Understanding Genetic Counseling as an Effort to Prevent Heredity
The Human Genome Project (HGP) is a study that has found all sequences of human genomes so that they can be mapped in DNA nucleotide arrangements (Rujito, 2010). The discovery was used in the health sector to reveal the etiology of the disease including hereditary diseases. Hereditary disease occurs because there are abnormal changes in DNA nucleotides or genetic variation. Hereditary disease is a disease inherited from one generation to the next.
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Hereditary diseases in a family are often ignored by most people. The result will be born abnormal births but as carriers of disease (carriers) or sufferers (patients) hereditary disease even cause death. The death rate from infant births increased from 3% to 50% in decades caused by hereditary diseases (Indrasanto, 2008). This illustrates that there is a significant increase and is a matter of concern if it is not dealt with quickly and accurately.
Another impact is the probability of the spread of hereditary diseases that will pass through several generations. In addition, the spread will also reach different families. The spread process can occur through marriage. The disease is inherited directly by one or both parents who suffer from or the occurrence of genetic crosses between two individuals. Marriage causes genetic variation both at the level of chromosomes, genes and DNA. These variations will cause diverse clinical manifestations.
Manifestation of hereditary disease is unavoidable if there is a birth and only clinical management is needed through treatment such as surgery and therapy. However, its manifestations can be prevented in the offspring who will be born. Preventive actions that can be taken are premarital genetic counseling. Premarital genetic counseling provides education about family history, inheritance patterns in children, diagnosis and prognosis, supporting analysis and decision making.
Premarital genetic counseling helps couples, especially in families with hereditary disease prevalence (prevalence> 5%) to conduct an examination of their respective health conditions (Ganie, 2006). This needs to be done before planning a wedding to give birth to offspring. The use of genetic counseling is also expected as an effort to mitigate the prevalence of people with hereditary diseases.
Marriage is a process of forming a family by producing offspring. According to the WHO (World Helath Organization), quality families are harmonious families with healthy physical, psychological, social and spiritual conditions. Preparation before marriage is a supportive thing to create a quality family. One of the stages of preparation is a medical examination for couples and families before the wedding (Pre-marital Medical Check Up).
The community considers that tracing the family health history is not an important preparation and even a taboo that must be done because it can damage family relations. The emotional level in the form of fear of marriage annihilation if a disease is found is also the reason for his taboo. Trust in the fate of a mate gives a strong belief not to do it. In addition, the inspection requires very large funding so that it is avoided in the context of cost efficiency. Therefore, in the social aspect, the level of emisonal, religion and ethics and material are the reasons for not conducting premarital health checks.
Within a few decades, pre-marital examinations were needed. This considers the increasing prevalence of hereditary diseases in the world which even causes death. This examination aims to obtain an overview of family health history and hereditary diseases that have a probability of being passed on to the next generation. After that, management and handling if there are problems can be done as a prevention effort (Napitupulu, 2009).
Hereditary disease is a genetic problem or disorder that is inherited from one generation to the next with complex variations or following Mendel's Law. Buzzle (2014) states that variations in genetic spheres that will cause hereditary diseases are classified into three, single genes, multifactorial and polygenes, and mitochondrial DNA.
Single gene variation means genetic disorders that occur in a single gene. The disorder is caused by a mutation in a single gene. Mutations will cause disease directly to the offspring and can also only be reduced without causing clinical manifestations. Variations that occur consist of 5 types namely autosom dominant, autosom recessive, X-linked dominant, X-linked recessive, and Y-linked. Diseases due to this variation include Hintington, galactosemia, X-linked hypophosphatemia, Ocular albinism, infertile, albino, thalassemia, and hemophilia.
Polygenic and multifactorial occur when genetic factors and non-genetic factors interact with each other such as environment, lifestyle, and habits. The manifestations of this disease include autism, diabetes mellitus, cancer, hyperthyroidism, Alzheimer's disease, Schizophrenia, cerebral palsy, Bipolar disorder, Cleft lip and palate, osteoporosis, cardiovascular disorders, anemia and Parkinson's disease.
Mitochondrial DNA-associated abnormalities can be caused by functional damage to mitochondrial DNA (mtDNA) which is inherited maternally. The manifestations of mtDNA genetic dysfunction are found in several diseases such as Pearson syndrome, Kearns-Sayre syndrome (KSS), Leber hereditary optic neuropathy (LHON), Myoclonic epilepsy and ragged-red fibers (MERRF), Maternally-inherited diabetes and deafness (MIDD), Neuropathy , ataxia, and retinitis pigmentosa (NARP), Chronic progressive external ophthalmoplegia (CPEO), and Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS).
Based on the description above, it is described that hereditary diseases include dangerous diseases and have a very high risk of death in sufferers. Therefore, an effort is needed to prevent or control the manifestations of malignant diseases through genetic counseling. Genetic counseling is done by tracing family health history and pedigree analysis before marriage.
The introduction of the first term genetic counseling by Dr. Sheldon Redd (1947) from the Dight Institute for Human Genetics, University of Minnesota (Ganie, 2005). The National Society of Genetic Counselors (NSGC) defines genetic counseling is a communication process that deals with human health problems related to the incidence or risk of recurrence of genetic diseases in a family (Jessica et al., 2012).
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The main purpose of genetic counseling is to prevent birth defects and have chromosomal disorders (Biesecker, 2001). So far genetic counseling has only been carried out in prenatal, pediatric and adult services through clinical management. No control or prevention efforts have been made to reduce the incidence of hereditary diseases in the future. Therefore, genetic counseling should be done before marriage (premarital).
Pre-marital genetic counseling is targeted so that the offspring produced later are in good condition and quality. This activity is carried out thoroughly towards each partner and his family who have prevalence. Taking into account the ethical, moral, religious, and cultural values of genetic counseling can be carried out optimally.
Genetic counseling has the main goal of hereditary preventive diseases. The service requires the involvement of many parties for the implementation of its services. The interested parties in hereditary preventive efforts are health experts including among them genetic counselors and geneticists, education experts, and the government.
Genetic counselors are those who provide genetic counseling to the community or patients. The counselor will conduct an investigation of a hereditary disease that is at risk in a family. Furthermore, an examination and handling is carried out with the right analysis as a preventive effort, especially for couples who will carry out the marriage. A counselor must possess knowledge about the mechanism of the occurrence of various genetic diseases, selection of examinations needed, prognosis and management as well as predictions of the appearance of the same disease in other family members or subsequent offspring.
The education sector consists of educational institutions and includes scientists. They should strive to develop science, especially in the genetic concept of counseling and handling genetic problems in order to improve people's welfare. Another effort they can do is find solutions to both prevention and treatment of hereditary diseases for the welfare of society.
In this effort, the government also contributed through policies on genetic counseling. The government provides special facilities for users of this service. This aims to make it easier for people to get services without new problems that will arise such as costs. The community is a user of genetic counseling services. They carry out genetic counseling aimed at maintaining health and knowing the health conditions of each and the family especially if you are going to have a marriage. This is important to increase awareness of the emergence of diseases in the next generation.
The steps that must be taken for the implementation of premarital counseling consist of two ways, namely external and internal. An external step is a strategy that is carried out so that couples who will carry out marriage carry out genetic counseling, especially for couples who have a history of hereditary diseases. The strategy is implemented through the provision of information or outreach by interested parties to the community such as through the mass media. The target to be achieved through this step is the community (having the prevalence of hereditary disease) making genetic counseling a necessity before marriage.
An internal step is genetic counseling activities that will be carried out by couples who are going to do a marriage. At this step, each community or patient will follow the stages in the counseling genetic principle, namely diagnosis and prognosis, family education such as pedigree making, supporting examinations and handling including decision making.
Diagnosis is done through an investigation of the health of each partner and his family. Investigations are carried out by tracing hereditary diseases that are found in the family or suffered by family members. Prognosis is done to predict the hereditary disease that will appear in the next couple or offspring.
A correct diagnosis will produce the right prognosis. Prognosis can be done through family education by making pedigree. Through diagnosis and prognosis, a pattern of reduction and distribution is carried out in a clear calculation. The result will be information on hereditary disease in the form of location and time.
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Based on these results, a supporting examination was carried out to strengthen statements about hereditary diseases. The examination can be genetic testing. Furthermore, information processing has been carried out in order to determine the options for handling based on the risk analyzed.
Also read : Typical and Beautiful Matting of Arborek Village
Hereditary diseases in a family are often ignored by most people. The result will be born abnormal births but as carriers of disease (carriers) or sufferers (patients) hereditary disease even cause death. The death rate from infant births increased from 3% to 50% in decades caused by hereditary diseases (Indrasanto, 2008). This illustrates that there is a significant increase and is a matter of concern if it is not dealt with quickly and accurately.
Another impact is the probability of the spread of hereditary diseases that will pass through several generations. In addition, the spread will also reach different families. The spread process can occur through marriage. The disease is inherited directly by one or both parents who suffer from or the occurrence of genetic crosses between two individuals. Marriage causes genetic variation both at the level of chromosomes, genes and DNA. These variations will cause diverse clinical manifestations.
Manifestation of hereditary disease is unavoidable if there is a birth and only clinical management is needed through treatment such as surgery and therapy. However, its manifestations can be prevented in the offspring who will be born. Preventive actions that can be taken are premarital genetic counseling. Premarital genetic counseling provides education about family history, inheritance patterns in children, diagnosis and prognosis, supporting analysis and decision making.
Premarital genetic counseling helps couples, especially in families with hereditary disease prevalence (prevalence> 5%) to conduct an examination of their respective health conditions (Ganie, 2006). This needs to be done before planning a wedding to give birth to offspring. The use of genetic counseling is also expected as an effort to mitigate the prevalence of people with hereditary diseases.
Marriage is a process of forming a family by producing offspring. According to the WHO (World Helath Organization), quality families are harmonious families with healthy physical, psychological, social and spiritual conditions. Preparation before marriage is a supportive thing to create a quality family. One of the stages of preparation is a medical examination for couples and families before the wedding (Pre-marital Medical Check Up).
The community considers that tracing the family health history is not an important preparation and even a taboo that must be done because it can damage family relations. The emotional level in the form of fear of marriage annihilation if a disease is found is also the reason for his taboo. Trust in the fate of a mate gives a strong belief not to do it. In addition, the inspection requires very large funding so that it is avoided in the context of cost efficiency. Therefore, in the social aspect, the level of emisonal, religion and ethics and material are the reasons for not conducting premarital health checks.
Within a few decades, pre-marital examinations were needed. This considers the increasing prevalence of hereditary diseases in the world which even causes death. This examination aims to obtain an overview of family health history and hereditary diseases that have a probability of being passed on to the next generation. After that, management and handling if there are problems can be done as a prevention effort (Napitupulu, 2009).
Hereditary disease is a genetic problem or disorder that is inherited from one generation to the next with complex variations or following Mendel's Law. Buzzle (2014) states that variations in genetic spheres that will cause hereditary diseases are classified into three, single genes, multifactorial and polygenes, and mitochondrial DNA.
Single gene variation means genetic disorders that occur in a single gene. The disorder is caused by a mutation in a single gene. Mutations will cause disease directly to the offspring and can also only be reduced without causing clinical manifestations. Variations that occur consist of 5 types namely autosom dominant, autosom recessive, X-linked dominant, X-linked recessive, and Y-linked. Diseases due to this variation include Hintington, galactosemia, X-linked hypophosphatemia, Ocular albinism, infertile, albino, thalassemia, and hemophilia.
Polygenic and multifactorial occur when genetic factors and non-genetic factors interact with each other such as environment, lifestyle, and habits. The manifestations of this disease include autism, diabetes mellitus, cancer, hyperthyroidism, Alzheimer's disease, Schizophrenia, cerebral palsy, Bipolar disorder, Cleft lip and palate, osteoporosis, cardiovascular disorders, anemia and Parkinson's disease.
Mitochondrial DNA-associated abnormalities can be caused by functional damage to mitochondrial DNA (mtDNA) which is inherited maternally. The manifestations of mtDNA genetic dysfunction are found in several diseases such as Pearson syndrome, Kearns-Sayre syndrome (KSS), Leber hereditary optic neuropathy (LHON), Myoclonic epilepsy and ragged-red fibers (MERRF), Maternally-inherited diabetes and deafness (MIDD), Neuropathy , ataxia, and retinitis pigmentosa (NARP), Chronic progressive external ophthalmoplegia (CPEO), and Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS).
Based on the description above, it is described that hereditary diseases include dangerous diseases and have a very high risk of death in sufferers. Therefore, an effort is needed to prevent or control the manifestations of malignant diseases through genetic counseling. Genetic counseling is done by tracing family health history and pedigree analysis before marriage.
The introduction of the first term genetic counseling by Dr. Sheldon Redd (1947) from the Dight Institute for Human Genetics, University of Minnesota (Ganie, 2005). The National Society of Genetic Counselors (NSGC) defines genetic counseling is a communication process that deals with human health problems related to the incidence or risk of recurrence of genetic diseases in a family (Jessica et al., 2012).
Also Read : Gempol Pleret, Typical Fresh Drinks of Jepara
The main purpose of genetic counseling is to prevent birth defects and have chromosomal disorders (Biesecker, 2001). So far genetic counseling has only been carried out in prenatal, pediatric and adult services through clinical management. No control or prevention efforts have been made to reduce the incidence of hereditary diseases in the future. Therefore, genetic counseling should be done before marriage (premarital).
Pre-marital genetic counseling is targeted so that the offspring produced later are in good condition and quality. This activity is carried out thoroughly towards each partner and his family who have prevalence. Taking into account the ethical, moral, religious, and cultural values of genetic counseling can be carried out optimally.
Genetic counseling has the main goal of hereditary preventive diseases. The service requires the involvement of many parties for the implementation of its services. The interested parties in hereditary preventive efforts are health experts including among them genetic counselors and geneticists, education experts, and the government.
Genetic counselors are those who provide genetic counseling to the community or patients. The counselor will conduct an investigation of a hereditary disease that is at risk in a family. Furthermore, an examination and handling is carried out with the right analysis as a preventive effort, especially for couples who will carry out the marriage. A counselor must possess knowledge about the mechanism of the occurrence of various genetic diseases, selection of examinations needed, prognosis and management as well as predictions of the appearance of the same disease in other family members or subsequent offspring.
The education sector consists of educational institutions and includes scientists. They should strive to develop science, especially in the genetic concept of counseling and handling genetic problems in order to improve people's welfare. Another effort they can do is find solutions to both prevention and treatment of hereditary diseases for the welfare of society.
In this effort, the government also contributed through policies on genetic counseling. The government provides special facilities for users of this service. This aims to make it easier for people to get services without new problems that will arise such as costs. The community is a user of genetic counseling services. They carry out genetic counseling aimed at maintaining health and knowing the health conditions of each and the family especially if you are going to have a marriage. This is important to increase awareness of the emergence of diseases in the next generation.
The steps that must be taken for the implementation of premarital counseling consist of two ways, namely external and internal. An external step is a strategy that is carried out so that couples who will carry out marriage carry out genetic counseling, especially for couples who have a history of hereditary diseases. The strategy is implemented through the provision of information or outreach by interested parties to the community such as through the mass media. The target to be achieved through this step is the community (having the prevalence of hereditary disease) making genetic counseling a necessity before marriage.
An internal step is genetic counseling activities that will be carried out by couples who are going to do a marriage. At this step, each community or patient will follow the stages in the counseling genetic principle, namely diagnosis and prognosis, family education such as pedigree making, supporting examinations and handling including decision making.
Diagnosis is done through an investigation of the health of each partner and his family. Investigations are carried out by tracing hereditary diseases that are found in the family or suffered by family members. Prognosis is done to predict the hereditary disease that will appear in the next couple or offspring.
A correct diagnosis will produce the right prognosis. Prognosis can be done through family education by making pedigree. Through diagnosis and prognosis, a pattern of reduction and distribution is carried out in a clear calculation. The result will be information on hereditary disease in the form of location and time.
Also Read : Temenggung Mask Dance A Symbol of Knighthood with authority
Based on these results, a supporting examination was carried out to strengthen statements about hereditary diseases. The examination can be genetic testing. Furthermore, information processing has been carried out in order to determine the options for handling based on the risk analyzed.
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