Ethical issues and Huntington's disease

Kromberg, J. G. R.; Wessels, Tina

doi:10.7196/samj.7146

Cited by 7 publications

(2 citation statements)

References 28 publications

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“…Although all of these options are considered and assessed step by step, the reality is that subjects at-risk admit they feel overwhelmed because they must take a significant number of important decisions in a short space of time (Bouchghoul et al, 2016). Ethical (Kromberg & Wessels, 2013), legal (Freckelton, 2010(Freckelton, , 2014, financial, logistical and material aspects become the centre of general decisions related to life organization as a whole, depending on what is expected to happen to the subjects at-risk (Kromberg & Wessels, 2013).…”

Section: Discussionmentioning

confidence: 99%

Motivation to perform presymptomatic testing in portuguese subjects at-risk for late-onset genetic diseases

Leite¹,

Denis²,

Sequeiros³

et al. 2017

Interd

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resUMenEl papel del psicólogo clínico en el contexto del consejo genético incluye brindar apoyo a los sujetos en riesgo en el proceso de toma de decisiones, independientemente de la decisión adoptada por el sujeto (conociendo o no el resultado de las pruebas genéticas).El estudio que se informa aborda la motivación para realizar las pruebas pre-sintomáticas (PPS) de sujetos en situación de riesgo para tres enfermedades: polineuropatía amiloide familiar (PAF), la enfermedad de Huntington (EH) y la enfermedad de Machado-Joseph (EMJ) y comparar con la motivación para realizar las PPS para hemocromatosis (HH).La muestra consistió en 213 sujetos portugueses que tenían riesgo genético para contraer las tres enfermedades y 31 sujetos en situación de ries go genético para contraer hemocromatosis. Ellos fueron evaluados con una entrevista para ob tener datos sociodemográficos y debían responder a una pregunta sobre la motivación para llevar a cabo las pruebas pre-sintomáticas.Se obtuvieron siete categorías principales y las las siguientes son las más significativas para PAF, EH y EMJ: razones relacionadas con el futuro, razones relacionadas con los demás y razones relacionadas con la curiosidad y la necesidad de conocer. Para hemocromatosis, las más importantes resultaron ser razones relacionadas con los demás y las relacionadas con las características de la enfermedad.La motivación para realizar el test pre-sintomático (PST) de la PAF, EH y EMJ es externa y sin relación con la enfermedad, mientras que la motivación de los sujetos en situación de riesgo para la HH está relacionada con la enfermedad. Las razones relacionadas con los demás es una motivación común en ambos grupos. A los sujetos también les preocupa la posibilidad de transmitir la enfermedad a sus hijos.Palabras clave: Pruebas pre-sintomáticas (PPS); Enfermedad genética; Sujetos en situación de riesgo; Polineuropatía amiloide familiar (PAF) TTR V30M; Enfermedad de Huntington (EH); Enfermedad de Machado-Joseph (EMJ). aBstraCtThe role of the clinical psychologist in the context of genetic counseling includes support for the process of decision-making for subjects at-risk, regardless of the decision that was made. For this,

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Section: Discussionmentioning

confidence: 99%

Motivation to perform presymptomatic testing in portuguese subjects at-risk for late-onset genetic diseases

Leite¹,

Denis²,

Sequeiros³

et al. 2017

Interd

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“…Albeit there is always the possibility, especially in the case of commoner cancers such as breast cancer, that the diagnosis might be coincidental. A case of twin testing was reported in South Africa, where zygosity testing was suggested to clarify the probability of the twins being identical before a predictive test for Huntington disease [6]. However, the twin who did not wish to be tested declined zygosity testing and predictive testing went ahead for the other twin despite concerns being raised by the team looking after the twin who did not wish to be tested.…”

Section: Discussionmentioning

confidence: 99%

Ethical Issues in Genetic Testing for Inherited Cancer Predisposition Syndromes: the Potentially Conflicting Interests of Patients and Their Relatives

et al. 2020

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Purpose of Review This review uses clinical cases to highlight some of the ethical dilemmas currently faced by oncologists, geneticists and others who request genetic testing for inherited cancer disorders. Recent Findings Recent ethical guidance supports clinicians in testing patients when other family members decline similar testing, even when such testing will reveal those family members' genetic status. And increasingly there is acknowledgement that when a patient declines to share genetic results with family members, clinicians may have an ethical duty to breach patient confidentiality in order to inform at-risk relatives to whom they may owe a duty of care, so that they can choose to access genetic testing and potentially life-saving screening and treatment. Summary Genetic testing for inherited cancer disorders raises multiple ethical issues, which cannot always be easily resolved by discussion with patients, or with their family members. Clinical ethics committees can provide valuable assistance in resolving the dilemmas presented in these cases.

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Genetic counseling and testing for Huntington's disease: A historical review

Nance

2016

American J of Med Genetics Pt B

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This manuscript describes the ways in which genetic counseling has evolved since John Pearson and Sheldon Reed first promoted "a genetic education" in the 1950s as a voluntary, non-directive clinical tool for permitting individual decision making. It reviews how the emergence of Huntington's disease (HD) registries and patient support organizations, genetic testing, and the discovery of a disease-causing CAG repeat expansion changed the contours of genetic counseling for families with HD. It also reviews the guidelines, outcomes, ethical and laboratory challenges, and uptake of predictive, prenatal, and preimplantation testing, and it casts a vision for how clinicians can better make use of genetic counseling to reach a broader pool of families that may be affected by HD and to ensure that genetic counseling is associated with the best levels of care.

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Ethical issues and Huntington's disease

Cited by 7 publications

References 28 publications

Motivation to perform presymptomatic testing in portuguese subjects at-risk for late-onset genetic diseases

Motivation to perform presymptomatic testing in portuguese subjects at-risk for late-onset genetic diseases

Ethical Issues in Genetic Testing for Inherited Cancer Predisposition Syndromes: the Potentially Conflicting Interests of Patients and Their Relatives

Genetic counseling and testing for Huntington's disease: A historical review

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