Counselling for predictive testing 2012

Author: A. Tibben
Submitted: Tuesday 26th of June 2012 02:45:43 PM
Submitted by: egf
Language: English
Content type: Learning resource
Educational levels: expert, qc2, qc3

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Abstract

Genetic counselling has been perhaps the most important way of assisting families with a hereditary disease in managing the consequences of the disease, and in helping individuals at-risk to find creative solutions for their problems. The increased awareness of the genetic aspects of a disease, and genetics in general, together with the more widespread availability of genetic centres have contributed to a more appropriate approach for those who ask for assistance in making important life decisions. Clinicians involved with families with a hereditary disease may prefer to refer their patients to a clinical genetics centre to address the genetic questions. The way such questions are dealt with can have a profound impact on the attitude of individuals at risk, their partners and children, and on further relatives. Before the availability of predictive or susceptibility testing, general counselling of the genetics of a hereditary disease was the most important issue that led individuals at risk to visit the genetic counsellor. Currently, people often apply for general genetic counselling when they have only recently first learned of a hereditary disease in their family, although many of them come with the intention to discuss predictive or prenatal testing. Most people seen for genetic counselling regarding a hereditary disease are the asymptomatic children of an affected patient, seeking reassurance for themselves and their (future) children. Sometimes people apply for predictive testing because they have the opinion that a test result might solve their psychological or family problems. Those professionals who have much experience with general counselling and predictive testing know that alternative ways of coping with personal risks and, subsequently, life decisions might be preferable in some cases. Genetic counselling involves a process of consultation by which information is imparted to individuals or families affected by or at risk for a genetic disorder. It includes information on the nature of the disorder; the size and extent of genetic risks; the options, including genetic testing, that may help clarify the risks; the available preventive and therapeutic measures, and the provision of psychological, social and practical support. In the context of genetic testing it may include responding to the concerns of individuals referred and their families, discussing the consequences of a test, and enabling them to choose the optimal decision for themselves, but not determining a particular course of action (American Society of Human Genetics 1975). The definition emphasizes the two-way nature of the interaction between the test candidate and the counsellor. Moreover, counselling is considered as a process, taking place over a period of time. This process allows the assimilation of the potentially distressing information regarding diagnosis, prognosis, risk, emotional reactions, family dynamics etc. The counselling process allows attention for the autonomous decisions taken by the test candidate. The appropriateness of the decisions can be discussed and weighed extensively. This all requires ‘appropriately trained persons’ which implies special knowledge and skills distinct from those needed in other medical and counselling interactions (Platt-Walker 1998). Individuals at risk for HD often come for genetic counselling to discuss aspects of the disorder they find difficult to deal with. Exploring with them their experiences, emotional responses, goals, cultural and religious beliefs, financial and social resources, family and interpersonal dynamics, and coping styles has become an integral part of the counselling process. Many individuals at risk with life long experience with a specific hereditary disease have no full awareness of how the disorder has influenced their psychological makeup. An experienced counsellor must be able to recognize and bring forth these responses. He or she can identify normal and maladjusted responses, reassure candidates that their reactions are normal, prepare them for the near future, new issues and emotions that may come up, and help them to mobilise the resources needed to encourage coping and adjustment. A central assumption of genetic counselling has been the non-directive approach. This assumption is often misunderstood in a way that non-directiveness does not mean that the counsellor should by no means express their personal views, opinions or feelings (Kessler, Kessler et al. 1984; Djurdjinovic 1998). An individual at-risk can expect that the counsellor is willing to provide some guidance when needed to enable him or her to proceed in his own process of consideration. Yet, it requires from the counsellor a level of introspection and awareness of his or her personal feelings and interests in order not to be coercive. The lack of treatment options and future perspectives may facilitate the psychological defences of professional persons such as denial and displacement of responsibility. Families can be threatening to those professionals who have difficulties in working with conditions that cannot be cured. Although the defences protect professionals from the difficult and unsettling task of providing genetic counselling to healthy relatives at risk, they may prevent caregivers from establishing a relationship that is characterised by confidentiality, respect for autonomy and empathy (Martindale 1987). Permanent education and increase in awareness of the psychodynamics involved may lead to creative and constructive thinking about the current deficiencies in care and counselling services provided for families with a hereditary condition. American Society of Human Genetics, A. H. C. o. G. C. (1975). “Genetic counseling.” American Journal of Human Genetics 27: 240-242. Baker, D. L., J. L. Schuette, et al., Eds. (1998). A guide to genetic counseling. New York, Wiley-Liss, Inc Djurdjinovic, L. (1998). Psychosocial counseling. A guide to genetic counseling. D. L. Baker, J. L. Schuette and W. R. Uhlmann. New York, Wiley-Liss: 127-170. Kessler, S., H. Kessler, et al. (1984). “Psychological aspects of genetic counseling. III. Management of guilt and shame.” Am J Med Genet 17(3): 673-97. Martindale, B. (1987). “Huntington's chorea: some psychodynamics seen in those at risk and in the responses of the helping professions.” Br J Psychiatry 150: 319-23. Platt-Walker, A. (1998). The practice of genetic counseling. A guide to genetic counseling. D. L. Baker, J. L. Schuette and W. R. Uhlmann. New York, Wiley-Liss: 1-26.

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A. Tibben . Counselling for predictive testing 2012. EUROGENE portal. June 2012. online: http://eurogene.open.ac.uk/content/counselling-predictive-testing-2012

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