Predictive testing for Huntington disease over 24 years: Evolution of the profile of the participants and analysis of symptoms
Abstract Background Huntington disease (HD) is a devastating neurodegenerative autosomal dominant genetic condition. Predictive testing (PT) is available through a defined protocol for at‐risk individuals. We analyzed the over‐24‐years evolution of practices regarding PT for HD in a single center. M...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2019-10-01
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| Series: | Molecular Genetics & Genomic Medicine |
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| Online Access: | https://doi.org/10.1002/mgg3.881 |
| _version_ | 1797301062514769920 |
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| author | Francis Ramond Isabelle Quadrio Laurence Le Vavasseur Hélène Chaumet Fabrice Boyer Muriel Bost Elisabeth Ollagnon‐Roman |
| author_facet | Francis Ramond Isabelle Quadrio Laurence Le Vavasseur Hélène Chaumet Fabrice Boyer Muriel Bost Elisabeth Ollagnon‐Roman |
| author_sort | Francis Ramond |
| collection | DOAJ |
| description | Abstract Background Huntington disease (HD) is a devastating neurodegenerative autosomal dominant genetic condition. Predictive testing (PT) is available through a defined protocol for at‐risk individuals. We analyzed the over‐24‐years evolution of practices regarding PT for HD in a single center. Methods We gathered data from the files of all individuals seeking PT for HD in Lyon, France, from 1994 to 2017. Results 448 out of 567 participants had exploitable data. Age at consultation dichotomized over 24 years toward an eightfold increase in individuals aged >55 (2/94 vs. 30/183; 2% to 16%; p < .0001) and twice as many individuals aged 18–20 (3/94 vs. 12/183; 3%–7%; p < .05). Motives for testing remained stable. The rate of withdrawal doubled over 24 years (9/94 vs. 38/183; 9%–21%; p < .02). Independently of the time period, less withdrawal was observed for married, accompanied, at 50% risk, and symptomatic individuals, and in those able to explicit the motives for testing or taking the test to inform their children. We also assessed the consistency between the presence of subtle symptoms compatible with HD found before the test by the team's neurologist, and the positivity of the molecular test. The concordance was 100% (17/17) for associated motor and cognitive signs, 87% (27/31) for isolated motor signs, and 70% (7/10) for isolated cognitive signs. Furthermore, 91% (20/22) of individuals who requested testing because they thought they had symptoms, were indeed found carriers. Conclusion This over‐24 years study underlines an increasing withdrawal from protocol and a dichotomization of participants’ age. We also show a strong concordance between symptoms perceived by the neurologist or by the patient, and the subsequent positivity of the predictive molecular test. |
| first_indexed | 2024-03-07T23:16:59Z |
| format | Article |
| id | doaj.art-6d4720e49ff14aa99e1f0d3d68e063dc |
| institution | Directory Open Access Journal |
| issn | 2324-9269 |
| language | English |
| last_indexed | 2024-03-07T23:16:59Z |
| publishDate | 2019-10-01 |
| publisher | Wiley |
| record_format | Article |
| series | Molecular Genetics & Genomic Medicine |
| spelling | doaj.art-6d4720e49ff14aa99e1f0d3d68e063dc2024-02-21T10:29:27ZengWileyMolecular Genetics & Genomic Medicine2324-92692019-10-01710n/an/a10.1002/mgg3.881Predictive testing for Huntington disease over 24 years: Evolution of the profile of the participants and analysis of symptomsFrancis Ramond0Isabelle Quadrio1Laurence Le Vavasseur2Hélène Chaumet3Fabrice Boyer4Muriel Bost5Elisabeth Ollagnon‐Roman6Service de neurogénétique et médecine prédictive GH Nord‐Hôpital de la Croix Rousse, Hospices civils de Lyon Lyon FranceUnité des Pathologies Neurogénétiques Héréditaires ‐ Service de biochimie et biologie moléculaire Grand Est CBPE, Hospices Civils de Lyon Lyon FranceService de neurogénétique et médecine prédictive GH Nord‐Hôpital de la Croix Rousse, Hospices civils de Lyon Lyon FranceService de neurogénétique et médecine prédictive GH Nord‐Hôpital de la Croix Rousse, Hospices civils de Lyon Lyon FranceService de neurogénétique et médecine prédictive GH Nord‐Hôpital de la Croix Rousse, Hospices civils de Lyon Lyon FranceUnité des Pathologies Neurogénétiques Héréditaires ‐ Service de biochimie et biologie moléculaire Grand Est CBPE, Hospices Civils de Lyon Lyon FranceService de neurogénétique et médecine prédictive GH Nord‐Hôpital de la Croix Rousse, Hospices civils de Lyon Lyon FranceAbstract Background Huntington disease (HD) is a devastating neurodegenerative autosomal dominant genetic condition. Predictive testing (PT) is available through a defined protocol for at‐risk individuals. We analyzed the over‐24‐years evolution of practices regarding PT for HD in a single center. Methods We gathered data from the files of all individuals seeking PT for HD in Lyon, France, from 1994 to 2017. Results 448 out of 567 participants had exploitable data. Age at consultation dichotomized over 24 years toward an eightfold increase in individuals aged >55 (2/94 vs. 30/183; 2% to 16%; p < .0001) and twice as many individuals aged 18–20 (3/94 vs. 12/183; 3%–7%; p < .05). Motives for testing remained stable. The rate of withdrawal doubled over 24 years (9/94 vs. 38/183; 9%–21%; p < .02). Independently of the time period, less withdrawal was observed for married, accompanied, at 50% risk, and symptomatic individuals, and in those able to explicit the motives for testing or taking the test to inform their children. We also assessed the consistency between the presence of subtle symptoms compatible with HD found before the test by the team's neurologist, and the positivity of the molecular test. The concordance was 100% (17/17) for associated motor and cognitive signs, 87% (27/31) for isolated motor signs, and 70% (7/10) for isolated cognitive signs. Furthermore, 91% (20/22) of individuals who requested testing because they thought they had symptoms, were indeed found carriers. Conclusion This over‐24 years study underlines an increasing withdrawal from protocol and a dichotomization of participants’ age. We also show a strong concordance between symptoms perceived by the neurologist or by the patient, and the subsequent positivity of the predictive molecular test.https://doi.org/10.1002/mgg3.881geneticsHuntington diseaseneurogeneticspredictive testingpresymptomatic testing |
| spellingShingle | Francis Ramond Isabelle Quadrio Laurence Le Vavasseur Hélène Chaumet Fabrice Boyer Muriel Bost Elisabeth Ollagnon‐Roman Predictive testing for Huntington disease over 24 years: Evolution of the profile of the participants and analysis of symptoms Molecular Genetics & Genomic Medicine genetics Huntington disease neurogenetics predictive testing presymptomatic testing |
| title | Predictive testing for Huntington disease over 24 years: Evolution of the profile of the participants and analysis of symptoms |
| title_full | Predictive testing for Huntington disease over 24 years: Evolution of the profile of the participants and analysis of symptoms |
| title_fullStr | Predictive testing for Huntington disease over 24 years: Evolution of the profile of the participants and analysis of symptoms |
| title_full_unstemmed | Predictive testing for Huntington disease over 24 years: Evolution of the profile of the participants and analysis of symptoms |
| title_short | Predictive testing for Huntington disease over 24 years: Evolution of the profile of the participants and analysis of symptoms |
| title_sort | predictive testing for huntington disease over 24 years evolution of the profile of the participants and analysis of symptoms |
| topic | genetics Huntington disease neurogenetics predictive testing presymptomatic testing |
| url | https://doi.org/10.1002/mgg3.881 |
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