Journal of Community Genetics最新文献_第7页

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

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

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

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

Building a National Policy for Rare Disease in Brazil. 在巴西制定国家罕见病政策。

IF 1.5

Journal of Community Genetics Pub Date : 2024-09-26 DOI: 10.1007/s12687-024-00732-9

Têmis Maria Félix, Bibiana Mello de Oliveira, Dafne Dain Gandelman Horovitz

{"title":"Building a National Policy for Rare Disease in Brazil.","authors":"Têmis Maria Félix, Bibiana Mello de Oliveira, Dafne Dain Gandelman Horovitz","doi":"10.1007/s12687-024-00732-9","DOIUrl":"https://doi.org/10.1007/s12687-024-00732-9","url":null,"abstract":"Rare diseases (RD) are individually rare, although encompass a significant proportion of the population, affecting not only the individuals but also their families. In Brazil RD is defined by the Ministry of Health as a disorder that affects up to 65 individuals in 100,000, or 1.3 individuals in every 2,000. In this review the environment that led to the publication of a National Policy for Comprehensive Care for People of Rare Disease in 2014, a national plan with the aim to decrease morbidity and mortality of RD, improving the care of people with RD in the public health system are described. The process that finally led to such policy took over a decade, moving forward not only due to technical needs, but having patient organizations as essential actors and advocates. Specialized centers in RD were licensed and, since its publication, 33 centers have been accredited; such process, however, has been slow and concentrated in specific regions and larger cities of the country. Despite the incorporation of genetic tests in 2014 and exome sequencing later in 2020, many genetic tests are not offered by specialized centers, with unequal availability across the country. Public health system in Brazil uses ICD-10 for disease coding, preventing appropriate epidemiologic knowledge of RD in Brazil. Incorporation of new technologies as orphan drugs has been in place and regulation for expedite licensing for new RD drugs were issued, although high cost and availability to RD population has been a challenge.","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":"142336835","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

From stigma to increased social acceptance? Living with Machado-Joseph disease in São Miguel, Azores, Portugal. 从蒙受耻辱到提高社会认可度？葡萄牙亚速尔群岛圣米格尔的马查多-约瑟夫病患者生活。

IF 1.5

Journal of Community Genetics Pub Date : 2024-08-31 DOI: 10.1007/s12687-024-00731-w

Daniela Couto, Jorge Sequeiros, Manuela Lima, Liliana Sousa, Álvaro Mendes

{"title":"From stigma to increased social acceptance? Living with Machado-Joseph disease in São Miguel, Azores, Portugal.","authors":"Daniela Couto, Jorge Sequeiros, Manuela Lima, Liliana Sousa, Álvaro Mendes","doi":"10.1007/s12687-024-00731-w","DOIUrl":"https://doi.org/10.1007/s12687-024-00731-w","url":null,"abstract":"This study describes the experiences with the stigma attached to Machado-Joseph disease (MJD) in São Miguel Island, the Azores (Portugal). We draw on semi-structured interviews with persons with MJD, family members, healthcare professionals, and direct care providers recruited through the local patient's association (n = 28). Qualitative thematic analysis revealed three main themes: (i) the intense stigma associated with MJD in the past; (ii) the current tendency towards increased openness; and (iii) increased availability of information about MJD and support. The findings suggest that stigmatization was more frequent and intense in the past. Still, there is currently a decrease in the intensity of perceived stigma, accompanied by an increasing awareness about MJD within the community. The local patient's association is noted for playing a pivotal role in raising awareness about MJD in the community and fostering the confidence of individuals with MJD and their families to engage socially, which may help to reduce or mitigate feelings of stigma. This raises questions about whether the diminished stigma towards MJD in São Miguel results from heightened awareness about the condition, a decrease in the social acceptability of stigma, or a gradual internalization and normalization of stigma among individuals with MJD as a coping mechanism.","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142113352","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

Teaching and training of human resources for genetics and genomics in Brazil. 巴西遗传学和基因组学人力资源的教学和培训。

IF 1.5

Journal of Community Genetics Pub Date : 2024-08-13 DOI: 10.1007/s12687-024-00726-7

Fernanda Teresa de Lima, Maria Angélica de Faria Domingues de Lima, Patrícia Santana Correia, Rachel Sayuri Honjo, Rayana Elias Maia, Sandra Obikawa Kyosen, Débora Gusmão Melo

{"title":"Teaching and training of human resources for genetics and genomics in Brazil.","authors":"Fernanda Teresa de Lima, Maria Angélica de Faria Domingues de Lima, Patrícia Santana Correia, Rachel Sayuri Honjo, Rayana Elias Maia, Sandra Obikawa Kyosen, Débora Gusmão Melo","doi":"10.1007/s12687-024-00726-7","DOIUrl":"https://doi.org/10.1007/s12687-024-00726-7","url":null,"abstract":"This manuscript reviewed the state of the art about the teaching and training of human resources for genetics and genomics in Brazil. We presented the national scenario of teaching genetics in medical undergraduate and other health courses. We discussed the training of medical geneticists through medical residency and addressed the training in genetics of physicians from specialties other than genetics. We examined the training of health professionals specializing in genetics through lato sensu and stricto sensu postgraduate programs and presented the proposals for multi-professional residency in genetic counseling and genetics and genomics that are currently the subject of discussion in the country. Finally, we highlighted the importance of training primary health care professionals concerning genetics and genomics for the effective establishment of a line of care for individuals with genetic disorders in the Brazilian Unified Health System. Therefore, we provided a thorough overview of how genetics is (or is not) incorporated into professional training in a comprehensive public healthcare system such as the Brazilian.","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141972095","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

"Living with a question mark": psychosocial experience of Portuguese young adults at risk for hereditary amyloid transthyretin amyloidosis with polyneuropathy. "带着问号生活"：有遗传性淀粉样转甲状腺素淀粉样变性伴多发性神经病风险的葡萄牙年轻人的社会心理体验。

IF 1.5

Journal of Community Genetics Pub Date : 2024-08-01 Epub Date: 2024-07-08 DOI: 10.1007/s12687-024-00717-8

José D Pereira, Catarina Costa, Andreia Santos, Marina S Lemos, Jorge Sequeiros, Milena Paneque, Álvaro Mendes

{"title":"\"Living with a question mark\": psychosocial experience of Portuguese young adults at risk for hereditary amyloid transthyretin amyloidosis with polyneuropathy.","authors":"José D Pereira, Catarina Costa, Andreia Santos, Marina S Lemos, Jorge Sequeiros, Milena Paneque, Álvaro Mendes","doi":"10.1007/s12687-024-00717-8","DOIUrl":"10.1007/s12687-024-00717-8","url":null,"abstract":"This study is the first to explore the psychosocial experience of young Portuguese adults at genetic risk for hereditary amyloid transthyretin amyloidosis with polyneuropathy (hATTR-PN). The work focuses on the developmental peculiarities of their experience with the disease. Sixteen semi-structured interviews were conducted with young adults coming for pre-symptomatic testing (PST) at a single genetics outpatient center in Portugal. The data were analyzed qualitatively. The main findings suggest that four themes mark the psychosocial experience of the young adults interviewed. The first refers to the development of psychological representations, namely beliefs, mental representations, and social perceptions about hATTR-PN. The second regards the experienced and anticipated psychosocial impacts, namely, suffering, anxiety, and relief related to the disease. The third is related to using strategies such as performing PST, strategies focused on emotional regulation and the meaning of hATTR-PN, and social strategies to deal with these impacts over time. Finally, the fourth aspect concerns the perceived and expected support for the participants' needs provided by social contexts, that is, family and genetic counseling. In a period of life also marked by qualitatively different characteristics and developmental tasks from other life cycle stages (e.g., identity explorations, instability, and independent decision-making), experience with the disease can add psychosocial challenges to young adults at risk for hATTR-PN. Genetic counseling practices and health policies can be optimized to respond to the psychosocial needs of young adults. Future research should deepen the understanding of the psychosocial experience of individuals and families with late-onset hATTR-PN to improve the clinical response in this population.","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"401-411"},"PeriodicalIF":1.5,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11411036/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141555633","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