Doing the right thing for one's children: deciding whether to take the genetic test for Huntington's disease as a moral dilemma

Background: A predictive genetic test for Huntington’s disease can be used before any symptoms are apparent, but there is only sparse knowledge about the long-term consequences of a positive test result. Such knowledge is important in order to gain a deeper understanding of families’ experiences. Objectives: The aim of the study was to describe a young couple’s long-term experiences and the consequences of a predictive test for Huntington’s disease. Research design: A descriptive case study design was used with a longitudinal narrative life history approach. Participants and research context: The study was based on 18 interviews with a young couple, covering a period of 2.5 years; starting 6 months after the disclosure of the test results showing the woman to be a carrier of the gene causing Huntington’s disease. Ethical considerations: Even though the study was extremely sensitive, where potential harm constantly had to be balanced against the benefits, the couple had a strong wish to contribute to increased knowledge about people in their situation. The study was approved by the ethics committee. Findings: The results show that the long-term consequences were devastating for the family. This 3-year period was characterized by anxiety, repeated suicide attempts, financial difficulties and eventually divorce. Discussion: By offering a predictive test, the healthcare system has an ethical and moral responsibility. Once the test result is disclosed, the individual and the family cannot live without the knowledge it brings. Support is needed in a long-term perspective and should involve counselling concerning the families’ everyday life involving important decision-making, reorientation towards a new outlook of the future and the meaning of life. Conclusion: As health professionals, our ethical and moral responsibility thus embraces not only the phase in direct connection to the actual genetic test but also a commitment to provide support to help the family deal with the long-term consequences of the test.

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The right not to know and preimplantation genetic diagnosis for Huntington's disease

Journal of Medical Ethics ◽

10.1136/jme.2009.031047 ◽

2009 ◽

Vol 36 (1) ◽

pp. 30-33 ◽

Cited By ~ 26

Author(s):

E Asscher ◽

B-J Koops

Keyword(s):

Huntington's Disease ◽

Huntington’S Disease ◽

Preimplantation Genetic Diagnosis ◽

Genetic Diagnosis ◽

Right Not To Know ◽

The Right

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Drumming motor sequence training induces apparent myelin remodelling in Huntington’s disease: a longitudinal diffusion MRI and quantitative magnetization transfer study

10.1101/2019.12.24.887406 ◽

2019 ◽

Author(s):

Chiara Casella ◽

Jose Bourbon-Teles ◽

Sonya Bells ◽

Elizabeth Coulthard ◽

Greg D. Parker ◽

...

Keyword(s):

Executive Function ◽

Huntington's Disease ◽

Huntington’S Disease ◽

Diffusion Tensor ◽

Magnetization Transfer ◽

Motor Sequence ◽

Longitudinal Diffusion ◽

Microstructural Changes ◽

Before And After ◽

The Right

1.AbstractBackgroundImpaired myelination may contribute to Huntington’s disease (HD) pathogenesis. This study assessed differences in white matter (WM) microstructure between HD patients and controls, and tested whether drumming training stimulates WM remodelling in HD. Furthermore, it examined whether training-induced microstructural changes are related to improvements in motor and cognitive function.MethodsParticipants undertook two months of drumming exercises. Working memory and executive function were assessed before and after training. Changes in WM microstructure were investigated with diffusion tensor magnetic resonance imaging (DT-MRI)-based metrics, the restricted diffusion signal fraction (Fr) from the composite hindered and restricted model of diffusion (CHARMED) and the macromolecular proton fraction (MPF) from quantitative magnetization transfer (qMT) imaging. WM pathways linking the putamen and the supplementary motor area (SMA-Putamen), and three segments of the corpus callosum (CCI, CCII, CCIII) were studied using deterministic tractography. Baseline MPF differences between patients and controls were assessed with tract-based spatial statistics (TBSS).ResultsMPF was reduced in HD patients compared to controls in the mid-section of the CC in HD subjects at baseline, while a significantly greater change in MPF was detected in HD patients relative to controls in the CCII, CCIII, and the right SMA-putamen post-training. Further, although patients improved their drumming and executive function performance, such improvements did not correlate with microstructural changes.ConclusionsIncreased MPF suggests training-induced myelin changes in HD. Tailored behavioural stimulation may lead to neural benefits in early HD that could be exploited for delaying disease progression.

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Predictive genetic test decisions for Huntington's disease: context, appraisal and new moral imperatives

Social Science & Medicine ◽

10.1016/s0277-9536(03)00155-2 ◽

2004 ◽

Vol 58 (1) ◽

pp. 137-149 ◽

Cited By ~ 68

Author(s):

Sandra D Taylor

Keyword(s):

Huntington's Disease ◽

Huntington’S Disease ◽

Genetic Test ◽

Predictive Genetic Test

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Effects of severity of host striatal damage on the morphological development of intrastriatal transplants in a rodent model of Huntington's disease: implications for timing of surgical intervention

Journal of Neurosurgery ◽

10.3171/jns.1998.89.2.0267 ◽

1998 ◽

Vol 89 (2) ◽

pp. 267-274 ◽

Cited By ~ 25

Author(s):

Colin Watts ◽

Stephen B. Dunnett

Keyword(s):

Huntington's Disease ◽

Huntington’S Disease ◽

Surgical Intervention ◽

Rodent Model ◽

Morphological Development ◽

Sprague Dawley ◽

Content Type ◽

Striatal Grafts ◽

The Right ◽

Fine Print

Object. The goal of this study was to investigate the effect of the severity of host neural damage on the morphological development of intrastriatal transplants in a rodent model of Huntington's disease. Methods. Sprague—Dawley rats were subjected to unilateral striatal lesioning induced by administration of quinolinic acid (20 nM, 40 nM, or 90 nM). Seven days postlesioning, intrastriatal cell suspension grafts were placed in the right striatum in some of these animals. Grafts were also placed in the right striatum of additional animals that had not been subjected to lesioning. The rats were killed and processed for morphological analysis 8 weeks after grafting. The results indicate that striatal grafts survive and grow much better when implanted into a lesioned striatum rather than into an intact striatum, as measured both by the volume and the numbers of medium-sized spiny neurons within the graft. Only a small or modest lesion is necessary to produce this effect. By some measures (such as graft volume) grafts survive less well when the lesion is more extensive. The presence of a graft reduced the extent of striatal atrophy induced by the lesions, but this effect was not caused by differences in the numbers of surviving neurons per se. Conclusions. These results have significant implications for the timing of surgical intervention and patient selection with respect to current and future clinical trials of striatal transplantation in the treatment of Huntington's disease.

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Ethical aspects of undergoing a predictive genetic testing for Huntington's disease

Nursing Ethics ◽

10.1177/0969733012452686 ◽

2012 ◽

Vol 20 (2) ◽

pp. 189-199 ◽

Cited By ~ 4

Author(s):

Petra Lilja Andersson ◽

Niklas Juth ◽

Åsa Petersén ◽

Caroline Graff ◽

Anna-Karin Edberg

Keyword(s):

Huntington's Disease ◽

Huntington’S Disease ◽

Health Care Services ◽

Genetic Test ◽

Test Results ◽

Ethical Aspects ◽

Study Approach ◽

Care Services ◽

History Approach

The aim of this study was to describe the experiences of undergoing a presymptomatic genetic test for the hereditary and fatal Huntington’s disease, using a case study approach. The study was based on 18 interviews with a young woman and her husband from the decision to undergo the test, to receiving the results and trying to adapt to them, which were analysed using a life history approach. The findings show that the process of undergoing a presymptomatic test involves several closely connected ethical and medical questions, such as the reason for the test, the consequences of the test results and how health-care services can be developed to support people in this situation.

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