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1.
Healthcare (Basel) ; 9(9)2021 Sep 02.
Artigo em Inglês | MEDLINE | ID: mdl-34574919

RESUMO

(1) Background: The Genetic Counseling Satisfaction Scale (GCSS) is a widely used tool to evaluate patient satisfaction. To our knowledge, a validated French-language version of this tool is not yet available. This article reports on the cross-cultural adaptation and validation of a French version of the Genetic Counseling Satisfaction Scale (GCSS) to evaluate genetic counseling services for patient consultation in hereditary breast and ovarian cancer (HBOC). (2) Methods: The scale was culturally adapted following guidelines from Beaton et al. (2000). Cognitive interviews were conducted to ensure items were understood according to the intended meaning. The internal consistency, floor and ceiling effects, and testing of group differences were assessed using a sample of 172 patients who attended a pretest group genetic counseling session. (3) Results: Participants understood all items according to the intended meaning. The internal consistency was high for the total scale (0.90) and for the corrected item-to-total correlations (varying between 0.62 and 0.78). No floor or ceiling effects were observed. Group difference analyses generally followed expectations. (4) Conclusion: This process generated a French version of the GCSS that is clearly understood by patients, and has psychometric properties adequately in line those reported for its original English version.

2.
Cancers (Basel) ; 13(11)2021 May 31.
Artigo em Inglês | MEDLINE | ID: mdl-34072979

RESUMO

Medical genetic services are facing an unprecedented demand for counseling and testing for hereditary breast and ovarian cancer (HBOC) in a context of limited resources. To help resolve this issue, a collaborative oncogenetic model was recently developed and implemented at the CHU de Québec-Université Laval; Quebec; Canada. Here, we present the protocol of the C-MOnGene (Collaborative Model in OncoGenetics) study, funded to examine the context in which the model was implemented and document the lessons that can be learned to optimize the delivery of oncogenetic services. Within three years of implementation, the model allowed researchers to double the annual number of patients seen in genetic counseling. The average number of days between genetic counseling and disclosure of test results significantly decreased. Group counseling sessions improved participants' understanding of breast cancer risk and increased knowledge of breast cancer and genetics and a large majority of them reported to be overwhelmingly satisfied with the process. These quality and performance indicators suggest this oncogenetic model offers a flexible, patient-centered and efficient genetic counseling and testing for HBOC. By identifying the critical facilitating factors and barriers, our study will provide an evidence base for organizations interested in transitioning to an oncogenetic model integrated into oncology care; including teams that are not specialized but are trained in genetics.

3.
J Med Genet ; 44(2): 107-21, 2007 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-16905680

RESUMO

BACKGROUND AND OBJECTIVE: In clinical settings with fixed resources allocated to predictive genetic testing for high-risk cancer predisposition genes, optimal strategies for mutation screening programmes are critically important. These depend on the mutation spectrum found in the population under consideration and the frequency of mutations detected as a function of the personal and family history of cancer, which are both affected by the presence of founder mutations and demographic characteristics of the underlying population. The results of multistep genetic testing for mutations in BRCA1 or BRCA2 in a large series of families with breast cancer in the French-Canadian population of Quebec, Canada are reported. METHODS: A total of 256 high-risk families were ascertained from regional familial cancer clinics throughout the province of Quebec. Initially, families were tested for a panel of specific mutations known to occur in this population. Families in which no mutation was identified were then comprehensively tested. Three algorithms to predict the presence of mutations were evaluated, including the prevalence tables provided by Myriad Genetics Laboratories, the Manchester Scoring System and a logistic regression approach based on the data from this study. RESULTS: 8 of the 15 distinct mutations found in 62 BRCA1/BRCA2-positive families had never been previously reported in this population, whereas 82% carried 1 of the 4 mutations currently observed in > or =2 families. In the subset of 191 families in which at least 1 affected individual was tested, 29% carried a mutation. Of these 27 BRCA1-positive and 29 BRCA2-positive families, 48 (86%) were found to harbour a mutation detected by the initial test. Among the remaining 143 inconclusive families, all 8 families found to have a mutation after complete sequencing had Manchester Scores > or =18. The logistic regression and Manchester Scores provided equal predictive power, and both were significantly better than the Myriad Genetics Laboratories prevalence tables (p<0.001). A threshold of Manchester Score > or =18 provided an overall sensitivity of 86% and a specificity of 82%, with a positive predictive value of 66% in this population. CONCLUSION: In this population, a testing strategy with an initial test using a panel of reported recurrent mutations, followed by full sequencing in families with Manchester Scores > or =18, represents an efficient test in terms of overall cost and sensitivity.


Assuntos
Proteína BRCA1/genética , Proteína BRCA2/genética , Neoplasias da Mama/genética , Mutação , Neoplasias Ovarianas/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Neoplasias da Mama/epidemiologia , Canadá/epidemiologia , Estudos de Coortes , DNA de Neoplasias/genética , Família , Feminino , França/etnologia , Amplificação de Genes , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias Ovarianas/epidemiologia , Reação em Cadeia da Polimerase , Prevalência , Análise de Regressão , Medição de Risco
4.
J Anxiety Disord ; 22(6): 1029-41, 2008 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-18164900

RESUMO

This paper assesses the psychometric properties of the French version of the Obsessive Beliefs Questionnaire (OBQ-44) and investigates whether the questionnaire discriminates between obsessive-compulsive disorder (OCD), anxious control (AC), and non-clinical control (NCC) participants. A confirmatory factor analysis suggested a poor fit of the model. An exploratory factor analysis replicated the original factor structure. The subscales were moderately intercorrelated and highly correlated with the total score. There was partial support for convergent/divergent validity of the OBQ-44. In analyses of variance comparing the three samples, the participants in the OCD sample scored significantly higher than the participants in the AC and NCC samples on all of the OBQ-44 scores. In analyses of covariance comparing the OCD and NCC samples while controlling for general distress and age, the participants with OCD scored significantly higher than the NCC participants on all of the OBQ-44 scores. Implications of the current study are discussed.


Assuntos
Transtornos Cognitivos/diagnóstico , Transtorno Obsessivo-Compulsivo/diagnóstico , Inventário de Personalidade/estatística & dados numéricos , Inquéritos e Questionários , Adulto , Análise de Variância , Transtornos de Ansiedade/diagnóstico , Transtornos de Ansiedade/psicologia , Canadá , Transtornos Cognitivos/epidemiologia , Transtornos Cognitivos/psicologia , Comorbidade , Grupos Controle , Comparação Transcultural , Análise Fatorial , Feminino , França , Humanos , Masculino , Transtorno Obsessivo-Compulsivo/epidemiologia , Transtorno Obsessivo-Compulsivo/psicologia , Análise de Componente Principal , Escalas de Graduação Psiquiátrica/estatística & dados numéricos , Psicometria , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Tradução
5.
Behav Res Ther ; 41(6): 681-700, 2003 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-12732376

RESUMO

Individuals with obsessive-compulsive disorder (OCD) frequently report uncomfortable sensations of things not being just right ("not just right experiences"; NJREs) and a need to ritualize until they quiet these sensations. However, very little work has been conducted to empirically examine the nature and characteristics of this phenomenon. In this paper, we present two studies that systematically examine NJREs in large undergraduate samples. In Study 1, NJREs were shown to be related to both OCD features and maladaptive domains of perfectionism. In Study 2, NJREs were again significantly related to OCD features. Further, NJREs were shown to have particularly strong relationships with specific OCD symptom clusters (e.g., checking, ordering). Finally, NJREs were significantly more strongly correlated with features of OCD than symptoms from other domains of psychopathology (e.g., social anxiety, trait anxiety, worry, depression). General conclusions are drawn, and future directions are discussed.


Assuntos
Ansiedade/etiologia , Transtorno Obsessivo-Compulsivo/psicologia , Transtorno da Personalidade Compulsiva/psicologia , Medo , Feminino , Humanos , Inventário de Personalidade , Autoimagem , Inquéritos e Questionários , Pensamento
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