Publications by authors named "Hermann Nabi"

The perceived personal control (PPC) questionnaire serves as an instrument to assess the concept of PPC, which refers to a person's perception of their ability to achieve positive outcomes while avoiding the negative effects of a given situation. Developed and used as a patient-reported outcome measure (PROM) in genetic counseling, the PPC questionnaire has been translated and validated in several languages, but not in French. The aim of this study was to cross-culturally adapt and validate a French version of the PPC questionnaire to evaluate genetic counseling services for hereditary breast and ovarian cancer (HBOC).

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The prevailing biomarker employed for prostate cancer (PCa) screening and diagnosis is the prostate-specific antigen (PSA). Despite excellent sensitivity, PSA lacks specificity, leading to false positives, unnecessary biopsies and overdiagnosis. Consequently, PSA is increasingly less used by clinicians, thus underscoring the imperative for the identification of new biomarkers.

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Risk-stratified breast screening has been proposed as a strategy to overcome the limitations of age-based screening. A prospective cohort study was undertaken within the PERSPECTIVE I&I project, which will generate the first Canadian evidence on multifactorial breast cancer risk assessment in the population setting to inform the implementation of risk-stratified screening. Recruited females aged 40-69 unaffected by breast cancer, with a previous mammogram, underwent multifactorial breast cancer risk assessment.

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Article Synopsis
  • Inter-professional collaboration can enhance access to and the quality of oncogenetic services, according to a scoping review that explores existing models of collaboration in this field.
  • The review identified 165 publications detailing 136 unique interventions, highlighting that collaboration typically occurs during risk assessment and genetic counseling, but many lacked detailed information on these collaborative efforts.
  • It calls for more robust research to evaluate the effectiveness of these models and introduces a proposed definition, logic model, and typology to guide future advancements.
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Objective: This study investigated if fear of cancer recurrence (FCR) levels and the proportion of women having a clinical level of FCR differed by whether women had or had not experienced disruptions in their cancer tests and treatments due to the pandemic.

Methods: We conducted a mixed-methods study between November 2020 and March 2021 among women diagnosed with breast cancer in the previous five years at the time of their entry in the study. Women completed a questionnaire online assessing disruptions in breast cancer tests and treatments due to the pandemic and the severity subscale of the Fear of Cancer Recurrence Inventory.

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Single nucleotide polymorphisms (SNPs) in the form of a polygenic risk score (PRS) have emerged as a promising factor that could improve the predictive performance of breast cancer (BC) risk prediction tools. This study aims to appraise and critically assess the current evidence on these tools. Studies were identified using Medline, EMBASE and the Cochrane Library up to November 2022 and were included if they described the development and/ or validation of a BC risk prediction model using a PRS for women of the general population and if they reported a measure of predictive performance.

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Given the controversy over the effectiveness of age-based breast cancer (BC) screening, offering risk-stratified screening to women may be a way to improve patient outcomes with detection of earlier-stage disease. While this approach seems promising, its integration requires the buy-in of many stakeholders. In this cross-sectional study, we surveyed Canadian healthcare professionals about their views and attitudes toward a risk-stratified BC screening approach.

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Risk prediction models hold great promise to reduce the impact of cancer in society through advanced warning of risk and improved preventative modalities. These models are evolving and becoming more complex, increasingly integrating genetic screening data and polygenic risk scores as well as calculating risk for multiple types of a disease. However, unclear regulatory compliance requirements applicable to these models raise significant legal uncertainty and new questions about the regulation of medical devices.

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A polygenic risk score (PRS) quantifies the aggregated effects of common genetic variants in an individual. A 'personalised breast cancer risk assessment' combines PRS with other genetic and nongenetic risk factors to offer risk-stratified screening and interventions. Large-scale studies are evaluating the clinical utility and feasibility of implementing risk-stratified screening; however, General Practitioners' (GPs) views remain largely unknown.

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Article Synopsis
  • The study aimed to assess how many randomized controlled trials (RCTs) reported the number of patients evaluated for eligibility before randomization, focusing on research published between 2013 and 2015 in major oncology journals.
  • Out of 456 reviewed RCTs, 236 (51.8%) provided information on patient eligibility and 184 of those (78%) detailed reasons for patient exclusion.
  • The findings suggest that while most trials included flow diagrams, only a minority discussed the generalizability of results, indicating a need for better adherence to reporting guidelines to improve clarity on trial applicability.
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Introduction: In a context of limited genetic specialists, collaborative models have been proposed to ensure timely access to high quality oncogenetic services for individuals with inherited cancer susceptibility. Yet, extensive variability in the terminology used and lack of a clear understanding of how interprofessional collaboration is operationalised and evaluated currently constrains the development of a robust evidence base on the value of different approaches used to optimise access to these services. To fill in this knowledge gap, this scoping review aims to systematically unpack the nature and extent of collaboration proposed by these interventions, and synthesise the evidence available on their implementation, effectiveness and economic impact.

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We appraised the scope of medical genetics and genomics concepts covered in the pre-clerkship programs of Canadian faculties of medicine through an analysis of course objectives. All course objectives linked to medical genetics and genomics in pre-clerkship programs of Canadian faculties of medicine were compiled. From this, the fraction of objectives dedicated to medical genetics and genomics was calculated.

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Article Synopsis
  • Health care professionals must actively engage in cancer prevention strategies, but this study found many lack familiarity with polygenic risk scores (PRS) and knowledge about risk-stratified breast cancer screening.
  • A survey of 593 professionals showed that a significant number were unfamiliar with PRS, with 61% feeling they lacked adequate knowledge for effective BC screening.
  • Most participants expressed a need for more training, preferring online courses and webinars for continuing professional development.
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Health professionals not specialized in genetics are expected to take an increasing role in genetic services delivery. This article aims to identify legal and ethical challenges related to a collaborative oncogenetics service model, where non-genetic health professionals provide genetic services to patients. Through a scoping literature review, we identified issues to the provision of hereditary breast and ovarian cancer, or other hereditary adult cancers, genetic testing under this model.

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Breast cancer (BC) remains a major public health issue worldwide [...

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Documenting a patient's family history of cancer is useful in assessing their predisposition to some types of hereditary cancers. A group of nurses working with cancer patients were surveyed, by way of a questionnaire, to determine their level of knowledge about oncogenetics, describe various issues related to their capacity to identify, refer and support individuals with a hereditary risk of cancer, and explore their interest in continuing education on this topic. The findings show limited knowledge and a low sense of competence among the participating nurses, as well as a lack of access to university and continuing education programs in this field.

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Article Synopsis
  • - In risk-stratified cancer screening, different risk factors are used to categorize individuals into specific risk groups, providing tailored screening recommendations based on their estimated absolute cancer risk.
  • - Absolute risk can be evaluated as a lifetime risk or a shorter-term risk, but many guidelines currently use age-independent thresholds for identifying high-risk women, which can lead to misclassification.
  • - The study suggests that using age-dependent risk thresholds would improve the identification of high-risk women for screening, thereby ensuring appropriate recommendations for both younger and older women.
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Gene expression profiling tests such as the Oncotype DX (ODX) 21-gene recurrence score (RS) assay is increasingly used in clinical practice to predict the risk of recurrence and support treatment planning for early-stage breast cancer (BC). However, this test has some disadvantages such as a high cost and a long turnaround time to get results, which may lead to disparities in access. We aim to identify clinicopathological factors associated with ODX RS in women with early-stage BC.

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(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).

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Article Synopsis
  • The study investigates how Canadian women's understanding of genetic discrimination (GD) affects their willingness to participate in breast cancer screening programs informed by genetic risk assessments.
  • It reveals that a significant portion of women (about 34.7%) are very concerned about potential misuse of their health information by employers and insurance companies, suggesting anxiety over GD.
  • The findings highlight a gap in knowledge regarding legal protections against GD and emphasize the need for better public education to improve participation in genetic testing for breast cancer risk assessment.
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Early detection of breast cancer through screening reduces breast cancer mortality. The benefits of screening must also be considered within the context of potential harms (e.g.

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Background: Data on the modalities of disclosing genomic secondary findings (SFs) remain scarce. We explore cancer patients' and the general public's perspectives about disclosing genomic SFs and the modalities of such disclosure.

Methods: Sixty-one cancer patients (n = 29) and members of the public (n = 32) participated in eight focus groups in Montreal and Quebec City, Canada.

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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.

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