Journal of Community Genetics最新文献_第3页

Correction: Improving the communication of multifactorial cancer risk assessment results for different audiences: a co-design process. 更正：针对不同受众改进多因素癌症风险评估结果的传播：共同设计过程。

IF 1.5

Journal of Community Genetics Pub Date : 2024-10-01 DOI: 10.1007/s12687-024-00745-4

Francisca Stutzin Donoso, Tim Carver, Lorenzo Ficorella, Nichola Fennell, Antonis C Antoniou, Douglas F Easton, Marc Tischkowitz, Fiona M Walter, Juliet A Usher-Smith, Stephanie Archer

引用次数: 0

The importance of geographic and sociodemographic aspects in the characterization of mucopolysaccharidoses: a case series from Ceará state (Northeast Brazil). 地理和社会人口因素对粘多糖病特征的重要性：塞阿拉州（巴西东北部）的病例系列。

IF 1.5

Journal of Community Genetics Pub Date : 2024-10-01 Epub Date: 2024-08-19 DOI: 10.1007/s12687-024-00718-7

Augusto César Cardoso-Dos-Santos, Luiza Monteavaro Mariath, Franciele Trapp, Ana Carolina Brusius Facchin, Sandra Leistner, Francyne Kubaski, Roberto Giugliani, Lavinia Schuler-Faccini, Erlane Marques Ribeiro

{"title":"The importance of geographic and sociodemographic aspects in the characterization of mucopolysaccharidoses: a case series from Ceará state (Northeast Brazil).","authors":"Augusto César Cardoso-Dos-Santos, Luiza Monteavaro Mariath, Franciele Trapp, Ana Carolina Brusius Facchin, Sandra Leistner, Francyne Kubaski, Roberto Giugliani, Lavinia Schuler-Faccini, Erlane Marques Ribeiro","doi":"10.1007/s12687-024-00718-7","DOIUrl":"10.1007/s12687-024-00718-7","url":null,"abstract":"Geographic and sociodemographic aspects may influence the natural history and epidemiology of mucopolysaccharidoses (MPS). The main objective in this work was to evaluate the clinical, molecular, and geographic profile of MPS in a population from Ceará (Northeast Brazil). For this, we have performed a descriptive cross-sectional study based on clinical evaluation, interviews with patients and/or family members, and review of medical records of 76 MPS patients. MPS II was the most common type, with the most affected individuals presenting missense pathogenic variants. Patients with MPS I proved to be the most severe clinical phenotype, presenting the first symptoms (mean: 7.1 months; SD = 4.5) and being diagnosed earlier (2.2 years; SD = 2.1) in comparison with the other types. In addition, we have shown that 13 individuals with MPS VI were born of consanguineous marriages in small, nearby cities, in a place where geographical isolation, consanguinity, and clusters of genetic diseases were previously reported. Ten of these individuals (at least, seven different families) presented a rare pathogenic variant in the ARSB gene, c.1143-8T > G in homozygosity, previously reported only among Iberian and South American patients. The results presented here provide a comprehensive picture of MPS in an important state of the Brazilian Northeast, a region that concentrates many risk factors for rare genetic diseases, such as endogamy, inbreeding, and reproductive isolation. We discuss the possible evolutionary processes and biosocial dynamics that can help to explain this finding in terms of population medical genetics and public health.","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"573-580"},"PeriodicalIF":1.5,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11549260/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142001013","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Research participant perceptions of personal utility in disclosure of individual research results from genomic analysis. 研究参与者对公开基因组分析个人研究成果的个人效用的看法。

IF 1.5

Journal of Community Genetics Pub Date : 2024-10-01 Epub Date: 2024-09-18 DOI: 10.1007/s12687-024-00734-7

Brenda Bogaert, Marie-Josée Crevier, Cindy Roth, Ralf J Jox, Gaia Barazzetti

{"title":"Research participant perceptions of personal utility in disclosure of individual research results from genomic analysis.","authors":"Brenda Bogaert, Marie-Josée Crevier, Cindy Roth, Ralf J Jox, Gaia Barazzetti","doi":"10.1007/s12687-024-00734-7","DOIUrl":"10.1007/s12687-024-00734-7","url":null,"abstract":"This article elaborates research participant perspectives on the communication of individual research results from genomic analyses. While most analyses focus on how to communicate results from the perspectives of clinicians or researchers, there is insufficient data on user perspectives and how this information may be used, valued, and interpreted by patients and their families. The concept of personal utility, which considers factors related to quality of life, including on how information may impact the person's future decisions, has been shown to be particularly relevant to understand research participant perspectives and to move beyond clinical and analytic utility factors such as mortality and morbidity. This article draws from qualitative research of research participants awaiting genomic results in the case of sudden cardiac death. Our results show perspectives of personal utility in communication of genomic results, including cognitive, behavioral, and affective outcomes. Cognitive outcomes include gain of information, improved knowledge of etiology and inheritance characteristics, and curiosity for what might be found. Behavioral outcomes include being able to plan life decisions, while affective outcomes include various coping strategies used. We will also discuss the value of knowing negative results and incidental findings from the research participant's perspective. This contribution gives suggestions on best practices to guide genome analysis returns, including incorporating participant wishes on individualized communication at the consent stage; developing relational autonomy approaches; and engaging them throughout the research trajectory.","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"529-538"},"PeriodicalIF":1.5,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11549069/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142298430","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Knowledge, attitudes, and practices of primary healthcare practitioners in low- and middle-income countries: a scoping review on genetics. 中低收入国家初级保健从业人员的知识、态度和实践：遗传学范围界定综述。

IF 1.5

Journal of Community Genetics Pub Date : 2024-10-01 Epub Date: 2024-08-09 DOI: 10.1007/s12687-024-00721-y

Sarah Walters, Colleen Aldous, Helen Malherbe

{"title":"Knowledge, attitudes, and practices of primary healthcare practitioners in low- and middle-income countries: a scoping review on genetics.","authors":"Sarah Walters, Colleen Aldous, Helen Malherbe","doi":"10.1007/s12687-024-00721-y","DOIUrl":"10.1007/s12687-024-00721-y","url":null,"abstract":"Individualised treatment, including genetic services, calls for an increased role of primary healthcare practitioners (pHCPs) in diagnosing and caring for individuals with genetic conditions. PHCPs' genetics knowledge and practices must be current to ensure adequate care. A scoping review was conducted to explore peer-reviewed articles on the knowledge, attitudes, and practices (KAPs) of pHCPs concerning genetics, genetic testing, and genetic services. English-language human genetics/genomics articles published between January 1990 and April 2022 in low- and middle-income countries (LMICs) were included. Twenty-eight articles from 16 LMICs in five World Health Organisation (WHO)-defined regions met the inclusion criteria and showed a steady increase in publications, with varied contributions by region. The Eastern Mediterranean Region (EMR) contributed the most articles (n = 8), while the Western Pacific Region (WPR) had the least (n = 2). Brazil published the most articles (n = 6), while ten countries contributed one article each. Fifteen articles included knowledge, 19 included attitudes towards genetics, and eight included genetic practices. The findings indicate that pHCPs in LMICs lack knowledge of genetics and its applications despite their positive outlook towards genetic services. Barriers such as limited resources, financial constraints, and cultural or religious beliefs hinder access to genetic services. Enhancing pHCPs' genetics education is vital for improving care for those affected by genetic conditions. The scarcity of literature in LMICs emphasises the need for research on educational interventions to improve patient outcomes and family support.","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"461-474"},"PeriodicalIF":1.5,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11549072/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141907977","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Raising awareness and education of genetic testing and counseling through fotonovelas among Latina women at risk for hereditary breast and ovarian cancer. 通过摄影小说，提高有遗传性乳腺癌和卵巢癌风险的拉丁裔妇女对基因检测和咨询的认识，并对她们进行这方面的教育。

IF 1.5

Journal of Community Genetics Pub Date : 2024-10-01 Epub Date: 2024-09-06 DOI: 10.1007/s12687-024-00728-5

Rolando Barajas, Clara B Barajas, Yaideliz M Romero Ramos, Sara Gómez Trillos, Sabrina Sawhney, Claudia Campos, Alejandra Hurtado-de-Mendoza, Melissa Rotunno, Elizabeth Gillanders

{"title":"Raising awareness and education of genetic testing and counseling through fotonovelas among Latina women at risk for hereditary breast and ovarian cancer.","authors":"Rolando Barajas, Clara B Barajas, Yaideliz M Romero Ramos, Sara Gómez Trillos, Sabrina Sawhney, Claudia Campos, Alejandra Hurtado-de-Mendoza, Melissa Rotunno, Elizabeth Gillanders","doi":"10.1007/s12687-024-00728-5","DOIUrl":"10.1007/s12687-024-00728-5","url":null,"abstract":"Latinas are less likely to receive genetic counseling and genetic testing (GCT) compared to non-Latina Whites because of systemic and patient-level barriers. We developed and tested fotonovelas to increase awareness of GCT among Latinas at-risk of hereditary breast and ovarian cancer (HBOC). Content for the fotonovelas was drawn from an existing culturally targeted narrative video focused on improving GCT use among Latinas at-risk of HBOC. Using mixed methods, we interviewed cancer patients (n = 10) and their relatives (n = 10) to assess the preliminary efficacy of the fotonovelas through pre-and post-fotonovela items assessing self-rated knowledge of GCT and willingness to discuss cancer with family. Health workers (n = 10) provided feedback on the fotonovela content. McNemar's test was used to examine differences in the proportions of the outcomes pre- and post-fotonovelas. Interviews were transcribed and coded in Dedoose using a consensual qualitative research approach. Reading the fotonovelas increased self-rated knowledge of GCT by 22% (p = 0.16), from 50 to 60% in patients and from 63 to 100% among relatives. Analogously, reading the fotonovela increased willingness to talk about cancer with family by 33% (p = 0.02), from 70 to 100% in patients and from 38 to 75% in relatives. We identified six themes, some centered around the fotonovela's message, feedback, and perceived barriers to GCT. Overall, participants liked the use of fotonovelas to increase GCT awareness and cancer conversations with family. Fotonovelas could potentially be used as educational tools to increase GCT awareness and cancer conversations among Latino families at-risk of HBOC.","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"475-488"},"PeriodicalIF":1.5,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11549277/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142141381","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Genetic testing perspectives in Pakistani population: a survey on knowledge, attitudes, awareness, and concerns. 巴基斯坦人对基因检测的看法：一项关于知识、态度、认识和担忧的调查。

IF 1.5

Journal of Community Genetics Pub Date : 2024-10-01 DOI: 10.1007/s12687-024-00719-6

Mohammad Uzair, Rida Fatima, Shafia Rafiq, Maimoona Jabeen, Hammad Qaiser, Muhammad Arshad, Shahid Bashir

{"title":"Genetic testing perspectives in Pakistani population: a survey on knowledge, attitudes, awareness, and concerns.","authors":"Mohammad Uzair, Rida Fatima, Shafia Rafiq, Maimoona Jabeen, Hammad Qaiser, Muhammad Arshad, Shahid Bashir","doi":"10.1007/s12687-024-00719-6","DOIUrl":"https://doi.org/10.1007/s12687-024-00719-6","url":null,"abstract":"A higher rate of consanguineous marriages is associated with the increasing prevalence of genetic disorders, imposing a significant burden on families, public health, and healthcare systems. Genetic testing facilitates the earlier detection of disease and personalized treatment approaches. Therefore, this study aims to assess knowledge, awareness, attitudes, and concerns regarding genetic testing in the Pakistani population. Participants (n = 494) were asked about factors that influence attitudes toward undergoing genetic testing. Furthermore, the study also investigates the concerns and reservations held by the Pakistani population regarding genetic testing. Participants indicated that consanguineous marriages lead to an increased risk of hereditary disorders and agreed that knowledge of genetic diseases can improve the quality of life. Almost 80% of the respondents know the term, and the majority of them know about genetic testing. 87.7% of respondents agreed to genetic screening before marriage, and 39.9% were willing to undergo genetic testing. More knowledge was significantly associated with a higher likelihood of accepting genetic testing, indicating potential acceptance if integrated into standard procedures. Those with a family history of genetic disorders were more positive in accepting genetic testing. The level of understanding regarding genetic testing also influences the concerns. Cultural or religious beliefs may also affect the decision to accept genetic testing. The survey reveals diverse opinions and knowledge levels regarding genetic testing in Pakistan. While there was generally positive interest, concerns about privacy, accuracy, and cultural factors should be addressed. Education and awareness campaigns could help improve understanding and acceptance.","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142336836","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The mentee report: outcomes from implementing a mentorship program for international genetic counseling applicants. 被指导者报告：为国际遗传咨询申请者实施指导计划的成果。

IF 1.5

Journal of Community Genetics Pub Date : 2024-10-01 Epub Date: 2024-09-09 DOI: 10.1007/s12687-024-00730-x

Arpita Neogi, Smita K Rao, Grace Kavanaugh, Tanaya Shroff, Jennifer Kennedy, Michelle F Jacobs

{"title":"The mentee report: outcomes from implementing a mentorship program for international genetic counseling applicants.","authors":"Arpita Neogi, Smita K Rao, Grace Kavanaugh, Tanaya Shroff, Jennifer Kennedy, Michelle F Jacobs","doi":"10.1007/s12687-024-00730-x","DOIUrl":"10.1007/s12687-024-00730-x","url":null,"abstract":"The first genetic counseling (GC) graduate training program was established in the United States (U.S.) in 1969 and GC is an emerging field of healthcare in many countries. Each year, at least 7% of applicants to U.S.-based GC graduate programs come from countries outside the U.S. (\"international GC applicants''). To address the unique needs of international GC applicants, volunteers from the International Special Interest Group (ISIG) of the National Society of Genetic Counselors (NSGC) launched a semi-structured mentorship program (the \"International Genetic Counseling Mentorship Program'' (IGCMP)) in 2021, which provides individualized mentorship and optional group activities for networking and learning. Fifty-two people from 19 countries signed up for the IGCMP across three application cycles. Of these, 47 were eligible to participate as mentees, and most were interested in one-on-one virtual meetings with international GCs in the U.S. (n = 41/47, 87.2%). An assessment form was sent to 17 mentees who applied to GC graduate school after participating in the first or second cycle of the IGCMP. Of the 12 responses received, 10 (83.3%) reported being extremely satisfied with their individual mentor(s), and the one-on-one meeting with a mentor was considered helpful to both the application and interview process by nine (75.0%) respondents. Importantly, feedback about program improvement revealed an interest in connecting with additional international applicants and mentors and all respondents expressed interest in receiving mentorship throughout graduate school. Future directions include collaborating with other mentorship and graduate programs to further enhance support for international applicants.","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"489-498"},"PeriodicalIF":1.5,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11549272/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142156324","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Parental perspectives regarding the return of genomic research results in neurodevelopmental disorders in South Africa: anticipated impact and preferences. 南非家长对返还神经发育障碍基因组研究成果的看法：预期影响和偏好。

IF 1.5

Journal of Community Genetics Pub Date : 2024-10-01 Epub Date: 2024-08-02 DOI: 10.1007/s12687-024-00723-w

Angelique Diedericks, Zandré Bruwer, Nakita Laing, Emma Eastman, Jantina De Vries, Charles R Newton, Amina Abubakar, Elise B Robinson, Kirsten A Donald

{"title":"Parental perspectives regarding the return of genomic research results in neurodevelopmental disorders in South Africa: anticipated impact and preferences.","authors":"Angelique Diedericks, Zandré Bruwer, Nakita Laing, Emma Eastman, Jantina De Vries, Charles R Newton, Amina Abubakar, Elise B Robinson, Kirsten A Donald","doi":"10.1007/s12687-024-00723-w","DOIUrl":"10.1007/s12687-024-00723-w","url":null,"abstract":"Few policies and little research exist regarding the disclosure of genomic results to research participants in Africa. As understanding participant preferences would be pivotal to the success of the feedback process, this study set out to address this issue by engaging with enrolled participants from an ongoing genomics research project on neurodevelopmental disorders with the aim to assess the anticipated impact of receiving pertinent results and explore the preferences for feedback in a South African context. Twelve semi-structured interviews were conducted with 17 parents of children participating in the research study. Transcribed interview data and observational notes were analysed using thematic analysis and framework matrices. Participants linked their own meaning to the impact of receiving a pertinent result and perceived the information as useful for reasons other than only clinical utility. These included closure, improved management of their child's condition and information regarding recurrence risks. In terms of preferences for feedback, an in-person result delivery session, conducted by a member of the study team or medical professional familiar with their child was preferred. In addition, participants felt a sense of ownership over their blood or their contribution to the research study, finding meaning even in non-pertinent results. These findings provide insight into the type of discussions that may be valuable in enabling the development of best practices and guidelines for the return of individual genetic research results, in a culturally appropriate manner, within South African communities.","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"539-548"},"PeriodicalIF":1.5,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11549274/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141876349","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Improving the communication of multifactorial cancer risk assessment results for different audiences: a co-design process. 针对不同受众改进多因素癌症风险评估结果的传播：共同设计过程。

IF 1.5

Journal of Community Genetics Pub Date : 2024-10-01 Epub Date: 2024-09-25 DOI: 10.1007/s12687-024-00729-4

Francisca Stutzin Donoso, Tim Carver, Lorenzo Ficorella, Nichola Fennell, Antonis C Antoniou, Douglas F Easton, Marc Tischkowitz, Fiona M Walter, Juliet A Usher-Smith, Stephanie Archer

{"title":"Improving the communication of multifactorial cancer risk assessment results for different audiences: a co-design process.","authors":"Francisca Stutzin Donoso, Tim Carver, Lorenzo Ficorella, Nichola Fennell, Antonis C Antoniou, Douglas F Easton, Marc Tischkowitz, Fiona M Walter, Juliet A Usher-Smith, Stephanie Archer","doi":"10.1007/s12687-024-00729-4","DOIUrl":"10.1007/s12687-024-00729-4","url":null,"abstract":"Background: Multifactorial cancer risk prediction tools, such as CanRisk, are increasingly being incorporated into routine healthcare. Understanding risk information and communicating risk is challenging and healthcare professionals rely substantially on the outputs of risk prediction tools to communicate results. This work aimed to produce a new CanRisk report so users can directly access key information and communicate risk estimates effectively.Methods: Over a 13-month period, we led an 8-step co-design process with patients, the public, and healthcare professionals. Steps comprised 1) think aloud testing of the original CanRisk report; 2) structured feedback on the original report; 3) literature review; 4) development of a new report prototype; 5) first round of structured feedback; 6) updating the new report prototype; 7) second round of structured feedback; and 8) finalising and publishing the new CanRisk report.Results: We received 56 sets of feedback from 34 stakeholders. Overall, the original CanRisk report was not suitable for patients and the public. Building on the feedback, the new report has an overview of the information presented: section one summarises key information for individuals; sections two and three present information for healthcare professionals in different settings. New features also include explanatory text, definitions, graphs, keys and tables to support the interpretation of the information.Discussion: This co-design experience shows the value of collaboration for the successful communication of complex health information. As a result, the new CanRisk report has the potential to better support shared decision-making processes about cancer risk management across clinical settings.","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"499-515"},"PeriodicalIF":1.5,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11549070/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142336838","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

How to communicate and what to disclose to participants in a recall-by-genotype research approach: a multistep empirical study. 在按基因型回忆的研究方法中，如何与参与者沟通以及披露哪些信息：一项多步骤实证研究。

IF 1.5

Journal of Community Genetics Pub Date : 2024-09-26 DOI: 10.1007/s12687-024-00733-8

Katharina Tschigg, Luca Consoli, Norbert Brüggemann, Andrew A Hicks, Ciara Staunton, Deborah Mascalzoni, Roberta Biasiotto

{"title":"How to communicate and what to disclose to participants in a recall-by-genotype research approach: a multistep empirical study.","authors":"Katharina Tschigg, Luca Consoli, Norbert Brüggemann, Andrew A Hicks, Ciara Staunton, Deborah Mascalzoni, Roberta Biasiotto","doi":"10.1007/s12687-024-00733-8","DOIUrl":"https://doi.org/10.1007/s12687-024-00733-8","url":null,"abstract":"Recall-by-genotype (RbG) is a bottom-up approach using existing genetic data to design follow-up stratified studies. Genetic information may be partially disclosed at invitation, thus raising ethical issues which call for defined best practices for disclosure and communication in RbG approaches. Within the context of the ProtectMove sub-project of the Cooperative Health Research in South Tyrol (CHRIS) study, we investigated research participant perspectives on RbG communication strategies (Step 1 and 4, questionnaire with a subsample of CHRIS participants with and without previous experience of RbG, respectively). Additionally, we explored researchers' and study personnel's experience with RbG (Step 2 and 3, focus group discussion). In step 1 (N = 95), participants were generally satisfied with the study process. Most (71.6%) wanted to know their carrier status for personal and collective benefit. Tailored disclosure strategies and transparent, effective, and well-thought-out communication approaches were advocated by study personnel (Step 2, N = 6) and researchers (Step 3, N = 7). Challenges in dealing with uncertainty, concerns caused by RbG invitations, and the possibility of misunderstanding were also raised. In step 4 (N = 369), participants valued being informed of study details at the first invitation stage, and generally felt comfortable towards RbG study invitations (58.5%) and to receiving genetic information after the study (58.5-81.6%). Comfort and perceived impact of disclosure of genetic information varied according to the type of variant being potentially disclosed. This study suggested designing communication strategies, based on clear and understandable explanations, sensitive to participant expectations and preferences, developing case-by-case solutions for disclosure.","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142336837","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0