What Steps Are Involved In The Genetic Counseling Process – To ensure quality management of genetic counseling, it is important to know what exactly genetic counseling means and who is involved. The term “genetic counseling” was first defined by Reed in 1947. It describes a communication process related to 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 no relation to eugenics. In 1975, the Ad Hoc Committee of the American Society of Human Genetics published a more detailed description. With the development of new diagnostic techniques and methods in human genetics, the requirements for genetic counseling and its content have changed. Today, a genetic counselor must utilize diagnostic, prognostic, pharmacogenetic testing, carrier testing, prenatal and preimplantation testing, and genetic screening. The German Law on Human Genetic Testing (GenDG Act) as well as national and international associations recommend the inclusion of genetic testing in genetic counseling. Based on the author’s experience, some examples of errors in genetic counseling are illustrated, since there are so many individual situations and requests that it seems impossible to carry out quality management. However, the Quality Commission for Genetic Counseling and Clinical Genetics of the Professional Association of German Human Genetics started a pilot study in 2018 with a specific counseling situation. The task was to write a commentary on human genetics using a checklist containing all the necessary questions. The assessment was carried out using a pre-established catalog of criteria and scores adapted to the individual situation. The first real pilot study began in 2020. It opens up the possibility of managing the quality of genetic counseling.

Two years after the fall of fascism and its inhumane theories of eugenics and euthanasia methods, American geneticist Sheldon Reed (1910–2003) coined the term “genetic counseling” to describe the process of helping families cope with the medical and psychological consequences of genetic diseases. diseases. He later noted what the term meant to him: “The term ‘genetic counseling’ came to me as an appropriate description of a process that I considered to be a kind of social work without eugenic overtones” [1]. He sharply distinguished between the goals of eugenics (the interests of society as a whole) and counseling (the interests of individual families).

What Steps Are Involved In The Genetic Counseling Process

What Steps Are Involved In The Genetic Counseling Process

In 1975, the American Society of Human Genetics (ASHG) Ad Hoc Committee defined the elements of an optimal genetic counseling process:

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“Genetic counseling is a communication process that addresses a person’s concerns regarding the occurrence or risk of a genetic disease running in the family. This process involves an attempt by one or more appropriately trained individuals to help an individual or family

However, genetic counseling is more than a simple dialogue between doctor and patient, as seen in the paternalistic model of the patient-doctor relationship. Moreover, genetic counseling fits well with the deliberative model of this relationship and reflects the personal and familiar situation in its current and expected approach. The focus of genetic counseling is not only on the individual, but also on the family. So we have a special relationship between family and physician that was not described in previous diagrams. This situation requires special communicative and psychological preparation and a sense of intra-pair and intra-family relationships.

Ethical considerations imply that genetic counseling should be voluntary, non-directive, participatory, person- or family-centred, frank and impartial.

Over the past 50 years, changes have occurred not only in genetic diagnosis, but also in genetic counseling. In cytogenetics and molecular genetics, many new diagnostic methods have emerged that make it possible to diagnose more genetic diseases not only in childhood, but also in adulthood. In the early years, the main question of those consulted, mainly married couples, was: “How likely is the disease that our child is suffering from to recur in the next pregnancy?” Surely this question will be asked today. However, today many genes are detectable and the question for individuals is: “Why am I suffering? Is it genetic? Is there any radical treatment? Patients do not always ask whether there is a chance of recurrence of the disease in their children or other relatives.

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Another challenge is the ability to anticipate diseases that will develop later in life, such as neurodegenerative diseases such as Alzheimer’s, Parkinson’s, Huntington’s disease or hereditary ataxias. Predictive genetic diagnosis requires an understanding of the psychosocial aspects of positive or negative results, as well as intra-pair, intra-familial and sibling dynamics. Predictive genetic diagnostics also have ethical implications: there are reports of children being exploited by their parents and husbands by their wives to find out whether another child will become ill. Siblings develop so-called “survivor guilt” when they are not carriers of a pathogenic mutation [3]. What about the situation in the case of dominant inheritance, when the healthy son wants to be diagnosed, but the healthy father does not want to because he is afraid of being affected by his father’s disease? Another challenge is to cope not only with a bad result but also with a good result of prognostic diagnosis. The author recalls the situation of a young woman who wanted to confirm her thought that she would become ill because she had some characteristics of her mother, who suffered from Huntington’s disease. The young woman took on the role of mother in running the household and protecting her two brothers. She abstained from professional qualifications and partnerships. However, she got a good result and faced many problems in rebuilding her life.

New methods of fertilization, prenatal methods, tumor genetics and gene therapy require specialized expertise in all types of medicine and genetics. Thus, genetic counseling is not only a social work, as Reed described, but it is increasingly becoming an educational process. Time is needed to discuss specific issues, and genetic counseling also addresses psychological, psychosocial, ethical, religious, legal and ethnic issues. Thus, genetic counseling is more than just talking about the likelihood of relapse, and it cannot be done in normal settings, as the director of a university hospital explained to the author, noting that he can also provide genetic counseling, but he does not have time for it . all these additional aspects.

The German Human Genetic Testing Act (GenDG) defines the procedure and content of genetic counseling (Article 13, Section 3). Genetic counseling should take place in an atmosphere that is understandable to everyone, and possible medical, mental and social aspects related to the issue should be discussed in order to decide whether genetic testing should be performed and the result obtained [4].

What Steps Are Involved In The Genetic Counseling Process

The German Genetics Commission (GEKO) has stated that the content of genetic counseling will be described in accordance with the recommendations of the German Association of Human Genetics (S2k-Leitlinie der Deutschen Gesellschaft für Humangenetik [GfH]) [5]. GEKO also agrees with the definition of the Ad Hoc Committee and describes general models of genetic counseling: information about goals, scope, motivations and expectations. Genetic counseling should be completely voluntary. It is necessary to take into account ethical aspects, recommend public organizations, and those being consulted should inform relatives about a genetic disease in the family and about the possibility of undergoing genetic counseling.

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The GEKO guidelines distinguish between the context of diagnostic, prognostic and prenatal genetic diagnosis. In the case of a genetic diagnosis, the counselor must interpret the results of the study and their consequences for the person being counseled and his relatives. In case of multifactorial diseases, the consultant is obliged to report on the manifestations, prevention and treatment of the disease. Genetic counseling before prognostic diagnosis should consider genetic and exogenous factors, specificity, sensitivity, predictive value, and false-positive and false-negative results. Before prenatal diagnosis, the content of genetic counseling includes the main risk, a hint of the need for psychosocial counseling, the importance of the possibility of the disease, information about research methods and their validity, possible consequences of prenatal genetic diagnosis and risks. invasive methods for obtaining test material. If the prenatal diagnosis is positive, the consultant should report the baby’s phenotype and prognosis [5].

The aforementioned S2k guide, Human Genetic Diagnosis and Genetic Counseling, describes the values ​​and content of genetic counseling in more detail. At the beginning of the genetic counseling process, the patient’s concerns must be identified and the counselor must communicate goals, values, and the next procedure. The consultant needs input (factual history, autohistory, pedigree information, previous medical reports) to provide a conclusion about the disease with all its clinical, genetic and psychosocial aspects, especially the indications, possibilities, reliability, limitations and alternatives of genetic analysis. . The counselor should provide support in making individual decisions (note: individual and religious values, psychosocial situation, ethical and technical limitations) and in coping with the impact of genetic information. The right not to know and to withdraw the decision must be emphasized [6].

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