Guidelines for presymptomatic testing for Huntington's disease: Past, present and future in France

Clément, Sylvain; Gargiulo, Marcela; Feingold, Josué; Dürr, Alexandra

doi:10.1016/j.neurol.2015.02.016

Cited by 12 publications

(18 citation statements)

References 20 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…HD was the first adult-onset neurological disease for which PT became possible 2. It served as a model and provided the framework for multistep and interdisciplinary counselling for persons choosing to know their status 3. There is a 50% risk per se of being a carrier (as well as of being a non-carrier) of the causal mutation of the disease, that is, an expanded CAG remote above 35 units in the HTT gene.…”

Section: Introductionmentioning

confidence: 99%

A liminal stage after predictive testing for Huntington disease

et al. 2017

View full text Add to dashboard Cite

show abstract

Section: Introductionmentioning

confidence: 99%

A liminal stage after predictive testing for Huntington disease

et al. 2017

View full text Add to dashboard Cite

show abstract

“…After testing, two studies recommended offering additional appointments to provide further education about the condition and discuss risk perception and beliefs [ 36 , 37 ]. Sixteen studies encouraged the client to attend short or longer-term psychological follow-up sessions, either if a pathogenic variant was confirmed [ 26 , 28 , 38 ], regardless of the result [ 27 , 30 , 33 , 39 – 48 ], or if requested or required based on pre-test discussions [ 46 , 49 , 50 ]. Acceptance of follow-up varied, with up to 80% of participants choosing to proceed with post-test psychological follow-up in two studies on predictive testing [ 38 , 49 ], and none proceeding in two other studies in predictive [ 43 ] and reproductive testing [ 51 ].…”

Section: Resultsmentioning

confidence: 99%

“…Sixteen studies encouraged the client to attend short or longer-term psychological follow-up sessions, either if a pathogenic variant was confirmed [ 26 , 28 , 38 ], regardless of the result [ 27 , 30 , 33 , 39 – 48 ], or if requested or required based on pre-test discussions [ 46 , 49 , 50 ]. Acceptance of follow-up varied, with up to 80% of participants choosing to proceed with post-test psychological follow-up in two studies on predictive testing [ 38 , 49 ], and none proceeding in two other studies in predictive [ 43 ] and reproductive testing [ 51 ]. In some practices, clients were required to complete structured psychological or psychosocial surveys [ 30 , 31 , 33 – 35 , 40 , 43 – 45 , 50 , 52 ], or disease-specific neurological or objective knowledge measurement tools [ 30 , 53 ] in addition to, or instead of, a formal neurological or psychiatric/psychological assessment (Table 3 ).…”

Section: Resultsmentioning

confidence: 99%

Genetic counseling and testing practices for late-onset neurodegenerative disease: a systematic review

et al. 2021

View full text Add to dashboard Cite

Objective To understand contemporary genetic counseling and testing practices for late-onset neurodegenerative diseases (LONDs), and identify whether practices address the internationally accepted goals of genetic counseling: interpretation, counseling, education, and support. Methods Four databases were systematically searched for articles published from 2009 to 2020. Peer-reviewed research articles in English that reported research and clinical genetic counseling and testing practices for LONDs were included. A narrative synthesis was conducted to describe different practices and map genetic counseling activities to the goals. Risk of bias was assessed using the Qualsyst tool. The protocol was registered with PROSPERO (CRD42019121421). Results Sixty-one studies from 68 papers were included. Most papers focused on predictive testing (58/68) and Huntington’s disease (41/68). There was variation between papers in study design, study population, outcomes, interventions, and settings. Although there were commonalities, novel and inconsistent genetic counseling practices were identified. Eighteen papers addressed all four goals of genetic counseling. Conclusion Contemporary genetic counseling and testing practices for LONDs are varied and informed by regional differences and the presence of different health providers. A flexible, multidisciplinary, client- and family-centered care continues to emerge. As genetic testing becomes a routine part of care for patients (and their relatives), health providers must balance their limited time and resources with ensuring clients are safely and effectively counseled, and all four genetic counseling goals are addressed. Areas of further research include diagnostic and reproductive genetic counseling/testing practices, evaluations of novel approaches to care, and the role and use of different health providers in practice. Supplementary Information The online version contains supplementary material available at 10.1007/s00415-021-10461-5.

show abstract

“…As a result, undergoing genetic testing is not an obvious decision to make. Interestingly, only a minority of people who do make it actually complete the process [75]. This information alters the individual's health status yet it does not provide them with any medical response or treatment.…”

Section: Individual Implications Of Mortality Predictionmentioning

confidence: 99%

Ethical and social implications of approaching death prediction in humans - when the biology of ageing meets existential issues

et al. 2020

View full text Add to dashboard Cite

Background: The discovery of biomarkers of ageing has led to the development of predictors of impending natural death and has paved the way for personalised estimation of the risk of death in the general population. This study intends to identify the ethical resources available to approach the idea of a long-lasting dying process and consider the perspective of death prediction. The reflection on human mortality is necessary but not sufficient to face this issue. Knowledge about death anticipation in clinical contexts allows for a better understanding of it. Still, the very notion of prediction and its implications must be clarified. This study outlines in a prospective way issues that call for further investigation in the various fields concerned: ethical, psychological, medical and social. Methods: The study is based on an interdisciplinary approach, a combination of philosophy, clinical psychology, medicine, demography, biology and actuarial science. Results: The present study proposes an understanding of death prediction based on its distinction with the relationship to human mortality and death anticipation, and on the analogy with the implications of genetic testing performed in pre-symptomatic stages of a disease. It leads to the identification of a multi-layered issue, including the individual and personal relationship to death prediction, the potential medical uses of biomarkers of ageing, the social and economic implications of the latter, especially in regard to the way longevity risk is perceived. Conclusions: The present study work strives to propose a first sketch of what the implications of death prediction as such could be-from an individual, medical and social point of view. Both with anti-ageing medicine and the transhumanist quest for immortality, research on biomarkers of ageing brings back to the forefront crucial ethical matters: should we, as human beings, keep ignoring certain things, primarily the moment of our death, be it an estimation of it? If such knowledge was available, who should be informed about it and how such information should be given? Is it a knowledge that could be socially shared?

show abstract

Guidelines for presymptomatic testing for Huntington's disease: Past, present and future in France

Cited by 12 publications

References 20 publications

A liminal stage after predictive testing for Huntington disease

A liminal stage after predictive testing for Huntington disease

Genetic counseling and testing practices for late-onset neurodegenerative disease: a systematic review

Ethical and social implications of approaching death prediction in humans - when the biology of ageing meets existential issues

Contact Info

Product

Resources

About