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Psicologia, Saúde & Doenças

versión impresa ISSN 1645-0086

Psic., Saúde & Doenças v.6 n.1 Lisboa jul. 2005

 

Aspectos Psicossociais da Medicina Preditiva:

Revisão da Literatura sobre Testes de Riscos Genéticos

José A. Zagalo-Cardoso & Luísa Rolim*

Faculdade de Psicologia e de Ciências da Educação, Universidade de Coimbra, Portugal

 

RESUMO: Este artigo visa rever e reflectir sobre as questões psicológicas subjacentes aos testes genéticos, no contexto do novo paradigma médico da medicina preditiva e da emergente perspectiva da genética psicossocial.

As implicações psicológicas inerentes à prática de testes genéticos para doenças de início na idade adulta requerem particular atenção e uma abordagem multidisciplinar sistemática, incluindo a avaliação e a intervenção psicológicas, a fim de minimizar o impacto emocional do diagnóstico pré-sintomático.

É prestada particular atenção ao diagnóstico precoce pré-sintomático de três condições neurogenéticas - a polineuropatia amiloidótica familiar, a doença de Huntington e a doença de Machado-Joseph - e ao diagnóstico de susceptibilidade genética para os cancros hereditários.

Com base na revisão da literatura sobre investigação comportamental, abordamos alguns preditores da tomada de decisão e da adesão face aos testes genéticos, assim como as implicações psicológicas dos resultados destes últimos. Salientamos temas emergentes e focamos algumas linhas de investigação em desenvolvimento.

Palavras chave: Adesão, Cancros hereditários, Diagnóstico de susceptibilidade genética, Diagnóstico pré-sintomático, Doenças neurogenéticas, Genética psicossocial, Impacto psicológico, Medicina preditiva, Reacções psicológicas.

 

Psychosocial Aspects of Predictive Medicine:

A Review of Literature about Genetic Risk Tests

ABSTRACT: This paper aims to review and reflect about psychosocial issues concerning genetic tests, in the context of the new medical paradigm of Predictive Medicine and the emerging perspective of Psychosocial Genetics.

Psychosocial implications underlying the practice of genetic tests for late onset diseases require a special attention and a systematic multidisciplinary approach, including psychosocial evaluation and intervention, in order to minimize the emotional impact of pre-symptomatic diagnosis.

We pay a very special attention to early pre-symptomatic diagnosis of three neurogenetic conditions - familial amyloid polineuropathy, Huntington disease and Machado-Joseph disease - and to the diagnosis of genetic susceptibility to hereditary cancers.

Based on a review of literature about behavioral investigation, we identify some predictors of decision-making and of adherence to genetic tests, as well as the psychological implications of the results of these tests. We emphasize emerging themes and focus on some developing investigation guidelines.

Key words: Adherence, Diagnosis of genetic susceptibility, Hereditary cancers, Neurogenetic diseases, Pre-symptomatic diagnosis, Predictive Medicine, Psychologic impact, Psychosocial Genetics.

 

Texto completo disponível apenas em PDF.

Full text only available in PDF format.

 

REFERÊNCIAS

Ajzen, I. (1985). From intentions to actions: A theory of planned behavior. In J. Kuhl & J. Beckmann (Eds.), Action-control: From cognition to behavior (pp. 11-39). Heilderg, Germany: Springer.         [ Links ]

Aktan-Collan, K. (2001). Predictive genetic-testing and counselling for hereditary non-polyposis colorectal cancer (HNPCC). A prospective follow-up study of acceptance and psychosocial consequences. Academic dissertation, Medical Faculty of the University of Helsinki, Finland.

Appleton, S., Fry, A., Rees, G., Rush, R., & Cull, A. (2000). Psychosocial effects of living with an increased risk of breast cancer: An exploratory study using telephone focus groups. Psycho-Oncology, 9, 511-521.

Beck, A.T., Emery, G., & Greenberg, R.L. (1985). Anxiety disorders and phobias: A cognitive perspective. New York: Basic Books.

Beck, A.T., Rush, A.J., Shaw, B.F., & Emery, G. (1979). Cognitive therapy of depression. New York: Guilford.

Bird, T. (1999). Risks and benefits of DNA testing for neurogenetic disorders. Seminars in Neurology, 19(3), 253-259.

Bloch, M., Fahy, M., Fox, S., & Hayden, M.R. (1989). Predictive testing for Huntington disease: II. demographic characteristics, life-style patterns, attitudes, and psychosocial assessments of the first fifty-one test candidates. American Journal of Medical Genetics, 32, 217-224.

Bloch, M., Shelin, A., Wiggins, S., Huggins, M., & Hayden, M.R. (1992). Predictive testing for Huntington disease in Canada: The experience of those receiving an increased risk. American Journal of Medical Genetics, 42, 499-507.

Boutté, M. (1987). The stumbling disease: A case study of stigma among azoreanportuguese. Social Science & Medicine, 24, 3, 209-217.

Boutté, M. (1990). Waiting for the family legacy: The experience of being at risk for Machado-Joseph disease. Social Science & Medicine, 30 (8), 839-847.

Codori, A.M. & Brandt, J. (1994). Psychological costs and benefits of predictive testing for Huntington's disease. American Journal of Medical Genetics, 54, 174-184.

Coelho, T. (1996). A experiência do aconselhamento genético na polineuropatia amiloidótica familiar. In J. Sequeiros (Ed.), O teste preditivo da doença de Machado-Joseph (pp. 71-77). Porto: UnIGENe, IBMC.

Collins, F. S., & McKusick, V. A. (2001). Implications of the Human Genome Project for Medical Science. JAMA, 285(5), 540-544.

Craufurd, D., Dodge, A., Kerzin-Storrar, L., & Harris, R. (1989). Uptake of presymptomatic predictive testing for Huntington's disease. Lancet, 2, 603-605.

Codori, A.M., Peterson, G.M., Miglioretti, D.L., Larkin. E.K., Bushey, M.T., Young, C., Brensinger, J.D., Johnson, K., Bacon, J.A., & Booker, S.V. (1999). Attitudes toward colon cancer gene testing: Factors predicting test uptake. Cancer Epidemiology, Biomarkers & Prevention, 8, 345-351.

Croyle, R.T., Dutson, D.S., Tran, V.T., & Sun, Y.C. (1995). Need for certainty and interest in genetic testing. Womens Health, 1, 329-339.

Croyle, R.T., & Lerman, C. (1993). Interest in genetic testing for colon cancer susceptibility: Cognitive and emotional correlates. Preventive Medicine, 22, 284-292.

Croyle, R.T., & Lerman, C. (1999). Risk communication in genetic testing for cancer susceptibility. Journal of the National Cancer Institute Monographs, 25, 59-66.

Croyle, R.T., Smith, K.R., Botkin, J.R., Baty, B., & Nash, J. (1997). Psychological responses to BRCA1 mutation testing: Preliminary findings. Health Psychology, 16, 63-72. <

Decruyenaere, M., Evers-Kiebooms, G., Boogaerts, A., Cassiman, J.J., Cloostermans, T., Demyttenaere, K., Dom, R., & Fryns, J.P. (1999). Psychological functioning before predictive testing for Huntington's disease: The role of the parental disease, risk perception, and subjective proximity of the disease. Journal of Medical Genetics, 36, 897-905.

Decruyenaere, M., Evers-Kiebooms, G., Boogaerts, A., Cloostermans, T., Cassiman, J.-J., Demyttenaere, K., Dom, R., Fryns, J.-P. & van den Berghe, H. (1997). Non-participation in predictive testing for Huntington's disease: Individual decision-making, personality and avoidant behaviour in the family. European Journal of Human Genetics, 5, 351-363.

Decruyenaere, M., Evers-Kiebooms, G., & van den Berghe, H. (1993). Perception of predictive testing for Huntington's disease by young women: Preferring uncertainty to certainty. Journal of Medical Genetics, 30, 557-561.

Decruyenaere, M., Evers-Kieboms, G., Welkenhuysen, M., Denayer, L., & Claes, E. (2000). Cognitive representations of breast cancer, emotional distress and preventive health behaviour: A theoretical perspective. Psycho-Oncology, 9, 528-536.

Dorval, M., Patenaude, A.F., Schneider, K.A., Kieffer, S.A., DiGianni, L., Kalkbrenner, K.J., Bromberg, J.I., Basili, L.A., Calzone, K., Stopfer, J., Weber, B.L., & Garber, J.E. (2000). Anticipated versus actual emotional reactions to disclosure of results of genetic tests for cancer susceptibility: Findings from p53 and BRCA1 testing programs. Journal of Clinical Oncology, 18, 2135-2142.

Dudok de Wit, A.C. (1997). To know or not to know: The psychological implications of presymptomatic DNA testing for autosomal dominant inheritable late onset disorders. PhD Thesis, Erasmus University of Rotterdam.

Dudok de Wit, A.C., Tibben, A., Duivenvoorden, H.J., Niermeijer, M.F., Passchier, J., Trijsburg, R.W., & Rotterdam/Leiden Genetics Workgroup (1998). Distress in individuals facing predictive DNA testing for autosomal dominant late-onset disorders: Comparing questionnaire results with in-depth interviews. American Journal of Medical Genetics, 75, 62-74.

Evans, D.G.R., Maher, E.R., Macleod, R., Davies, D.R., & Craufurd, D. (1997). Uptake of genetic testing for cancer predisposition. Journal of Medical Genetics, 34, 746-748.

Evans, J.P., Skrzynia, C., & Burke, W. (2001). The complexities of predictive genetic testing. British Medical Journal, 322, 1052-1056.

Evers-Kiebooms, G. (1989). Predictive testing in Huntington's disease. In E.H. Sikkens, B.S.W. et al. (Eds.), Psychosocial Aspects of Genetic Counselling (pp. 105-118). The Netherlands, Groningen: Globe.

Evers-Kiebooms, G., Cassiman, J.J., & van den Berghe, H. (1987). Attitudes towards predictiv testing in Huntington's disease: a recent survey in Belgium. Journal of Medical Genetics, 24, 275-279.

Evers-Kiebooms, G., & Decruyenaere, M. (1998). Predictive testing for Huntington's disease: A challenge for persons at risk and for professionals. Patient Education Counseling, 35, 15-26.

Evers-Kiebooms, G., Swerts, A., Cassiman, J.J., & van den Berghe, H. (1989). The motivation of at-risk individuals and their partners in deciding for or against predictive testing for Huntington disease. Clinical Genetics, 35, 29-40.

Evers-Kiebooms, G., Welkenhuysen, M., Claes, E., Decruyenaere, M., & Denayer, L. (2000). The psychological complexity of predictive testing for late onset neurogenetic diseases and hereditary cancers: Implications for multidisciplinary counselling and for genetic education. Social Science & Medicine, 51, 831-841.

Farrer, L. A. (1986). Suicide and attempted suicide in Huntington disease: Implications for preclinical testing of persons at risk. American Journal of Medical Genetics, 24, 305-311.

Fleming, M. (1996). Intervenção psicológica na crise: A Experiência com a paramiloidose. In J. Sequeiros (Ed.), O teste preditivo da doença de Machado-Joseph (pp. 65-70). Porto: UnIGENe, IBMC.

Fleming, M., Lêdo, S., Rocha, J.C., & Sequeiros, J. (2004). Impacto psicológico do teste pré-sintomático na doença de Machado-Joseph. Resultados preliminares. Arquivos de Medicina, 18(1/2), 72-75.

Fleming, M., & Lopes, A. (2000). Saber ou não saber: Dinâmica e impasses psicológicos na doença genética. Revista Portuguesa de Psicossomática, 2(1), 33-40.

Fox, S., Bloch, M., Fahy, M., & Hayden, M.R. (1989). Predictive testing for Huntington disease: I. Description of a pilot project in British Columbia. American Journal of Medical Genetics, 32, 211-216.

Frank, T.S., & Skolnick, M.H. (1999). Testing for hereditary cancer risk: Pandora or Prometheus? The Journal of Clinical Endocrinology & Metabolism, 84(6), 1882-1885.

GeneWatch UK (2002). Genetics and "predictive medicine": Selling pills, ignoring causes. Briefing 18, May.

Gill, M., & Richards, T. (1998). Meeting the challenge of genetic advance. British Medical Journal, 316, 570.

Harrison, J.A., Mullen, P.D., & Green, L.W. (1992). A meta-analysis of studies of the Health Belief Model with adults. Health Education Research: Theory & Practice, 7(1), 107-116.

Harper, P.S. (1993). Psychosocial genetics: an emerging scientific discipline (Editorial). Journal of Medical Genetics, 30(7), 537.

Harper, P.S., Lim, C., & Craufurd, D., on behalf of the UK Huntington's Disease Prediction Consortium (2000). Ten years of presymptomatic testing for Huntington's disease: The experience of the UK Huntington's Disease Prediction Consortium. Journal of Medical Genetics, 37, 567-571.

Hayden, M.R., Hewitt, J., Wasmuth, J.J., Kastelein, J.J., Langlois, S., Conneally, M., Haines, J., Smith, B., Hilbert, C., & Allard, D. (1988). A Polymorphic DNA Marker That Represents a Conserved Expressed Sequence in the Region of the Huntington Disease Gene. American Journal of Human Genetics, 42, 125-131.

Holtzman, N.A., & Shapiro, D. (1998). Genetic testing and public policy. British Medical Journal, 316, 852-856.

Holtzman, N.A., & Marteau, T.M. (2000). Will Genetics Revolutionize Medicine? The New England Journal of Medicine, 343(2), 141-144.

Huggins, M., Bloch, M., Kanani, S., Quarrell, O. W. J., Theilman, J., Hedrick, A., Dickens, B., Lynch, A., & Hayden, M. (1990). Ethical and legal dilemmas arising during predictive testing for adult-onset disease: The experience of Huntington disease. American Journal of Human Genetics, 47, 4-12.

Huggins, M., Bloch, M., Wiggins, S., Adam, S., Suchowersky, O., Trew, M., et al. (1992). Predictive testing for Huntington disease in Canada: Adverse effects and unexpected results in those receiving a decreased risk. American Journal of Human Genetics, 42, 508-515.

Jacopini, G.A., D'Amico, R., Frontali, M., & Vivona, G. (1992). Attitudes of persons at risk and their partners toward predictive testing. In G. Evers-Kiebooms, J.P. Fryns, J.J. Cassiman & H. van den Berghe (Eds.), Psychosocial Aspects of Genetic Counseling (pp. 113-117). New York: Wiley-Liss.

Janis, I., & Mann, L. (1977). Decision-making: A psychological analysis of conflict, choice and commitment. New York: Free Press.

Julian-Reynier, C., Sobol, H., Sévilla, C., Nogués, C., Bourret, P., & The French Cancer Genetic Network (2000). Uptake of hereditary breast/ovarian cancer genetic testing in a French national sample of BRCA1 families. Psycho-Oncology, 9, 504-510.

Katapodi, M.C., Lee, K.A., Facione, N.C., & Dodd, M.J. (2004). Predictors of perceived breast cancer risk and breast cancer screening: A meta-analytic review. Preventive Medicine, 38, 388-402.

Keller, M., Jost, R., Kadmon, M., Wüllenweber, H.-P., Haunstetter, C.M., Willeke, F., Jung, C., Gebert, J., Sutter, C., Herfarth, C., & Büchler, M.W. (2004). Acceptance of and attitude toward genetic testing for hereditary nonpolyposis colorectal cancer: A comparison of participants and nonparticipants in genetic counseling. Diseases of the Colon & Rectum, 47(2), 153-162.

Kelly, K., Leventhal, H., Andrykowski, M., Toppmeyer, D., Much, J., & Dermody, J. (2004). The decision to test in women receiving genetic counseling for BRCA1 and BRCA2 mutations. Journal of Genetic Counseling, 13(3), 237-257.

Kessler, S. (1994). Predictive testing for Huntington's disease: A psychologist's view. American Journal of Medical Genetics (Neuropsychiatric Genetics), 54, 161-166.

Kessler, S., & Bloch (1989). Social system responses to Huntington disease. Family Process, 28(1), 59-68.

Kessler, S., Field, T., Worth, L., & Mosbarger, H. (1987). Attitudes of persons at risk for Huntington disease toward predictive testing. American Journal of Medical Genetics, 26, 259-270.

Koji, A., & Itoyama, Y. (1997). Psychological consequences of genetic testing for spinocerebellar ataxia in the Japanese. European Journal of Neurology, 4(6), 593-600.

Lazarus, R., & Folkman, S. (1984). Stress, Appraisal and Superação. New York: Springer.

Lerman, C., Hughes, C., Trock, B.J., Myers, R.E., Main, D., Bonney, A., Abbaszadegan, M.R., Harty, A.E., Franklin, B.A., Lynch, J.F., & Lynch, H.T. (1999). Genetic testing in families with hereditary nonpolyposis colon cancer. Journal of the American Medical Association, 281, 1618-1622.

Lerman, C., Croyle, R.T., Tercyak, K.P., & Hamann, H. (2002). Genetic testing: Psychological aspects and implications. Journal of Consulting and Clinical Psychology, 70(3), 784-797.

Lerman, C., Narod, S., Schulman, K., Hughes, C., Gomez-Caminero, A., Bonney, G., Gold, K., Trock, B., Main, D., Lynch, J., Fulmore, C., Snyder, C., Lemon, S.J., Conway, T., Tonin, P., Lenoir, G., & Lynch, H. (1996). BRCA1 testing in families with hereditary breast-ovarian cancer: A prospective study of patient decision-making and outcomes. Journal of American Medical Association, 275, 1885-1892.

Lerman, C., Schwartz, M.D., Narod, S., Lin, T.H., Hughes, C., & Lynch, H.T. (1997). The influence of psychological distress on use of genetic testing for cancer risk. Journal of Consulting and Clinical Psychology, 65, 414-420.

Liese, B.S., & Larson, M.W. (1995). Superação with life-threatening illness: A cognitive therapy perspective. Journal of Cognitive Psychotherapy: An International Quarterly, 9(1), 19-34.

Lipkus, I.M., Iden, D., Terrenoire, J., & Feaganes, J.R. (1999). Relationships among breast cancer concern, risk perceptions, and interest in genetic testing for breast cancer susceptibility among African-American women with and without a family history of breast cancer. Cancer Epidemiology, Biomarkers & Prevention, 8, 533-539.

Lima, M., Kay, T., Vasconcelos, J., Mota-Vieira, L., Gonzalez, C., Peixoto, A., Abade, A., MacLeod, P., Graça, R., & Santos, J. (2001). Disease knowledge and attitudes toward predictive testing and pre-natal diagnosis in families with Machado-Joseph disease from the Azores islands (Portugal). Community Genetics, 4, 36-42.

Lippman, A., & Frazer, F. C. (1979). Genetic counseling: Parents' responses to uncertainty. Birth Defects: Original Articles Series, 5, 325-339.

Lopes, A., & Fleming, M. (1996). Doença somática e organização psíquica: Reflexões a partir da polineuropatia amiloidótica familiar (P.A.F.). Revista Portuguesa de Psicanálise, 15, 93-100.

Lopes, A., & Fleming, M. (1998). Aspectos psicológicos da polineuropatia amiloidótica familiar: A trama subterrânea intergeracional. Brotéria Genética, XIX (XCIV), 183-192.

Lynch, H.T., Lemon, S.J., Durham, C., Tinley, S.T., Connoly, C., Lynch, J.F., Surdam, J., Orinion, E., Slominski-Caster, S., Watson, P., Lerman, C., Tonin, P., Lenoir, G., Serova, O., & Narod, S. (1997). A descriptive study of BRCA1 testing and reactions to disclosure of test results. Cancer, 79, 2219-2228.

Lynch, H.T., Watson, P., Conway, T.A., Lynch, J.F., Slominski-Caster, S.M., Narod, S.A., Feunteun, J., & Lenoir, G. (1993). DNA screening for breast/ovarian cancer susceptibility based on linked markers. A family study. Archives of Internal Medicine, 153, 1979-1987.

Maat-Kievit, A., Vegter-van der Vlis, M., Zoeteweij, Losekoot, M., van Haeringen, A., & Roos, R. (2000). Paradox of a better test for Huntington's disease. Journal of Neurology, Neurosurgery and Psychiatry, 69, 579-583.

Markel, D.S., Young, A.B., & Penney, J.B. (1987). At-risk persons' attitudes toward presymptomatic and prenatal testing of Huntington disease in Michigan. American Journal of Medical Genetics, 26, 295-305.

Marteau, T.M., & Croyle, R.T. (1998). Psychological responses to genetic testing. British Medical Journal, 316, 693-696.

Marteau, T.M., & Lerman, C. (2001). Genetic risk and behavioural change. British Medical Journal, 322, 1056-1059.

Marteau, T., & Richards, M. (1996). The troubled helix: Social and psychological implications of the new human genetics. Cambridge: University Press.

Mastromauro, C., Myers, R.H., & Berkman, B. (1987). Attitudes toward pre-symptomatic testing in Huntington disease. American Journal of Medical Genetics, 26, 271-282.

Meiser, B., & Dunn, S. (2000). Psychological impact of genetic testing for Huntington's disease: An update of the literature. Journal of Neurology, Neurosurgery and Psychiatry, 69, 574-578.

Meissen, G.J., & Berchek, R.L. (1987). Intended use of predictive testing by those at risk for Huntington disease. American Journal of Medical Genetics, 26, 83-293.

Meissen, G.J., Myers, R.H., Mastromauro, C.A., Koroshetz, M.S.W., Klinger, K.W., et al. (1988). Predictive testing for Huntington's disease with use of a linked DNA marker. The New England Journal of Medicine, 318, 9, 535-542.

McAllister, M. (2002). Predictive genetic testing and beyond: A theory of engagement. Journal of Health Psychology, 7(5), 491-508.

Nordin, K., Lidén, A., Hansson, M., Rosenquist, R., & Berglund, G. (2002). Superação style, psychological distress, risk perception, and satisfaction in subjects attending genetic counselling for hereditary cancer. Journal of Medical Genetics, 39, 689-694.

Paterson, R.J. & Neufeld, R.W.J. (1989). The stress response and parameters of stressful situations. In R.W.J. Neufeld (Ed.), Advances in the investigation of psychological stress (pp. 742). New York: John Wiley & Sons.

Paúl, M.C. (1996). Reacções esperadas aos resultados do teste preditivo: A experiência dos programas da doença de Huntington. In J. Sequeiros (Ed.), O teste preditivo da doença de Machado-Joseph (pp. 79-94). Porto: UnIGENe, IBMC.

Paúl, M.C. (1997). Genética psicossocial: O estudo das atitudes face à realização do teste preditivo da doença de Machado-Joseph. Psicologia: Teoria, Investigação e Prática, 2(2), 241-250.

Paúl, M.C., Martín, I., Silva, M.R., Silva, M., Coutinho, P., & Sequeiros, J. (1999). Living with Machado-Joseph disease in a small rural community of the Tagus valley. Community Genetics, 2, 190-195.

Paúl, M.C., Martín, I., & Sequeiros, J. (2000). Construção de uma escala de atitudes face ao casamento e aos filhos para estudo da adesão ao teste preditivo de doenças genéticas. In J. Ribeiro, I. Leal & M. Dias (Eds.), Actas do 3º Congresso Nacional de Psicologia da Saúde (pp. 165-171). Lisboa: I.S.P.A..

Quaid, K.A., & Morris, M. (1993). Reluctance to undergo predictive testing: The case of Huntington disease. American Journal of Medical Genetics, 45, 41-45.

Rolim, L. (2000). Psicologia clínica na doença de Machado-Joseph: Estudo de instrumentos de avaliação, no contexto do teste preditivo. Tese de Mestrado não publicada, Faculdade de Psicologia e de Ciências da Educação, Universidade de Coimbra.

Rosenstock, I.M. (1974). The Health Belief Model and preventive health behavior. Health Education Monograph, 2, 354-386.

Sales-Luís, M.L., Conceição, I., & Carvalho, M. (2003). Clinical and therapeutic implications of presymptomatic gene testing for familial amiloidotic polyneuropathy (FAP). Amyloid: Journal of Protein Folding Disorders, 10(Suppl. I), 26-31.

Sequeiros, J. (1986). Genetic counseling in hereditary amyloid neuropathy type I (Portuguese, Andrade). In M.L. Sales Luís, L. Bigotte de Almeida, & Pinho e Costa (Eds.), Symposium on Peripheral Neuropathies and Satellite Symposium on Familial Amyloid Polyneuropathy (pp. 265-271). Lisboa.

Sequeiros, J. (1989). Análise genética da variação fenotípica na doença de Machado-Joseph. Dissertação de Doutoramento não publicada. Instituto de Ciências Biomédicas de Abel Salazar, Universidade do Porto.

Sequeiros, J. (1998). Prenatal diagnosis of late-onset diseases. Progresos en Diagnóstico Prenatal, 10(4), 218-220.

Sequeiros, J., Maciel, P., Taborda, F., Lêdo, S., Rocha, J.C., Lopes, A., Reto, F., Fortuna, A.M., Rousseau, M., Fleming, M., Coutinho, P., Rouleau, G.A., & Jorge, C.S. (1998). Prenatal diagnosis of Machado-Joseph disease by direct mutation analysis. Prenatal Diagnosis, 18, 611-617.

Shaw, C., Abrams, K., & Marteau, T.M. (1999). Psychological impact of predicting individuals' risks of illness: A systematic review. Social Science & Medicine, 49, 1571-1598.

Struewing, J.P., Lerman, C., Kase, R.G., Giambarresi, T.R., & Tucker, M.A. (1995). Anticipated uptake and impact of genetic testing in hereditary breast and ovarian cancer families. Cancer Epidemiology & Biomarkers Prevention, 4, 169-173.

Sujansky, E., Kreutzer, S.M, Johnson, A.M., Lezotte, D.C., Schrier, R.W., & Gabow, P.A. (1990). Attitudes of at-risk and affected individuals regarding presymptomatic testing for autosomal dominant polycystic kidney disease. American Journal of Medical Genetics, 35, 510-515.

Taylor, S. (2002). Predictive genetic testing: New conundrums and moral imperatives. Paper presented at Towards Humane Technologies: Biotechnology, New Media and Citizenship. An international conference exploring the social, moral and political implications of biotechnology research and commercialisation (15-17 July). The University of Queensland, Ipswich, Qld.. Retirado Novembro 14, 2002 de http://www.uq.edu.au/gsm/Confpapers/Taylor.doc.

Taylor, S. (2004). Predictive genetic test decisions for Huntington's disease: Context, appraisal and new moral imperatives. Social Science & Medicine, 58, 137-149.

Tibben, A. (2002). Genomics and dissemination of genetic information to individuals at risk: The need for a proactive approach? Essay presented at Leids Universitair Medish Centrum, Klinische Genetica. Retirado Novembro 14, 2002 de http://www.nwo.nl/NWOHome.nsf/pages/NWOP_ 5DPCTM%24file/Thema3.Tibben.

Tibben, A., Duivenvoorden, M., Niermeijer, M.F., Frets, P.G., van de Kamp, J.J.P., Roos,

R.A.C. et al. (1993a). Presymptomatic DNA testing for Huntington Disease: Identifying the need for psychological intervention. American Journal of Medical Genetics (Neuropsychiatric Genetics), 48, 137-144.

Tibben, A., Frets, P.G., van de Kamp, J.J.P., Niermeijer, M.J., Vegterven der Vlis, M., Roos, R.A.C., et al. (1993b). On attitudes and appreciation 6 months after predictive testing for Huntington disease in the Dutch program. American Journal of Medical Genetics (Neuropsychiatric Genetics), 48, 103-111.

Timmermans, D.R.M., & Henneman, L. (2002). Risk Perception and Informed Decision Making in Genetic Contexts. Unpublished manuscript, Department of Social Medicine, VU University Medical Center, Amsterdam.

Tyler, A., & Harper, P. S. (1983). Attitudes of subjects at risk and their relatives towards genetic counseling in Huntington chorea. Journal of Medical Genetics, 20, 179-188. Tyler, A., Quarrell, O.W.J., Lazarou, L.P., Meredith, A.L., & Harper, P.S. (1990). Exclusion testing in pregnancy for Huntington's disease. Journal of Medical Genetics, 27, 488-495.

van der Steenstraten, I.M., Tibben, A., Roos, R.A.C, van de Kamp, J.J.P., & Niermeijer,M.F. (1994). Predictive Testing for Huntington Disease: Nonparticipants Compared with Participants in the Dutch Program. American Journal of Human Genetics, 55, 618-625.

van Ommen, G.J.B., Bakker, E., & den Dunnen, J.T. (1999). The Human Genome Project and the future of diagnostics, treatment and prevention. The Lancet, 354(suppl. 1), 5-10.

van Riper, M., & McKinnon, W. (2004). Genetic testing for breast and ovarian cancer susceptibility: A family experience. Journal of Midwifery & Women's Health, 49, 210-219.

Wexler, N.S. (1979). Genetic "russian roulette": The experience of being "at risk" for Huntington's disease. In S. Kessler (Ed.), Genetic counseling: psychological dimensions (pp. 199-220). New York: Academic Press.

Wexler, N.S. (1984). Huntington's disease and other late onset genetic disorders. In A.E.H. Emery & I.M. Pullen (Eds.), Psychological aspects of genetic counselling (pp. 125-146). London: Academic Press.

Wiend, B. (1999). "Genetic testing: Beneficial or burdensone?" Retirado Novembro 11, 2002 de http://www.goshen.edu/bio/Biol410/BSSpapers99/becky/wieand.htm.

Wiggins, S., Whyte, P., Huggins, M., Adam, S., Theilmann, J., Bloch, M., et al. (1992). The psychological consequences of predictive testing for Huntington's disease. The New England Journal of Medicine, 327(20), 1401-1405.

Willams, J.K., Schutte, D.L., Evers, C., & Holkup, P.A. (2000). Redefinition: Coping with normal results from presymptomtic gene testing for neurodegenerative disorders. Research in Nursing and Health, 23, 260-269.

Wright, S. (2004). Genetic screening for Huntington's disease. Bio Teach Journal, 2, 40-44.

Zagalo-Cardoso, J.A. (1995). Aconselhamento Genético: Para uma Valorização do Paradigma Psicológico. Dissertação de Doutoramento não publicada, Faculdade de Psicologia e de Ciências da Educação, Universidade de Coimbra.

Zimmern, R.L. (1999). The human genome project: A false dawn? British Medical Journal, 319(13), 1282.

 

* E-mail: lrolim@ufp.pt