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[Schizophrenia, human genetics and genetic counselling. Human genetic counselling as part of the psychiatric/psychotherapeutic treatment concept].
The human genome project has substantially increased our knowledge about the genetic basis of psychiatric diseases. In daily clinical practice the physician is asked about the diagnosis of genetically dependent diseases with an increased psychiatric risk, particularly schizophrenia group disorders, about the recurrence risk of psychiatric diseases in the relatives and children of the patients, on the use of psychopharmaceuticals during pregnancy and their potential consequences for the offspring, as well as psychopharmacogenetics. These questions will be dealt with in this contribution. At present, they receive too little attention, although genetic counselling might play an important role within the framework of psychiatric treatment, especially for schizophrenia. Such counselling should be seen as a component of the psychiatric/psychotherapeutic treatment concept and performed according to human genetic guidelines.
Genetic counseling.
Genetic counseling is a process of communicating medical aspects about a genetic disorder, especially the information regarding risk of occurrence as recurrence of the disease in the family and preventive options. Accurate diagnosis of the affected member is of paramount importance for genetic counseling. Special genetic investigations like DNA analysis and chromosomal analysis are essential for many cases and especially when prenatal diagnosis is necessary. It is essential for pediatricians to identify cases with genetic disorders or possibly genetic disorders. These cases should be adequately worked up to identify accurate etiology as far as possible. The investigations should be done even if they are not going to make any difference in the outcome of the child. The genetic disorders present not only in neonates, but also in children, stillbirths and fetuses. Hence, autopsy of stillbirth and fetuses terminated after prenatal diagnosis is essential for genetic counseling. The importance of genetic counseling as an integral part of management of genetic disorders has to be realized by all clinicians. Pediatricians with short training can take over the responsibility of providing counseling for common genetic disorders and may need to refer others to genetic centre for counseling and prenatal diagnosis.
[Genetic counselling].
'Genetic counselling is the process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder, the probability of developing and transmitting it and of the ways in which this may be prevented or ameliorated.' The genetic counsellor will discuss the genetic basis and medical facts and also possible personal, familial, social and insurance implications of the respective disorder with the consultand. Further diagnostic investigations, such as genetic tests, may be helpful or necessary for risk predictions or may be required to reach a firm diagnosis. In asymptomatic individuals at risk for a late-onset genetic disorder genetic counselling is obligatory for predictive genetic testing. Genetic counselling also should be offered to symptomatic patients before a diagnostic test is performed. Thereby the patients might become aware in time about the personal, familial and social consequences of the test result that may exceed that of their actual illness. Due to medical confidentiality the geneticist is not allowed to contact other family members and to inform them about a familial disorder and warn them about their own genetic risk. This is the concern of the consultand. Various aspects make up genetic counselling as a specific process which concerns genetic diagnosis, risk estimation and accurate information on medical and genetic facts, but also has a supportive role ensuring that consultands may benefit from given advice and possible preventive measures.
[Genetic counseling and genetic services].
Advances in knowledge about the genetic basis of disease have lead to an increasing demand for and expectation of genetic counselling and genetic services. This presents a new challenge to the health care system, as well as a need for professional education and public dialogue. In this review the current provision of genetic counselling and services is described, especially with the focus on the process of counselling and the persons presenting for counselling. Genetic counselling is seen as an information process and the scenarios for decision-making are discussed. The future development of genetic services should be developed within an ethical framework and the importance of quality assessment is underlined.
Relational ethics and genetic counseling.
Genetic counseling is viewed as a therapeutic interrelationship between genetic counselors and their clients. In a previous relational ethics research project, various themes were identified as key components of relational ethics practice grounded in everyday health situations. In this article the relational ethics approach is further explored in the context of genetic counseling to enhance our understanding of how the counselor-client relationship is contextually developed and maintained. Qualitative interviews were conducted with six adult clients undergoing genetic counseling for predictive testing. Engagement, dialogue and presence were revealed as relevant to genetic counselor-client relationships. A relational ethics approach in genetic counseling challenges the concept of nondirectiveness and may enhance the outcome of counseling for both counselor and client.
[Pediatric neurological disorders and genetic counseling].
Genetic counseling provides medical and genetic information of the disease including its natural history, recurrence risk, availability and usefulness of genetic testing, as well as psycho-social support. In the field of pediatric neurology, the majority of genetic counseling seems to be a simple risk estimation of the next child and unrelated to ethical issues. However, in some cases requiring prenatal diagnosis or presymptomatic testing, we have to address serious ethical issues. Genetic counseling should be provided by an educated medical doctor at a suitable genetics clinic. In Japan, we have "Japanese Board of Medical Genetics, Clinical Geneticist" as an education system of clinical genetics for medical doctors. Pediatric neurologists should know the special issues of genetic information and contact with clinical geneticists in selected cases.
Information, understanding and the benign order of everyday life in genetic counselling.
Genetic counselling as a medical encounter is characterised by the centrality of the provision of information. Much of the counselling session is filled by information delivery about the symptoms, the prognosis and the transmission of the disease, the risks involved and the possibilities for genetic testing. The present paper is a study of how information is delivered in actual genetic counselling sessions. The data consist of 10 video-recorded sessions from a genetics clinic in Finland, and the methodology is based on conversation analysis. The paper focuses on the doctor's talk in a specific interactional context, the slot after a candidate understanding by a client. The analysis shows that the doctors have two basic orientations: they work towards securing correct understanding and they display being attuned to what the information means to the clients, particularly to whether it is positive or negative to them. The latter orientation is related to what has been called 'the benign order of everyday life' (Maynard 2003). The findings in the paper offer a possibility for a discussion about the principles and practices of genetic counselling.
[Place and role of genetic counseling].
Genetic counseling is a medical act that consists of informing a patient of his/her risk of developing a genetic disorder, or of transmitting it to his/her offspring, and of informing about diagnostic and therapeutic options, allowing for informed choices. When about a risk to future offspring, genetic counseling is often linked to prenatal diagnosis with elective termination of affected pregnancies, or, in selected cases, to pre-implantation sorting of embryos ("pre-implantation diagnosis"). In a growing number of indications regarding late-onset hereditary disorders, like Huntington's chorea or some hereditary cancers, genetic counseling aims at optimizing medical prevention, or at allowing patients to make life choices which they deem appropriate. The coming years will witness the blossoming of tests allowing for medical provisions based on the genome ("predictive medicine") in frequent, multigenic disorders, or allowing to target drug therapies to the biochemical individualities of patients (pharmacogenetics). The reliability of predictions will however be limited by the role of environmental and stochastic factors involved in the development of virtually all genetic or biochemical traits.
The social worker's role in genetic counseling.
Genetic counseling is one major aspect of medical practice. It is a recent addition to the medical field that focuses on the etiology of genetic abnormalities.In the past the emphasis of genetic counseling was on determining the etiological diagnosis and on informing the patient of genetic facts and possible medical options. Areas such as the psychological adjustment and resource location for family support virtually were ignored by the majority of genetic counselors.For genetic counseling to be effective, the focus of counseling should be on psychological and social adjustment, with an emphasis on therapy, counseling, education, and liaison services for the patient and family. Social work can provide this expertise.
A general approach to genetic counseling.
Genetic counseling can best be performed if a systematic approach is taken. The geneticist or genetic counselor has the difficult task of conveying complex information to patients in an understandable form. At the same time, this must be done in a nondirective manner, affording the patient the right to make his or her own decisions. Obtaining accurate family and medical history information is crucial to the genetic counseling process. Given the nature of genetic information, multiple sessions may be necessary to ensure that the patient understands the risks involved in his or her particular situation.
Parents' evaluations of genetic counselling.
Genetic counseling represents a new and important health service, but little is known about how the clients of genetic clinics actually experience and view the genetic counseling process. This paper reports on the evaluations made by clients of a genetics clinic and their recommendations for ways to improve and expand this service. In their comments, clients stressed the need for more time and individual attention from genetic counsellors, additional follow-up and supportive counselling, and increased efforts to educate the general public about birth defects. Their recommendations are discussed in terms of the implications for developing and improving genetic counselling services.
Clinical terminology: anxiety and confusion amongst families undergoing genetic counseling.
Genetic counseling is a rapidly expanding, but highly demanding, domain of doctor-patient communication. This paper reports results from an ethnographic study of families (n = 30) attending a genetic counseling clinic in Northern England. We suggest that the language used in this particular specialty is often confusing and misunderstood by the families involved. We found that unfamiliar terms may also conjure up also conjure up alarming images. It is important therefore, that physicians, and in particular geneticists, try to use simple, understandable language, and give clear explanations for unfamiliar terms that cannot be avoided. The careful choice of words, and detailed explanation, not only reduces the risks of "labelling" and stigmatization, but may also prevent the unnecessary anxiety experienced by patients when they hear unfamiliar medical terms, such as the eponyms frequently employed by geneticists when giving a diagnosis.
[Social and family considerations in genetic counselling].
Genetic knowledge can be viewed as an important tool in the prevention of hereditary disease. This article discusses the social issues that the link between genetics and prevention raises in cancer genetic counselling and testing. In particular, the moral dilemmas which health professionals and patients face in relation to disclosing genetic information to kin are described. The authors argue that questions about disclosing information and balancing autonomy and responsibility are not only ethical questions but biopolitical issues.
[Basic principles of genetic counseling].
Genetic counseling and diagnosis are increasingly significant for individual and social life. In view of inherent practical and ethical problems in medical practice, the definition of rules in this field seems necessary. The paper provides a compilation and short argumentation of such rules. They should establish a certain qualitative standard and can serve as a foundation for future discussion.
Hereditary breast/ovarian cancer--pitfalls in genetic counseling.
Genetic counseling and risk assessment, given to women with a family history of breast/ovarian cancer, are regularly based on pedigree analysis. In the Ashkenazi Jewish population, hereditary breast/ovarian cancer is mainly attributed to three founder mutations, namely, 185delAG, 5382insC, and 6174delT, in BRCA1/2 genes. The overall frequency of these mutations, in the Jewish Ashkenazi population, is as high as 2.5%. Based on clinical and family history data, the results of BRCA molecular testing, in Ashkenazi individuals at risk, are appropriately anticipated in most cases. Here we report on five families, in which the segregation of BRCA1/2 mutations, in affected and unaffected family members, was unexpected, emphasizing the need to test, for founder mutations, every Ashkenazi individual at risk, irrespective of the genotype of affected family members. Ultimately, risk assessments and recommendations, in Ashkenazi women, should be invariably based on the results of genetic testing.
Ethical dimensions of genetic counseling.
Genetics is one of the most exciting and most dynamically developing fields of medicine. Genetic counseling has reached the limelight of public attention. Given the fact that the subject of counseling is of momentous consequences and has important effects for the short and long-term, its ethical aspect is paramount. It is crucial that the relevant regulation be designed. The center of the ethical questions is occupied by the treatment of important personal information and the method of its being made public. The way the problems are dealt with is always changing just as society is in a constant process of change. It is important, however, that we always be ready to offer proper help to those in need when they need it.
Genetic counselling and genetic screening for Alzheimer's disease and other dementias.
Genetic and nongenetic factors have been identified to have roles in the etiology of dementia. Etiologic heterogeneity and genetic heterogeneity are recognized, especially for Alzheimer's disease which is the most common form of dementia. Asymptomatic individuals are increasingly requesting genetic services such as genetic counselling, predictive testing and screening for genetic risk factors. This paper provides an overview of the current knowledge about genetic counselling and genetic screening for dementia as well as guidelines for the physician.