1,721,111 research outputs found
Public perspectives on healthcare professional-directed communication of hereditary genetic risks: a mixed-method systematic review
No full text: Genetic testing has revolutionized the identification of individuals at increased risk for various hereditary conditions, enabling early intervention and preventive measures. However, effective cascade counseling and testing depends on successful intra-familial communication. This mixed-method systematic review aimed to explore the general population's perspectives and preferences regarding the communication of potential genetic risk information by healthcare professionals. This study adhered to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines and was registered in the International Prospective Register of Systematic Reviews database (CRD42024532829). A comprehensive search of six databases yielded 17,292 records. After removing duplicates and screening for relevance, nine studies were included in the final analysis, conducted across diverse Western countries using both qualitative and quantitative designs. Results indicated a preference for healthcare-mediated communication, particularly through formal methods as letters, valued for their clarity and reliability. The role of family-mediated communication is nuanced, influenced by interpersonal relationship quality and the emotional burden of disclosing sensitive information. Ethical and legal considerations highlighted public support for overriding confidentiality in treatable conditions, while emphasizing respect for individual privacy and autonomy in untreatable conditions. This review underscores the importance of understanding public preferences to develop tailored communication strategies that balance professional involvement with respect for individual and familial dynamics. Healthcare professionals should be trained to provide empathetic, clear, and accurate information, considering the specific needs and contexts of at-risk individuals
Impact of Genetic Counseling in Women with a Family History of Breast Cancer in Italy
No full textAs the impact of breast cancer (BC) risk assessment in asymptomatic women with a family history of BC had never been explored in Italy, we performed a study on a retrospective series of women who had undergone BC risk assessment. To this aim, a semi-structured telephone interview was administered to 82 women. Most participants considered the information received as clear (96.2 %) and helpful (76.8 %). Thirty-eight (46.3 %) stated that their perceived risk of BC had changed after the counseling: for 40.2 % it had decreased, for 6.1 % increased; however, women highly overestimating their risk at the baseline (≥4-fold) failed to show improvements in risk perception accuracy. Sixty-six women (80.5 %) stated they had followed the recommended surveillance, while 19.5 % had not, mainly due to difficulties in arranging examinations. Most women (89.0 %) had shared the information with their relatives, with 57.3 % reporting other family members had undertaken the recommended surveillance. BC risk assessment was associated with high rates of satisfaction and had a favorable impact on risk perception in a subgroup of women. The impact on surveillance adhesion extended to relatives. Organized programs for identification and surveillance may help identify a larger fraction of at-risk women and overcome the reported difficulties in arranging surveillance
Light and shade of multigene panel testing for hereditary cancer: Examples from the real world
No full textBackground: MultiGene Panel Testing (MGPT) allows for simultaneous analysis of multiple cancer-related genes, enabling the identification of pathogenic variants in genes beyond those that would be analyzed based on a specific phenotype. However, a relevant fraction of variants so identified has little or no clinical utility, raising the need for guidance in selecting genes to include in panels and for interpretation of the results. Methods: Taking advantage of seven real paradigmatic cases, we analyze some of the scenarios where MGPT constitutes a meaningful advantage for diagnosis, as well as situations where panel use increases the risk of misinterpretation or complicates result communication and management. Results: The use of MGPT facilitates prompt diagnosis in carriers of variants in rare genes (such as NTHL1), which would be diagnosed at a later stage if using a step-wise approach, as well as in carriers of bi-allelic variants (for instance in BRCA or MMR genes) leading to atypical phenotypes. Conversely, finding variants in moderate penetrance genes, such as ATM and CHEK2, may complicate interpretation and clinical management. Furthermore, for some of the genes included in MGPT, for instance NBN, the association with cancer risk has been questioned, leading to potentially misleading results. Conclusion: Taken together, the cases here described provide some examples of the benefits, as well as risks, involved by the use of MGPT, which may increase awareness among users and reinforce the need for establishing clear recommendations on genes to be included and management of the results
Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Developing a questionnaire to explore lay people’s preferences for communicating hereditary conditions within families: insights from a cognitive interview study
Full text linkCognitive interviews are a valuable qualitative method for developing and refining survey instruments, particularly on
complex topics such as genetic health. They help address misunderstandings between intended meanings and respondent
interpretations, enhancing data validity and ensuring comprehensibility. This study aimed to refine a questionnaire exploring
the attitudes and preferences of the Italian general population regarding the communication of potential hereditary conditions
within families. Through iterative testing, issues related to questionnaire instructions, question wording, and the sensitive
nature of the topics were identified and addressed. Most concerns emerged in the first round of cognitive interviews, while
the second round only required minor refinements. The qualitative analysis identified four key themes reflecting participants’
challenges in understanding genetic information: (1) difficulties with genetic terminology, including gene names and scientific
jargon, which induced anxiety and hindered comprehension; (2) ambiguities surrounding the terms "genetic testing" and
"family," with confusion about the nature of genetic testing and the scope of "family" in genetic contexts; (3) misinterpretations
of "genetic risk" as an existing disease diagnosis rather than a probabilistic concept, leading to misunderstandings about
the implications of genetic predisposition; and (4) conflation of "authorization" and "responsibility" in genetic communication,
further complicated by uncertainty regarding privacy and confidentiality. Findings from this study informed targeted
modifications to the questionnaire to enhance its clarity and accessibility. Our study highlights the importance of cognitive
interviewing in refining survey tools on genetic communication, ensuring that such instruments effectively capture public
perceptions and facilitate informed decision-making
Variations on the Author
Full text link“Variations on the Author” discusses two of Eduardo Coutinho’s recent films (Um Dia na Vida, from 2010, and Últimas Conversas, posthumously released in 2015) and their contribution to the general question of documentary authorship. The director’s filmography is characterized by a consistent yet self-effacing form of authorial self-inscription: Coutinho often features as an interviewer that rather than express opinions propels discourses; an interviewer that is good at listening. This mode of self-inscription characterizes him as an author who is not expressive but who is nonetheless markedly present on the screen. In Um Dia na Vida, however, Coutinho is completely absent form the image, while Últimas Conversas, on the contrary, includes a confessional prologue that moves the director from the margins to the center of his films. This article examines the ways in which these works stand out in the filmography of a director who offers new insights into the notion of cinematic authorship
Long read sequencing on its way to the routine diagnostics of genetic diseases
Full text link: The clinical application of technological progress in the identification of DNA alterations has always led to improvements of diagnostic yields in genetic medicine. At chromosome side, from cytogenetic techniques evaluating number and gross structural defects to genomic microarrays detecting cryptic copy number variants, and at molecular level, from Sanger method studying the nucleotide sequence of single genes to the high-throughput next-generation sequencing (NGS) technologies, resolution and sensitivity progressively increased expanding considerably the range of detectable DNA anomalies and alongside of Mendelian disorders with known genetic causes. However, particular genomic regions (i.e., repetitive and GC-rich sequences) are inefficiently analyzed by standard genetic tests, still relying on laborious, time-consuming and low-sensitive approaches (i.e., southern-blot for repeat expansion or long-PCR for genes with highly homologous pseudogenes), accounting for at least part of the patients with undiagnosed genetic disorders. Third generation sequencing, generating long reads with improved mappability, is more suitable for the detection of structural alterations and defects in hardly accessible genomic regions. Although recently implemented and not yet clinically available, long read sequencing (LRS) technologies have already shown their potential in genetic medicine research that might greatly impact on diagnostic yield and reporting times, through their translation to clinical settings. The main investigated LRS application concerns the identification of structural variants and repeat expansions, probably because techniques for their detection have not evolved as rapidly as those dedicated to single nucleotide variants (SNV) identification: gold standard analyses are karyotyping and microarrays for balanced and unbalanced chromosome rearrangements, respectively, and southern blot and repeat-primed PCR for the amplification and sizing of expanded alleles, impaired by limited resolution and sensitivity that have not been significantly improved by the advent of NGS. Nevertheless, more recently, with the increased accuracy provided by the latest product releases, LRS has been tested also for SNV detection, especially in genes with highly homologous pseudogenes and for haplotype reconstruction to assess the parental origin of alleles with de novo pathogenic variants. We provide a review of relevant recent scientific papers exploring LRS potential in the diagnosis of genetic diseases and its potential future applications in routine genetic testing
Appropriate Similarity Measures for Author Cocitation Analysis
Full text linkWe provide a number of new insights into the methodological discussion about author cocitation analysis. We first argue that the use of the Pearson correlation for measuring the similarity between authors’ cocitation profiles is not very satisfactory. We then discuss what kind of similarity measures may be used as an alternative to the Pearson correlation. We consider three similarity measures in particular. One is the well-known cosine. The other two similarity measures have not been used before in the bibliometric literature. Finally, we show by means of an example that our findings have a high practical relevance.information science;Pearson correlation;cosine;similarity measure;author cocitation analysis
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