Genetic Testing in Prion Disease: Psychological Consequences of the Decisions to Know or Not to Know
Purpose: Presymptomatic testing for susceptibility to genetic prion diseases is often delivered in difficult circumstances, as the index case is often dying when a genetic diagnosis is obtained. Since test requests in these diseases are very rare, the factors underlying decisions of relatives to be...
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doaj-330dc115026841b89b1f3fb41726b5372020-11-25T02:45:42ZengFrontiers Media S.A.Frontiers in Genetics1664-80212019-09-011010.3389/fgene.2019.00895462246Genetic Testing in Prion Disease: Psychological Consequences of the Decisions to Know or Not to KnowMathias Schwartz0Jean-Philippe Brandel1Jean-Philippe Brandel2Marie Lise Babonneau3Marie Lise Babonneau4Christilla Boucher5Elodie Schaerer6Stephane Haik7Stephane Haik8Jean Louis Laplanche9Jean Louis Laplanche10Marcela Gargiulo11Marcela Gargiulo12Marcela Gargiulo13Alexandra Durr14Alexandra Durr15APHP, Department of Genetics, University Hospital Pitié-Salpêtrière, Paris, FranceCellule nationale de référence des maladies de Creutzfeldt-Jakob, APHP, University Hospital Pitié-Salpêtrière, Paris, FranceInstitut du Cerveau et de la Moelle épinière (ICM), AP-HP, Inserm, CNRS, University Hospital Pitié-Salpêtrière, Sorbonne Université, Paris, FranceAPHP, Department of Genetics, University Hospital Pitié-Salpêtrière, Paris, FranceCellule nationale de référence des maladies de Creutzfeldt-Jakob, APHP, University Hospital Pitié-Salpêtrière, Paris, FranceAPHP, Department of Genetics, University Hospital Pitié-Salpêtrière, Paris, FranceAPHP, Department of Genetics, University Hospital Pitié-Salpêtrière, Paris, FranceCellule nationale de référence des maladies de Creutzfeldt-Jakob, APHP, University Hospital Pitié-Salpêtrière, Paris, FranceInstitut du Cerveau et de la Moelle épinière (ICM), AP-HP, Inserm, CNRS, University Hospital Pitié-Salpêtrière, Sorbonne Université, Paris, FranceCellule nationale de référence des maladies de Creutzfeldt-Jakob, APHP, University Hospital Pitié-Salpêtrière, Paris, FranceDépartement de Biochimie et biologie moléculaire, Lariboisière Hospital, Paris, FranceAPHP, Department of Genetics, University Hospital Pitié-Salpêtrière, Paris, FranceLaboratoire de Psychologie Clinique et Psychopathologie, Institut de Psychologie, Université Paris Descartes, Sorbonne Paris Cité, Paris, FranceInstitut of Myologie, University Hospital Pitié-Salpêtrière, Paris, FranceAPHP, Department of Genetics, University Hospital Pitié-Salpêtrière, Paris, FranceInstitut du Cerveau et de la Moelle épinière (ICM), AP-HP, Inserm, CNRS, University Hospital Pitié-Salpêtrière, Sorbonne Université, Paris, FrancePurpose: Presymptomatic testing for susceptibility to genetic prion diseases is often delivered in difficult circumstances, as the index case is often dying when a genetic diagnosis is obtained. Since test requests in these diseases are very rare, the factors underlying decisions of relatives to be tested or not and the long-term psychological consequences are not reported.Methods: We contacted subjects who had consulted between 2004 and 2017 because a relative carried a pathological PRNP variant. Standardized psychological scales and semistructured interviews were proposed.Results: We did contact 19 of the 30 subjects who had consulted: 6 of 10 who did not undergo testing, 10 of 12 noncarriers, and 3 of 8 mutation carriers. Anxiety rates were high and similar between noncarriers and untested subjects.Conclusions: Living in a family with inherited prion disease produced psychological burden, regardless of the decision to undergo testing and its results. Decisions in favor of being testing did not allow relief of anxiety about the family disease. The dilemmatic decision not to know remained a burden to be coped with. Genetic counseling procedures should take into account all these situations, even that of noncarriers and that of untested.https://www.frontiersin.org/article/10.3389/fgene.2019.00895/fullPRNPpresymptomatic testingprionpsychological scalesanxiety |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Mathias Schwartz Jean-Philippe Brandel Jean-Philippe Brandel Marie Lise Babonneau Marie Lise Babonneau Christilla Boucher Elodie Schaerer Stephane Haik Stephane Haik Jean Louis Laplanche Jean Louis Laplanche Marcela Gargiulo Marcela Gargiulo Marcela Gargiulo Alexandra Durr Alexandra Durr |
spellingShingle |
Mathias Schwartz Jean-Philippe Brandel Jean-Philippe Brandel Marie Lise Babonneau Marie Lise Babonneau Christilla Boucher Elodie Schaerer Stephane Haik Stephane Haik Jean Louis Laplanche Jean Louis Laplanche Marcela Gargiulo Marcela Gargiulo Marcela Gargiulo Alexandra Durr Alexandra Durr Genetic Testing in Prion Disease: Psychological Consequences of the Decisions to Know or Not to Know Frontiers in Genetics PRNP presymptomatic testing prion psychological scales anxiety |
author_facet |
Mathias Schwartz Jean-Philippe Brandel Jean-Philippe Brandel Marie Lise Babonneau Marie Lise Babonneau Christilla Boucher Elodie Schaerer Stephane Haik Stephane Haik Jean Louis Laplanche Jean Louis Laplanche Marcela Gargiulo Marcela Gargiulo Marcela Gargiulo Alexandra Durr Alexandra Durr |
author_sort |
Mathias Schwartz |
title |
Genetic Testing in Prion Disease: Psychological Consequences of the Decisions to Know or Not to Know |
title_short |
Genetic Testing in Prion Disease: Psychological Consequences of the Decisions to Know or Not to Know |
title_full |
Genetic Testing in Prion Disease: Psychological Consequences of the Decisions to Know or Not to Know |
title_fullStr |
Genetic Testing in Prion Disease: Psychological Consequences of the Decisions to Know or Not to Know |
title_full_unstemmed |
Genetic Testing in Prion Disease: Psychological Consequences of the Decisions to Know or Not to Know |
title_sort |
genetic testing in prion disease: psychological consequences of the decisions to know or not to know |
publisher |
Frontiers Media S.A. |
series |
Frontiers in Genetics |
issn |
1664-8021 |
publishDate |
2019-09-01 |
description |
Purpose: Presymptomatic testing for susceptibility to genetic prion diseases is often delivered in difficult circumstances, as the index case is often dying when a genetic diagnosis is obtained. Since test requests in these diseases are very rare, the factors underlying decisions of relatives to be tested or not and the long-term psychological consequences are not reported.Methods: We contacted subjects who had consulted between 2004 and 2017 because a relative carried a pathological PRNP variant. Standardized psychological scales and semistructured interviews were proposed.Results: We did contact 19 of the 30 subjects who had consulted: 6 of 10 who did not undergo testing, 10 of 12 noncarriers, and 3 of 8 mutation carriers. Anxiety rates were high and similar between noncarriers and untested subjects.Conclusions: Living in a family with inherited prion disease produced psychological burden, regardless of the decision to undergo testing and its results. Decisions in favor of being testing did not allow relief of anxiety about the family disease. The dilemmatic decision not to know remained a burden to be coped with. Genetic counseling procedures should take into account all these situations, even that of noncarriers and that of untested. |
topic |
PRNP presymptomatic testing prion psychological scales anxiety |
url |
https://www.frontiersin.org/article/10.3389/fgene.2019.00895/full |
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