What Is The Purpose Of Genetic Counseling – To carry out quality management of genetic counseling, it is important to know exactly what genetic counseling means and who the actors are. The term “genetic counseling” was first defined by Reed in 1947. It is a communication process that deals with genetic facts and psychosocial aspects and is also an educational process. It has always been understood in the context of individual and family problems and has nothing to do with eugenics. In 1975, a special committee of the American Society of Human Genetics published a more detailed explanation. With the development of new diagnostic techniques and methods in human genetics, the requirements of genetic counseling and its content have changed. Today, a genetic counselor must perform diagnostic, predictive, susceptibility, pharmacogenetic, carrier, prenatal, and preimplantation testing as well as genetic screening. The German Human Genetic Examination Act (GenDG) and national and international associations recommend that genetic testing be included in genetic counseling. Based on the author’s experiences, examples of problems in genetic counseling are illustrated, as situations and individual requests are so numerous that quality management seems impossible. Nevertheless, the Quality Commission in Genetic Counseling and Clinical Genetics of the German Professional Association of Human Geneticists started a loop trial in 2018 with a specific counseling status. The task was to write the opinion of human genetics with the help of a checklist containing all the necessary issues. The evaluation was done with the help of a catalog of criteria that was determined in advance and a score appropriate to the individual situation. The first real pilot test was launched in 2020. This shows the possibility of quality management in genetic counseling.

Two years after the end of fascism and its dehumanizing theories of eugenics and euthanasia methods, the American geneticist Sheldon C. Reed (1910-2003) coined the term “genetic counseling” to describe the process of helping families cope with the effects of medical and Psychologist invented genetics. Diseases Later, he noted what the term meant to him: “The term “genetic counseling” occurred to me as an apt description of a process that I thought of as a kind of social work without eugenic connotations. He strongly intended eugenics ( He distinguished the interests of the larger community) and counseling (the interests of individual families).

What Is The Purpose Of Genetic Counseling

What Is The Purpose Of Genetic Counseling

In 1975, a special committee of the American Society of Human Genetics (ASHG) defined the elements of an optimal genetic counseling process:

The Stepwise Process Of Integrating A Genetic Counsellor Into Primary Care

Genetic counseling is a communication process that addresses human problems related to the occurrence or risk of occurrence of a genetic disorder in the family. This process involves the efforts of one or more appropriately trained individuals to assist the individual or family

However, genetic counseling is more than a shared conversation between the doctor and the patient, which is seen in the paternalistic model of the patient-doctor relationship. Furthermore, genetic counseling fits well with the counseling model of this relationship and reflects a personal and familiar situation in its current and anticipated approach. The focus of genetic counseling is not only on the individual, but also on the family. So we have a special relationship between the family and the doctor that is not explained in the previous models. This situation requires special training in the field of communication and psychology and the feeling of intra-couple and intra-family relationships.

Ethical aspects suggest that genetic counseling should be voluntary, non-directive, passive, person- or family-centered, frank, and unbiased.

Over the past 50 years, changes have occurred not only in genetic diagnostic research but also in genetic counseling. There are many new diagnostic methods in cytogenetics and molecular genetics that allow the diagnosis of more genetic diseases not only in childhood but also in adulthood. In the early years, the main question for counselors, mostly a couple, was, “How likely is it that the disease our child will suffer from will come back in the next pregnancy?” This question will definitely be raised today. Today, however, many genes are detectable, and the question people ask is, “Where do I suffer from?” Is it genetic? Is there a cure?” Patients do not always ask if there is a possibility of recurrence for their children or other relatives.

Ethical, Legal And Social Issuses In Pretest Genetic Counseling

Another challenge is the possibility of predicting diseases that develop later in life, such as neurodegenerative diseases such as Alzheimer’s, Parkinson’s, Huntington’s disease or hereditary ataxias. Predictive genetic diagnosis requires a sense of the psychosocial aspects of getting a positive or negative result and the intrapair and intrafamilial dynamics between siblings. Predictive genetic diagnosis also has ethical implications: there are reports of children being exploited by their parents and their husbands by their husbands to see if another child is sick. When siblings do not carry the pathogenic mutation, so-called “survivor guilt” occurs. And what about the dominant inheritance pattern where the healthy son wants to be diagnosed and the healthy father doesn’t because he’s afraid of his father’s illness? Another problem is not only coping with a bad outcome, but also coping with a good outcome from a predictive diagnosis. The author recalls the situation of a young woman who wanted to confirm her belief that she would become ill because she had characteristics of her mother, who suffered from Huntington’s disease. The young woman took over her mother’s role in housekeeping and protected her two brothers. He denied professional competence and participation. However, he did well and had a lot of trouble reorganizing his life.

New fertilization techniques, prenatal methods, tumor genetics and gene therapy require special specialized knowledge of various types of medicine and genetics. So genetic counseling, as Reid explained, is not only social work, but is becoming more and more an educational process. Time is needed to communicate specific cases, and genetic counseling also addresses psychological, psychosocial, ethical, religious, legal, and ethnic aspects. Therefore, genetic counseling is more than talking about the likelihood of recurrence and cannot be done in a routine setting, as the director of a university hospital explained to the author, noting that he can also do genetic counseling—but when to do it. This does not work. All these additional aspects

The German Human Genetic Examination Act (GenDG) determines the patterns and content of genetic counseling (Article 13, Section 3). Genetic counseling should be done in an atmosphere that is understandable to everyone, and the possible medical, psychological and social aspects related to this question should be discussed before deciding whether to perform genetic analysis and receive the result [4]. .

What Is The Purpose Of Genetic Counseling

The German Gendiagnostik-Kommission (GEKO) ensured that the content of genetic counseling would be explained through the guidelines of the German Society of Human Genetics (S2k-Leitlinie der Deutschen Gesellschaft für Humangenetik [GfH]) [5]. GEKO also agrees with the interim committee’s definition and describes common patterns for genetic counseling: information about goals, volume, motivations, and expectations. Genetic counseling should be completely voluntary. Ethical aspects should be considered, lay organizations should be recommended, and relatives should be informed by counselors about a genetic disease in the family and the possibility of genetic counseling.

University Starts New Program In Genetic Counseling

The GEKO guidelines differentiate between diagnostic, predictive and prenatal genetic diagnosis. In case of genetic diagnosis, the counselor must interpret the results of the examination and its consequences for the counselor himself and his relatives. In the case of multifactorial diseases, the consultant should inform about the occurrence, prevention and treatment of the disease. Genetic counseling should deal with genetic and exogenous factors, specificity, sensitivity, predictive value, and positive and false negative results before predictive diagnosis. Before prenatal diagnosis, the content of genetic counseling includes the basic risk, referring to the claim of psychosocial counseling, the importance of the possibility of disease occurrence, information about the examination methods and their validity, possible consequences of prenatal genetic diagnosis and risks. Invasive methods to obtain test materials If the prenatal diagnosis is positive, the consultant should inform the child’s phenotype and prognosis [5].

The aforementioned guideline S2k “Genetic diagnosis and genetic counseling” describes the values ​​and content of genetic counseling more broadly. At the beginning of the genetic counseling process, the patient’s problems should be defined and the counselor should communicate the following goals, value and method. Counselor to provide an output about the disease with all its clinical, genetic and psychosocial aspects, especially indications, probabilities, validity, limitations and alternatives of genetic analysis, to an input (actual history, autoanamnesis, pedigree information letter, previous medical findings) is required. . The counselor should support in individual decision-making (note: personal and religious values, psychosocial situation, ethical and technical limitations) and in dealing with the influence of genetic information. The right to not know and revocation should be emphasized [6].

Genetic counseling is defined by the world

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