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1. Who and Why? Requests for Presymptomatic Genetic Testing for Amyotrophic Lateral Sclerosis/Frontotemporal Dementia vs Huntington Disease

Author

Ariane Herson, Stéphanie Staraci, François Salachas, Maria del Mar Amador, Cécile Cazeneuve, Marcela Gargiulo, Alexandra Durr, Christilla Boucher, Isabelle Le Ber, Fabienne Clot, Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centres de référence pour la sclérose latérale amyotrophique [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), UF Neurométabolique Bioclinique et Génétique [CHU Pitié-Salpêtrière], Unité fonctionnelle de neurogénétique moléculaire et cellulaire, Gestionnaire, HAL Sorbonne Université 5, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut Pierre Louis d'Epidémiologie et de Santé Publique (iPLESP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Sorbonne Université (SU), Centre d'investigation clinique Paris Est [CHU Pitié Salpêtrière] (CIC Paris-Est), Unité de Recherche Clinique des hôpitaux Pitié-Salpêtrière – Charles Foix [CHU Pitié Salpêtrière] (URC PSL-CFX), CHU Charles Foix [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Direction de la Recherche Clinique et de l'Innovation [AP-HP] (DRCI), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut de la Mémoire et de la Maladie d'Alzheimer [CHU Pitié-Salpétriêre] (IM2A), Service de Génétique médicale [CHU Pitié-Salpêtrière], Gargiulo, Marcela, Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), and Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)

Subjects
Pediatrics, medicine.medical_specialty, Genetic counseling, Population, [SHS.PSY]Humanities and Social Sciences/Psychology, Neurogenetics, Article, [SHS.PSY] Humanities and Social Sciences/Psychology, 03 medical and health sciences, 0302 clinical medicine, Huntington's disease, mental disorders, Medicine, Presymptomatic Testing, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Amyotrophic lateral sclerosis, education, Genetics (clinical), 030304 developmental biology, Genetic testing, 0303 health sciences, education.field_of_study, medicine.diagnostic_test, business.industry, medicine.disease, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Neurology (clinical), business, 030217 neurology & neurosurgery, Frontotemporal dementia
Abstract

ObjectiveWe aimed to describe the population of subjects seeking presymptomatic counseling for amyotrophic lateral sclerosis and/or frontotemporal dementia (ALS/FTD) and compared them with those demanding the well-established presymptomatic test for Huntington disease (HD).MethodsWe retrospectively examined the requests of a cohort of individuals at risk of familial ALS/FTD and 1 at risk of HD over the same time frame of 11 years. The individuals were seen in the referral center of our neurogenetics unit.ResultsOf the 106 presymptomatic testing (PT) requests from subjects at risk of ALS/FTD, 65% were seen in the last 3 years. Over two-thirds of the subjects were at risk of carrying mutations responsible for ALS, FTD, or both. Sixty-two percent of the subjects came from families with a known hexanucleotide repeat expansion in C9ORF72. During the same period, we counseled 840 subjects at risk of HD. Subjects at risk of ALS/FTD had the presymptomatic test significantly sooner after being aware of their risk, but were older than those at risk of HD. The youngest subjects requesting the test had the highest disease load in the family (p < 0.05).ConclusionsDemands for PT for ALS/FTD have been increasingly growing, particularly since the discovery of the C9ORF72 gene. The major specificity of the genetic counseling for these diseases is the unpredictability of the clinical phenotype for most of the genes involved. Awareness of this added uncertainty does not prevent individuals from taking the test, as the dropout rate is not higher than that for HD.

Published
2020
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2. Psychosocial Impact of Predictive Genetic Testing in Hereditary Heart Diseases: The PREDICT Study

Author

Elise Schaefer, Delphine Dupin Deguine, C. Rouzier, Estelle Gandjbakhch, Krystelle Séné, Claire Cécile Michon, Marie Lise Babonneau, Philippe Charron, Caroline Sawka, Bertrand Isidor, Jean François Pruny, Mélanie Hebert, Stéphanie Staraci, Isabelle Denjoy, Caroline Rooryck-Thambo, Ibticem Raji, Rafik Mansouri, Aurélien Palmyre, Linda Akloul, Sandrine Brice, Annick Toutain, Sophie Tezenas du Montcel, Angelique Curjol, Carole Maupain, Gipsy Billy, Céline Bordet, Alexandre Moerman, Pascale Richard, Marcela Gargiulo, Véronique Fressart, Elsa Le Boette, Flavie Ader, Bruno Leheup, Marc Planes, Karine Nguyen, A.C. Brehin, Jean Michael Mazzella, Amine Bekhechi, Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut Pierre Louis d'Epidémiologie et de Santé Publique (iPLESP), Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Cardiologie [CHU Pitié-Salpêtrière], Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Institute of cardiometabolism and nutrition (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Service de génétique médicale - Unité de génétique clinique [Nantes], Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes), Hôpital Ambroise Paré [AP-HP], Service de Génétique Médicale [Lille], Institut de génétique médicale-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Service de génétique [Tours], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)-Hôpital Bretonneau, CHU Pontchaillou [Rennes], Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques (GPMCND), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Normandie Université (NU), CHU Rouen, CHU Dijon, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), CHU Bordeaux [Bordeaux], CHU Strasbourg, Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Toulouse [Toulouse], Institut de Recherche sur le Cancer et le Vieillissement (IRCAN), Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UCA), Université Côte d'Azur (UCA), Centre Hospitalier Universitaire [Grenoble] (CHU), CHU Pointe-à-Pitre/Abymes [Guadeloupe], CIC - CHU Bichat, Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Génétique Médicale [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Hôpital Morvan - CHRU de Brest (CHU - BREST ), Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), CHU de Saint-Brieuc, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Unité Fonctionnelle de Cardiogénétique et Myogénétique Moléculaire et Cellulaire, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Université de Paris - UFR Pharmacie [Santé] (UP UFR Pharmacie), Université de Paris (UP), Sorbonne Université (SU), Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Hôpital Bretonneau-Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut de Cardiométabolisme et Nutrition = Institute of Cardiometabolism and Nutrition [CHU Pitié Salpêtrière] (IHU ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Pitié-Salpêtrière [AP-HP], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Université Nice Sophia Antipolis (1965 - 2019) (UNS), UFR Pharmacie [Santé] - Université Paris Cité (UFR Pharmacie UPCité), and Université Paris Cité (UPCité)

Subjects
0301 basic medicine, cardiomyopathies, medicine.medical_specialty, lcsh:Medicine, 030204 cardiovascular system & hematology, 030105 genetics & heredity, Article, 03 medical and health sciences, 0302 clinical medicine, [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, Internal medicine, History of depression, Medicine, Prospective cohort study, predictive genetic testing, Genetic testing, hereditary heart diseases, medicine.diagnostic_test, business.industry, lcsh:R, distress, Retrospective cohort study, social, General Medicine, anxiety, Family life, 3. Good health, Distress, [SDV.MHEP.PSM]Life Sciences [q-bio]/Human health and pathology/Psychiatrics and mental health, Anxiety, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, psychological, medicine.symptom, business, Psychosocial
Abstract

Predictive genetic testing (PGT) is offered to asymptomatic relatives at risk of hereditary heart disease, but the impact of result disclosure has been little studied. We evaluated the psychosocial impacts of PGT in hereditary heart disease, using self-report questionnaires (including the State-Trait Anxiety Inventory) in 517 adults, administered three times to the prospective cohort (PCo: n = 264) and once to the retrospective cohort (RCo: n = 253). The main motivations for undergoing PGT were &ldquo, to remove doubt&rdquo, and &ldquo, for their children&rdquo, The level of anxiety increased between pre-test and result appointments (p &lt, 0.0001), returned to baseline after the result (PCo), and was moderately elevated at 4.4 years (RCo). Subjects with a history of depression or with high baseline anxiety were more likely to develop anxiety after PGT result (p = 0.004 and p &lt, 0.0001, respectively), whatever it was. Unfavourable changes in professional and/or family life were observed in 12.4% (PCo) and 18.7% (RCo) of subjects. Few regrets about PGT were expressed (0.8% RCo, 2.3% PCo). Medical benefit was not the main motivation, which emphasises the role of pre/post-test counselling. When PGT was performed by expert teams, the negative impact was modest, but careful management is required in specific categories of subjects, whatever the genetic test result.

Published
2020
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3. What can we learn from cardiac and genetic screening of relatives in families with sacomeric hypertrophic cardiomyopathy?

Author

Aurélien Palmyre, F. Ader, S. Mallet, Marc Sirol, P. Charron, Nicolas Mansencal, Olivier Dubourg, Stéphanie Staraci, J. Pruny, and P Richard

Subjects
education.field_of_study, medicine.medical_specialty, medicine.diagnostic_test, business.industry, Population, Hypertrophic cardiomyopathy, medicine.disease, Penetrance, Sudden death, Sudden cardiac death, Internal medicine, cardiovascular system, medicine, Cardiology, MYH7, cardiovascular diseases, Family history, Cardiology and Cardiovascular Medicine, education, business, Genetic testing
Abstract

Background Hypertrophic cardiomyopathy (HCM) is a genetic disease with delayed cardiac expression. Family screening strategy includes cardiac screening that may be guided by predictive genetic testing (PGT). However, little is known about the impact of PGT and the risk factors present at the very early stage of the disease. Purpose Our study aims to evaluate the impact of predictive genetic testing on the rate of initiation of cardiac screening, to estimate the penetrance of HCM and to determine the frequency of risk factors (RF) for sudden cardiac death in individuals at preclinical stage without HCM. Results We studied 60 consecutive relatives in a single center (31 women and 29 men, mean age: 34 ± 16.3 years) without history of HCM before genetic testing and who were mutation carriers after PGT. Cardiac screening was initiated before PGT in only 37%, and was started after PGT in 63%. Echocardiographic criteria for HCM were observed in 17% (28% of men but 6% of women, 17% of MYH7 mutation carriers but 0% in MYBPC3 carriers). Among mutation carriers without hypertrophy (n = 50), 1 had non-sustained ventricular tachycardia, 2 had non-explained syncope and 5 presented with family history of sudden death. In addition, 14% had dilated left atrium, 2% a high risk mutation and 8% practiced intense physical activity. Moreover, 10% (2/21) of carriers who performed MRI had cardiac fibrosis and 3% (1/32) of carriers who performed Holter monitoring had significant premature ventricular beat (PVB > 240/day). Conclusion The assessment of HCM causal mutations in relatives seems to be an important step to initiate cardiac screening. The penetrance of HCM seems to be higher in the male population and in MYH7 rather than in other genes mutation carriers. Mutations carriers at a preclinical stage without hypertrophy may have individual risk factors of sudden cardiac death. Further study of a larger population may be useful to confirm these results.

Published
2021
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4. P891Psycho-social impact of predictive genetic testing in hereditary heart diseases (PREDICT Study)

Author

Sandrine Brice, Carole Maupain, Marcela Gargiulo, Annick Toutain, A.C. Brehin, Estelle Gandjbakhch, Stéphanie Staraci, P. Richard, Sylvie Odent, Aurélien Palmyre, Alexandre Moerman, P. Charron, S. Tezenas du Montcel, Céline Bordet, and I Bertrand

Subjects
Family relationship, Genetics, medicine.diagnostic_test, business.industry, Social impact, Cardiomyopathy, Regret, medicine.disease, Channelopathy, Mutation (genetic algorithm), medicine, Anxiety, medicine.symptom, Cardiology and Cardiovascular Medicine, business, Genetic testing
Abstract

Introduction Hereditary heart diseases are most often characterized by autosomal dominant inheritance and delayed cardiac expression. Predictive genetic testing is offered to asymptomatic relatives to allow targeted medical care with early therapeutics in order to reduce the risk of complications. Psychological issues and socio-professional impact of predictive testing are complex and have been poorly studied. The aim of this study was to evaluate the psychological and socio-professional impact of predictive genetic testing in hereditary heart diseases through a prospective and retrospective study. Patients and methods This multicentric French study involved 20 expert centers in hereditary heart diseases. We included 517 adult relatives (42.3±16.7 years, 60.6% females) who performed predictive genetic testing (prospective study: N=264, retrospective study: N=253). The opinion and experience were collected via auto-questionnaires, at various moments in the prospective study, with different items and validated scales (STAI: score for anxiety and IES: impact of event). Results In the prospective study, family history was characterized by cardiomyopathy (88.4%) and channelopathies (11.6%). The main motivations for performing the test were: “to remove doubt” (65.3%), “for children” (64.0%), “to benefit from medical supervision” (34.9%). A mutation was present in 39.4% of relatives. No regret was expressed after testing (only 2.3% regrets). The result did not lead to a socio-professional change or family relationship change in 60.7%. Among those who had a change, it was perceived as unfavorable for only 3%. A change in socio-professional status and/or family relationship was mainly related to the result of genetic testing (p Conclusions Our results show that contrary to a widespread opinion, the medical benefit was not the main motivation for predictive genetic testing. In most cases, no or marginal adverse psychological and socio-professional impact of genetic testing was observed when performed by a team expert in predictive testing. However careful management is required to identify and manage subjects at risk for increased anxiety or socio-professional change.

Published
2019
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5. Prenatal molecular diagnosis in RASA1-related disease

Author

Philippe Charron, Stéphanie Staraci, Mélanie Eyries, Pascal Lacombe, Philippe Dufour, Florent Soubrier, Marie-Victoire Senat, Augustin Ozanne, Thierry Chinet, and Aurélien Palmyre

Subjects
0301 basic medicine, Adult, Male, medicine.medical_specialty, Pediatrics, Context (language use), Prenatal diagnosis, Disease, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Prenatal Diagnosis, medicine, Humans, Genetic Testing, Brain abscess, Stroke, Genetics (clinical), Genetic testing, medicine.diagnostic_test, business.industry, Obstetrics and Gynecology, Autosomal dominant trait, p120 GTPase Activating Protein, medicine.disease, Penetrance, Surgery, 030104 developmental biology, Female, business, 030217 neurology & neurosurgery
Abstract

RASA1-related disease is a rare autosomal dominant disease characterized by capillary malformations, arteriovenous malformations (AVMs), and/or arteriovenous fistulas (AFVs). Penetrance is nearly complete and vascular malformations may cause serious complications such as organ injury due to oxygenation disorder, brain abscess, hemorrhage, and stroke. Early diagnosis is useful in order to discuss optimal management, including AVMs/AVFs embolization or surgical procedures, and try to prevent some of the complications. In this context, molecular testing of RASA1 gene mutation in relatives may help to better manage the family. All arteriovenous malformations are however not accessible to such procedures. In addition, these therapeutic procedures may result in potential side effects and complications. A couple was referred to our genetics unit and asked us for prenatal genetic testing about a RASA1 mutation. Here, we discuss about arguments that led our team to accept prenatal testing. To the best of our knowledge, no molecular prenatal diagnosis was reported until now in RASA1-related diseases. This first report of prenatal diagnosis in RASA1-related diseases may also offer perspectives for a more general discussion in the field of inherited arteriovenous malformations.

Published
2017

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