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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 Q4 GENETICS & HEREDITY 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

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.

在非洲,关于向研究参与者披露基因组结果的政策很少,研究也不多。由于了解参与者的偏好对反馈过程的成功至关重要,本研究通过与正在进行的神经发育障碍基因组学研究项目的参与者接触来解决这一问题,目的是评估收到相关结果的预期影响,并探索在南非背景下对反馈的偏好。研究人员对 17 名参与研究的儿童家长进行了 12 次半结构式访谈。利用主题分析和框架矩阵对访谈记录和观察笔记进行了分析。参与者将自己的意义与收到相关结果的影响联系起来,并认为这些信息除了临床实用性外,还有其他有用的原因。这些原因包括结案、改善对其子女病情的管理以及有关复发风险的信息。就反馈的偏好而言,由研究小组成员或熟悉其子女情况的医疗专业人员亲自进行结果传递是首选。此外,参与者对自己的血液或自己对研究的贡献有一种主人翁感,即使是无关紧要的结果,他们也能从中找到意义。这些发现让我们深入了解了讨论的类型,这些讨论对于在南非社区内以文化适宜的方式制定返还个人基因研究结果的最佳实践和指南可能很有价值。
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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 Q4 GENETICS & HEREDITY 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

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.

背景:多因素癌症风险预测工具(如 CanRisk)正越来越多地被纳入常规医疗保健中。理解风险信息和传达风险具有挑战性,医疗保健专业人员在很大程度上依赖于风险预测工具的输出结果来传达结果。这项工作旨在制作一份新的 CanRisk 报告,以便用户可以直接获取关键信息,并有效传达风险估计结果:方法:在 13 个月的时间里,我们与患者、公众和医疗保健专业人士共同设计了一个由 8 个步骤组成的流程。步骤包括:1)对原始 CanRisk 报告进行大声思考测试;2)对原始报告进行结构化反馈;3)文献综述;4)开发新的报告原型;5)第一轮结构化反馈;6)更新新的报告原型;7)第二轮结构化反馈;8)最终确定并发布新的 CanRisk 报告:我们收到了来自 34 个利益相关方的 56 组反馈意见。总的来说,最初的 CanRisk 报告并不适合患者和公众。根据反馈意见,新报告对所提供的信息进行了概述:第一部分概述了针对个人的关键信息;第二和第三部分介绍了针对不同环境下医疗保健专业人员的信息。新功能还包括解释性文字、定义、图表、关键字和表格,以支持对信息的解读:讨论:这一共同设计的经验表明,合作对于成功传播复杂的健康信息很有价值。因此,新的 CanRisk 报告有可能更好地支持临床环境中癌症风险管理的共同决策过程。
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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 Q4 GENETICS & HEREDITY 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

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.

逐基因型回顾(RbG)是一种自下而上的方法,利用现有基因数据设计后续分层研究。基因信息可能会在邀请时部分公开,从而引发伦理问题,这就要求在 RbG 方法中确定公开和交流的最佳实践。在南蒂罗尔合作健康研究(CHRIS)的 "ProtectMove "子项目中,我们调查了研究参与者对 RbG 沟通策略的看法(步骤 1 和步骤 4,分别对具有和不具有 RbG 经验的 CHRIS 参与者进行问卷调查)。此外,我们还探讨了研究人员和研究人员在 RbG 方面的经验(第 2 步和第 3 步,焦点小组讨论)。在步骤 1(N = 95)中,参与者普遍对研究过程表示满意。大多数人(71.6%)希望了解自己的承运人身份,以获得个人和集体利益。研究人员(第 2 步,N = 6)和研究人员(第 3 步,N = 7)都主张采取有针对性的披露策略以及透明、有效和深思熟虑的沟通方式。他们还提出了应对不确定性的挑战、RbG 邀请引起的担忧以及误解的可能性。在步骤 4(N = 369)中,参与者重视在首次邀请阶段被告知研究细节,并普遍对 RbG 研究邀请(58.5%)和研究后接收基因信息(58.5-81.6%)感到舒适。基因信息披露的舒适度和感知影响因可能披露的变异类型而异。本研究建议设计沟通策略,以清晰易懂的解释为基础,对参与者的期望和偏好保持敏感,并根据具体情况制定披露方案。
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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 Q4 GENETICS & HEREDITY Pub Date : 2024-09-26 DOI: 10.1007/s12687-024-00732-9
Têmis Maria Félix, Bibiana Mello de Oliveira, Dafne Dain Gandelman Horovitz

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.

罕见病(RD)是一种个人罕见的疾病,但在人口中占很大比例,不仅影响个人,还影响其家庭。在巴西,卫生部将罕见病定义为每 10 万人中有 65 人患病,或每 2,000 人中有 1.3 人患病的疾病。本综述介绍了 2014 年发布《罕见病患者全面护理国家政策》的环境,该国家计划旨在降低 RD 的发病率和死亡率,改善公共卫生系统对 RD 患者的护理。最终形成这一政策的过程历时十余年,不仅是由于技术需要,而且患者组织也是重要的参与者和倡导者。RD 专业中心获得了许可,自该报告发布以来,已有 33 家中心获得了认证;然而,这一过程进展缓慢,且集中在国内特定地区和较大的城市。尽管在 2014 年纳入了基因检测,并在 2020 年晚些时候纳入了外显子组测序,但许多基因检测并不是由专业中心提供的,全国各地提供的基因检测并不均衡。巴西的公共卫生系统使用 ICD-10 进行疾病编码,因此无法适当了解巴西的 RD 流行病学情况。巴西已将新技术纳入孤儿药,并颁布了加快 RD 新药许可的法规,但高昂的成本和 RD 患者的可用性一直是个挑战。
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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 Q4 GENETICS & HEREDITY Pub Date : 2024-08-31 DOI: 10.1007/s12687-024-00731-w
Daniela Couto, Jorge Sequeiros, Manuela Lima, Liliana Sousa, Álvaro Mendes

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.

本研究描述了葡萄牙亚速尔群岛圣米格尔岛的马查多-约瑟夫病(MJD)患者的病耻感。我们通过当地患者协会对马查多约瑟夫病患者、家庭成员、医护人员和直接护理人员进行了半结构化访谈(n = 28)。定性主题分析揭示了三大主题:(i) 过去与轻度脊髓损伤相关的严重污名化;(ii) 当前的开放趋势;(iii) 有关轻度脊髓损伤的信息和支持的可用性增加。研究结果表明,污名化在过去更为频繁和严重。尽管如此,随着社区对马约 翰-马约拉尔氏病的认识不断提高,目前感觉到的污名化程度有所减轻。当地患者协会在提高社区对马约拉尔氏症的认识方面发挥了关键作用,并增强了马约拉尔氏症患者及其家人参与社交活动的信心,这可能有助于减少或减轻耻辱感。这就提出了一个问题:圣米格尔对马约尔氏症的成见减少,是由于对该疾病的认识提高了,还是由于社会对成见的接受程度降低了,抑或是由于马约尔氏症患者逐渐将成见内化和正常化,将其作为一种应对机制。
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引用次数: 0
Deciphering the needs of patients with hereditary breast and ovarian Cancer in the Process of Genetic Counseling to Inform the Development of a Mobile Support App: a qualitative study in Germany. 解读遗传性乳腺癌和卵巢癌患者在遗传咨询过程中的需求,为开发移动支持应用程序提供参考:德国的一项定性研究。
IF 1.5 Q4 GENETICS & HEREDITY Pub Date : 2024-08-19 DOI: 10.1007/s12687-024-00727-6
Nils Ammon, Chiara Reichert, Thomas Kupka, Steffen Oeltze-Jafra, Anke Katharina Bergmann, Brigitte Schlegelberger, Dominik Wolff, Beate Vajen

Patients with hereditary breast and ovarian cancer (HBOC) are not only concerned about their own health but also about that of their children, grandchildren, and other relatives. Therefore, they have specific needs for information and support. During genetic counseling guidance is provided to HBOC patients and other individuals who may be at risk for familial cancer. The purpose of the study was to identify the needs of HBOC patients during the genetic counseling process that could be addressed by digital solutions. Nine semi-structured qualitative interviews were conducted. Overall, the patients appreciated the personal contact with human geneticists as an especially positive factor in the genetic counseling process. However, patients noted the following needs (1) support in the time following genetic counseling, (2) support before genetic counseling by collecting own and familial medical information, (3) Need for contact options to support services, (4) Need for patient-friendly medical information, (5) Wish for administration-related components in a support app. The results will inform the development of a patient-centered mobile support app.

遗传性乳腺癌和卵巢癌(HBOC)患者不仅关心自己的健康,也关心子女、孙辈和其他亲属的健康。因此,他们对信息和支持有特殊的需求。在遗传咨询过程中,我们会为 HBOC 患者和其他可能有家族性癌症风险的人提供指导。本研究的目的是确定 HBOC 患者在遗传咨询过程中的需求,这些需求可以通过数字解决方案来解决。研究人员进行了九次半结构化定性访谈。总体而言,患者赞赏与人类遗传学家的个人接触,认为这是遗传咨询过程中一个特别积极的因素。不过,患者指出了以下需求:(1)遗传咨询后的支持;(2)遗传咨询前通过收集自身和家庭医疗信息提供支持;(3)需要支持服务的联系选项;(4)需要方便患者的医疗信息;(5)希望在支持应用程序中提供与管理相关的组件。研究结果将为开发以患者为中心的移动支持应用程序提供参考。
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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 Q4 GENETICS & HEREDITY 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

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.

本手稿回顾了巴西遗传学和基因组学教学与人才培养的最新进展。我们介绍了全国医学本科和其他健康课程的遗传学教学情况。我们讨论了通过住院医师培训培养医学遗传学家的问题,并探讨了遗传学以外其他专业医生的遗传学培训问题。我们审查了通过广义和狭义研究生课程对遗传学专业卫生专业人员的培训情况,并介绍了该国目前正在讨论的遗传咨询和遗传学及基因组学方面的多专业住院医师培训建议。最后,我们强调了对初级卫生保健专业人员进行遗传学和基因组学培训的重要性,以便在巴西统一卫生系统中为遗传疾病患者提供有效的医疗服务。因此,我们全面概述了在巴西这样一个综合性公共医疗保健系统中,如何将遗传学纳入(或未纳入)专业培训。
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引用次数: 0
Health-related roles of older generations in families with inherited genetic conditions: a scoping review. 遗传性疾病家庭中老年人在健康方面的作用:范围界定综述。
IF 1.5 Q4 GENETICS & HEREDITY Pub Date : 2024-08-01 Epub Date: 2024-05-25 DOI: 10.1007/s12687-024-00713-y
Carla Roma Oliveira, Catarina Seidi, Jorge Sequeiros, Liliana Sousa, Álvaro Mendes

Inherited genetic conditions are family diseases. They affect consanguineous relatives, in lineage for several generations, and impact the family dynamics. Older generations have been considered highly influential in the health management of families with inherited genetic conditions. To our knowledge, no reviews so far addressed the health-related roles of older generations in these families. This scoping review aims to fill that gap by mapping the existent research about the health-roles roles performed by the older generations in families living with autosomal dominant inherited genetic conditions. Four electronic databases were searched: Scopus, Web of Science, PubMed, PsycInfo. Eleven studies were included, and relevant findings were extracted. Main roles included: informers vs. blockers of disease-related information; encouragers vs. discouragers of health screening or genetic testing; (non-)supporters; and role models in living and coping with the disease. The roles played by older generations are relevant to the health management of other family members and can be beneficial to themselves (reciprocal interactions). Acknowledging and understanding these roles is important for professionals and health-services. Results suggest the relevance of an intergenerational perspective when working with families with inherited genetic conditions.

遗传性疾病是家族性疾病。它们会影响到几代同堂的近亲,并影响到家庭的活力。老一辈人被认为对遗传性疾病家庭的健康管理有很大影响。据我们所知,迄今为止还没有任何综述涉及老一辈人在这些家庭中与健康相关的作用。本综述旨在通过对常染色体显性遗传疾病家庭中老一辈人在健康方面所扮演角色的现有研究进行梳理,从而填补这一空白。我们检索了四个电子数据库:Scopus、Web of Science、PubMed 和 PsycInfo。共纳入 11 项研究,并提取了相关结果。主要角色包括:疾病相关信息的告知者与阻止者;健康筛查或基因检测的鼓励者与阻止者;(非)支持者;以及生活和应对疾病的榜样。老一辈所扮演的角色与其他家庭成员的健康管理息息相关,对他们自己也有好处(互惠互动)。承认和理解这些角色对于专业人员和医疗服务机构来说非常重要。研究结果表明,在与患有遗传性疾病的家庭合作时,代际观点非常重要。
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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 Q4 GENETICS & HEREDITY 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

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.

本研究首次探讨了葡萄牙年轻成年人在遗传性淀粉样转甲状腺素淀粉样变性伴多发性神经病(hATTR-PN)遗传风险方面的社会心理体验。这项工作的重点是研究他们在成长过程中与这种疾病打交道的特殊经历。我们在葡萄牙的一家遗传学门诊中心对前来接受症状前检测(PST)的年轻人进行了 16 次半结构式访谈。对数据进行了定性分析。主要研究结果表明,受访年轻人的社会心理经历有四个主题。第一个主题是心理表征的发展,即关于 hATTR-PN 的信念、心理表征和社会认知。第二种是经历和预期的社会心理影响,即与疾病相关的痛苦、焦虑和解脱。第三个方面涉及使用策略,如进行 PST、侧重于情绪调节和 hATTR-PN 意义的策略,以及随着时间的推移应对这些影响的社会策略。最后,第四个方面涉及参与者对社会环境(即家庭和遗传咨询)所提供的支持的感知和预期。与其他生命周期阶段(如身份探索、不稳定性和独立决策)相比,hATTR-PN 的特点和发展任务也有质的不同,在这一阶段,患病经历会给有 hATTR-PN 风险的年轻人带来更多的社会心理挑战。可以优化遗传咨询实践和健康政策,以满足年轻人的社会心理需求。未来的研究应加深对晚发 hATTR-PN 患者及其家庭的社会心理体验的了解,以改善对这一人群的临床应对。
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引用次数: 0
Prevalence of congenital anomalies and prenatal diagnosis by birth institution (public vs. non-public): indicators of inequality in access to elective termination of pregnancy for fetal anomalies. 按出生机构(公立与非公立)分列的先天畸形和产前诊断流行率:因胎儿畸形而选择终止妊娠的不平等指标。
IF 1.5 Q4 GENETICS & HEREDITY Pub Date : 2024-08-01 Epub Date: 2024-06-01 DOI: 10.1007/s12687-024-00714-x
Paloma Brun, Boris Groisman, María Paz Bidondo, Pablo Barbero, Marianela Trotta, Rosa Liascovich

Congenital anomalies (CA) encompass all morphological or functional alterations originating prenatally and present at birth. The prenatal diagnosis of these anomalies can significantly impact the overall health of the pregnant individual and may influence her decision regarding the continuation of the pregnancy. In contexts where safe pregnancy termination is not guaranteed by the state, it can lead to unsafe procedures with severe consequences. In our research, we analyzed epidemiological information on CA to develop potential indicators of inequity in access to safe abortion prior to the legalization of legal termination of pregnancy in Argentina. We included cases from 13 public hospitals and 9 non-public subsector hospitals, from the period 2013-2020. Two groups of specific CA were selected: 1) CA capable of being prenatally diagnosed, and 2) CA related to vascular disruptive events. 10/18 of the selected CA capable of being prenatally diagnosed had a significantly higher prevalence in public hospitals (anencephaly, encephalocele, spina bifida, microcephaly, hydrocephalus, holoprosencephaly, hydranencephaly, diaphragmatic hernia, gastroschisis, bilateral renal agenesis). Non public hospitals had higher prenatal detection. Birth prevalence of CA related with vascular disruptive events (limb reduction, Moebius syndrome, amniotic band sequence) were significantly higher in public hospitals. These results suggest disparities in access to prenatal diagnosis and safe abortion based on socioeconomic status. There was a significant gap in access to prenatal diagnosis for CA and possibly to safe elective abortion depending on the type of institution (public vs. non-public).

先天性畸形(Congenital anomalies,CA)包括所有源自产前并在出生时出现的形态或功能改变。这些异常的产前诊断会对孕妇的整体健康产生重大影响,并可能影响其是否继续妊娠的决定。在安全终止妊娠得不到国家保障的情况下,可能会导致不安全的手术,造成严重后果。在我们的研究中,我们分析了有关 CA 的流行病学信息,以制定在阿根廷合法终止妊娠合法化之前安全堕胎机会不平等的潜在指标。我们纳入了 2013-2020 年间 13 家公立医院和 9 家非公立分部门医院的病例。我们选取了两组特定的CA:1)可在产前确诊的CA;2)与血管破坏事件相关的CA。在所选的可进行产前诊断的 CA 中,10/18 在公立医院的发病率明显更高(无脑畸形、头畸形、脊柱裂、小头畸形、脑积水、全脑畸形、肾积水、膈疝、胃畸形、双侧肾发育不全)。非公立医院的产前检测率较高。与血管破坏事件(肢体缩窄、莫比乌斯综合征、羊膜带序列)相关的 CA 出生率在公立医院明显较高。这些结果表明,在获得产前诊断和安全堕胎方面,社会经济地位存在差异。不同类型的机构(公立与非公立)在获得 CA 产前诊断和安全选择性人工流产方面存在明显差距。
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Journal of Community Genetics
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