefore, in most cases, medication is significant for treatment and management strategies but cannot be depended upon for most of the genetic disorders. 

Furthermore, in consideration of the preventive aspect towards genetic disorders, preventive strategies are required in addition to the medications. Medication can only be applied upon diagnosis of a certain disease but it is not necessary as a preventive measure (Palomo et. al, 2018) . Therefore, this supports the fact that medication is not enough for genetic disorders. In addition, genetic research presents different genetic disorders whose medication is yet to be discovered. For such diseases, medication can only prevent episodes of pain but still, there needs treatment and preventive measures for the identified disorder. 

Moreover, most of the treatment approaches identified in genetic research does not heavily rely on medication. Medication is a treatment approach that is concerned with treating genetic disorders. However, there are no ample medication approaches that have been defined so far. Most of the approaches identified include technologies necessary for testing detecting the diseases and treating the detected diseases (Cohen et. al, 2005) . Most of the genetic disorders identified have surgeries as the main options. For instance, cancer is one of the genetic disorders that have a big percent undergoing surgery. The main objective of genetic research is to diminish genetic disorders and identify preventive measures to avoid the occurrence of the disorders in the future. Therefore, fighting genetic disorder will be enhanced by treatment and preventive measures but not through treatment and management measures presented by medication. 

Ethical issues 

Ethical issues subject individuals into an ethical dilemma since genetic constitution contributes towards the physical appearance including characteristics such as gender, height, and skin color. Information on your respective gene is significant, especially regarding inherited genes. Ethical issues are rampant in genetic testing especially on the predictive testing that predicts future genetic mutation of an individual (Giri et. al, 2018) . Results obtained from genetic testing subject people into an ethical dilemma only through their body complexity. Individuals tend to fear discrimination from the society following genetic testing, discrimination by public health and insurance companies among other worries of genetic disorders. Current practices in genetic testing have raised debates on whether to inform individuals of their genetic complexity or consider ethical obligations. 

Current practices in genetic disorder detection, treatment and prevention have been focusing on ensuring that the available information and technologies focus on improving the life and health of all members of the society without discrimination. This aim is to be ensured without compromising privacy, diversity, and autonomy or people. The main agenda behind this is to avoid cases of discrimination among other ethical issues that affect members of society. 

The current technology is improving the generation of new information about genetic disorders. As a result, clinicians have a great role to play towards ethical obligations through maintaining competence through the evolving genetic science. Each result obtained from a genetic test should follow ample counseling and follow-up to ensure maximum delivery of care necessary for the treatment required. Let us consider a prenatal diagnosis, which shows that a baby will be born with some genetic disorder. This can be very discouraging for the mother nurturing the child. Consequently, the best approach for the ethically related issue is to provide counseling, enhance phenotype screening, lifestyle change and make reproductive decision-making. 

In some cases, individuals tend to suffer discrimination from society and close family. Ethically, genetic exceptionalism is necessary for informed consent (Young et. al, 2019) . Before making an agreement for a genetic test, it is significant for the testing party to ask whether the results can induce different consequences and reactions from society. The results for any genetic tests should be made confidential and be handled with a high level of competence to maintain truth and eliminate confusion. Gynecologist in most cases refers to their patients the genetic tests. Ethically, they should be aware of when to ask for the test and be aware of the following aspects. They need to counsel the patient on any results from the test either positive or negative. Additionally, the results should be presented in light of the patient’s medical and family history and be in a position to offer the necessary help if required. 

How far it has become 

Genetic history presents different approaches employed in identifying the cause of Down syndrome (an early genetic disorder) and the strategies laid down to treat the genetic disorder. In addition, history presents how the research was conducted and different approaches employed with the aim of identifying treatment methods and prevention techniques (Giri et. al, 2018) . Genetic research has gradually developed from the ancient era to a modernized era incorporating numerous activities that are subjected towards improving the detection, treatment, and prevention of genetic disorders. Significantly, genetic research introduced different approaches in the field including genetic testing and treatment methods. However, more genetic testing is being used, the more is more genetic disorders are identified. Although this was among the objectives the genetic research; to detect genetic diseases, there is still the need to treat the detected disorders. 

Current genetic research is characterized by great innovations emanating from the integration of the research system with the current technology that has induced a positive impact. Current genetic research has established research institutions, which have been substantial towards presenting useful information required by scientists and other staffs in the treatment and prevention sector. The current genetic research has introduced new treatment techniques that have resulted in a great performance towards improving treatment and prevention of genetic diseases. This trend presents great progress in genetic research. However, more diseases are detected with limited treatment and prevention approaches being defined (Chen et. al, 2018) . The fact that treatment and preventive measures are limited hastens the genetic research determination to diminish genetic disorders and establish preventive measures for future safety. 

Identification of different categories of genetic diseases is also a huge step in genetic research. In addition, research has identified the cause of every genetic disorder presented in the list and highlights some of the preventive measures to be put into consideration. For instance, multifactorial inheritance disorders including heart disease, high blood pressure, and diabetes are genetic disorders caused by a combination of mutations in multiple genes and environmental factors. Categorizing such diseases as inheritance disorders are among the achievements of genetic research. Furthermore, the research has facilitated the identification of the cause of such a disorder. In addition, a definition of the causes of such diseases facilitates identification of treatment approaches and preventive measures. Therefore, genetic research has gradually improved, detecting genetic disorders, treating them and establishing preventive measures to reduce the impact of genetic disorders. 

Conclusion 

Current genetic research is determined to possibly eradicate the existence of genetic disorders. The main objectives have been detection, treatment, and prevention of genetic disorders. In its role on genetic disorders, genetic research has well detected most of the genetic diseases and the respective causes. In return, preventive measures have also been established. However, in order to completely diminish the genetic disorders, treatment measures need to be defined in conjunction with the best medication in order to ensure that the role is significantly played. The established research institutions are substantial for the current research since it provides the necessary information that needs to be integrated with the existing system of practices and develop a great performance. 

Considering the current genetic disorders and the existing disorders in the society, current genetic research needs to consider advancing its research strategies including improving repositories for research data, improving the quality of generic drugs, define strategies to improve access of genetic medicine and incorporate qualitative research that will provide more significant information. Through the recent history, Current genetic research has played a significant role towards diminishing genetic orders through identifying causes of some genetic disorders, innovating new treatment approaches and defining preventive measures hence reducing the impact of genetic disorders. 

References 

Alwan, A. D., Modell, B., Bittles, A. H., Czeilel, A., & Hamamy, H. (2017).  Community control of genetic and congenital disorders . World Health Organisation. Office for the Eastern Mediterranean. 

Baird, P. A., Anderson, T. W., Newcombe, H. B., & Lowry, R. B. (2010). Genetic disorders in children and young adults: a population study.  American journal of human genetics 42 (5), 677.’ 

Chen, H. F., Chen, S. U., Ma, G. C., Hsieh, S. T., Tsai, H. D., Yang, Y. S., & Chen, M. (2018). Preimplantation genetic diagnosis and screening: current status and future challenges.  Journal of the Formosan Medical Association 117 (2), 94-100. 

Cohen, D., Pichard, N., Tordjman, S., Baumann, C., Burglen, L., Excoffier, E., ... & Héron, D. (2005). Specific genetic disorders and autism: clinical contribution towards their identification.  Journal of autism and developmental disorders 35 (1), 103-116. 

Degenhardt, F. (2019). Genetic testing for psychiatric disorders-where is we heading?  European Neuropsychopharmacology 29 , S763. 

Giri, V. N., Knudsen, K. E., Kelly, W. K., Abida, W., Andriole, G. L., Bangma, C. H., ... & Catalona, W. J. (2018). Role of genetic testing for inherited prostate cancer risk: Philadelphia Prostate Cancer Consensus Conference 2017.  Journal of Clinical Oncology 36 (4), 414. 

Hamosh, A., Scott, A. F., Amberger, J. S., Bocchini, C. A., & McKusick, V. A. (2005). Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders.  Nucleic acids research 33 (suppl_1), D514-D517. 

Milunsky, A., & Milunsky, J. M. (2015).  Genetic disorders and the fetus: diagnosis, prevention, and treatment . John Wiley & Sons. 

Palomo-Ríos, E., Quesada, M. A., Matas, A. J., Pliego-Alfaro, F., & Mercado, J. A. (2018). The History and Current Status of Genetic Transformation in Berry Crops. The Genomes of Rosaceous Berries and Their Wild Relatives  (pp. 139-160). Springer, Cham. 

Paterson, S. J., Brown, J. H., Gsödl, M. K., Johnson, M. H., & Karmiloff-Smith, A. (2009). Cognitive modularity and genetic disorders.  Science 286 (5448), 2355-2358. 

Welch, E. M., Barton, E. R., Zhuo, J., Tomizawa, Y., Friesen, W. J., Trifillis, P., ... & Wilde, R. G. (2007). PTC124 targets genetic disorders caused by nonsense mutations.  Nature 447 (7140), 87. 

Young, A. L., Butow, P. N., Tucker, K. M., Wakefield, C. E., Healey, E., & Williams, R. (2019). Challenges and strategies proposed by genetic health professionals to assist with family communication.  European Journal of Human Genetics , 1. 

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