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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 Q4 GENETICS & HEREDITY 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

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.

地理和社会人口因素可能会影响粘多糖病(MPS)的自然史和流行病学。这项研究的主要目的是评估塞阿拉州(巴西东北部)人群中 MPS 的临床、分子和地理特征。为此,我们对 76 名 MPS 患者进行了临床评估、患者和/或家属访谈以及病历审查,并在此基础上开展了一项描述性横断面研究。MPS II 是最常见的类型,大多数患者出现错义致病变异。事实证明,MPS I 患者的临床表型最为严重,与其他类型的患者相比,他们最早出现症状(平均:7.1 个月;标准差 = 4.5),确诊时间也较早(2.2 年;标准差 = 2.1)。此外,我们还发现,13 名罹患 MPS VI 的患者出生在附近小城市的近亲结婚家庭,而该地区以前曾有过地理隔离、近亲结婚和遗传病聚集的报道。其中 10 人(至少 7 个不同的家庭)的 ARSB 基因出现了一种罕见的致病变异,即 c.1143-8T > G 的同源变异,此前只有伊比利亚和南美患者出现过这种变异。本文介绍的结果全面反映了巴西东北部一个重要州的 MPS 情况,该地区集中了许多导致罕见遗传病的风险因素,如近亲结婚、近亲繁殖和生殖隔离。我们讨论了可能的进化过程和生物社会动态,这有助于从群体医学遗传学和公共卫生的角度解释这一发现。
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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 Q4 GENETICS & HEREDITY 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

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.

本文阐述了研究参与者对基因组分析个人研究结果交流的看法。虽然大多数分析都侧重于如何从临床医生或研究人员的角度交流结果,但关于用户角度以及患者及其家属如何使用、重视和解释这些信息的数据却不足。个人效用的概念考虑了与生活质量相关的因素,包括信息如何影响个人的未来决策,已被证明与了解研究参与者的观点特别相关,并超越了死亡率和发病率等临床和分析效用因素。本文以心脏性猝死为例,对等待基因组结果的研究参与者进行了定性研究。我们的研究结果显示了基因组结果交流中的个人效用视角,包括认知、行为和情感结果。认知结果包括获得信息、提高对病因学和遗传特征的认识,以及对可能发现的结果的好奇心。行为结果包括能够规划生活决策,而情感结果则包括所使用的各种应对策略。我们还将从研究参与者的角度讨论了解负面结果和偶然发现的价值。本文就指导基因组分析回报的最佳实践提出了建议,包括在同意阶段纳入参与者对个性化交流的愿望;开发关系自主方法;以及让他们参与整个研究轨迹。
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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 Q4 GENETICS & HEREDITY Pub Date : 2024-10-01 Epub Date: 2024-08-09 DOI: 10.1007/s12687-024-00721-y
Sarah Walters, Colleen Aldous, Helen Malherbe

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.

个性化治疗,包括遗传学服务,要求初级保健医生(PHCPs)在诊断和护理遗传病患者方面发挥更大的作用。初级保健医生的遗传学知识和实践必须与时俱进,以确保提供充分的护理。我们进行了一次范围界定综述,以探究有关初级保健从业人员在遗传学、基因检测和基因服务方面的知识、态度和实践(KAPs)的同行评审文章。研究纳入了 1990 年 1 月至 2022 年 4 月期间在中低收入国家(LMICs)发表的英文人类遗传学/基因组学文章。来自世界卫生组织(WHO)定义的五个地区的 16 个中低收入国家的 28 篇文章符合纳入标准,这些文章的发表量呈稳步增长趋势,但各地区的贡献各不相同。东地中海地区(EMR)发表的文章最多(n = 8),而西太平洋地区(WPR)发表的文章最少(n = 2)。巴西发表的文章最多(n = 6),而 10 个国家各撰写了一篇文章。15 篇文章涉及对遗传学的认识,19 篇文章涉及对遗传学的态度,8 篇文章涉及遗传学实践。研究结果表明,尽管低收入和中等收入国家的初级保健医生对遗传学服务持积极态度,但他们对遗传学及其应用缺乏了解。资源有限、经济拮据、文化或宗教信仰等障碍阻碍了遗传学服务的获取。加强保健医生的遗传学教育对于改善对遗传病患者的护理至关重要。低收入和中等收入国家的文献稀缺,这强调了对教育干预措施进行研究以改善患者预后和家庭支持的必要性。
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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 Q4 GENETICS & HEREDITY 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

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.

与非拉美裔白人相比,拉美裔女性接受遗传咨询和基因检测(GCT)的可能性较低,原因在于系统性和患者层面的障碍。我们开发并测试了摄影短剧,以提高有遗传性乳腺癌和卵巢癌(HBOC)风险的拉丁裔女性对遗传咨询和基因检测的认识。摄影短片的内容取自现有的具有文化针对性的叙事视频,该视频的重点是改善有 HBOC 风险的拉美女性对 GCT 的使用。我们采用混合方法,对癌症患者(10 人)及其亲属(10 人)进行了访谈,通过对自我评估的 GCT 知识和与家人讨论癌症的意愿进行前、后调查项目,评估了该动画片的初步效果。卫生工作者(n = 10)对短剧内容提供了反馈意见。采用 McNemar 检验法检验了在故事前和故事后结果比例的差异。采用协商一致的定性研究方法,在 Dedoose 中对访谈内容进行了转录和编码。阅读影集后,患者对 GCT 的自评知识增加了 22%(p = 0.16),患者自评知识从 50% 增加到 60%,亲属自评知识从 63% 增加到 100%。同样,通过阅读漫画,与家人谈论癌症的意愿提高了 33%(p = 0.02),患者从 70% 提高到 100%,亲属从 38% 提高到 75%。我们确定了六个主题,其中一些围绕着家庭故事的信息、反馈以及 GCT 的感知障碍。总的来说,参与者喜欢用漫画来提高对 GCT 的认识,并与家人进行癌症对话。家庭影剧有可能被用作教育工具,提高拉丁裔高危家庭对 GCT 的认识,并增加他们与癌症的交流。
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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 Q4 GENETICS & HEREDITY 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

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.

近亲结婚率的升高与遗传性疾病发病率的增加有关,给家庭、公共卫生和医疗保健系统带来了沉重负担。基因检测有助于更早地发现疾病和个性化治疗方法。因此,本研究旨在评估巴基斯坦人对基因检测的了解、认识、态度和担忧。参与者(n = 494)被问及影响接受基因检测态度的因素。此外,本研究还调查了巴基斯坦人对基因检测的担忧和保留意见。受访者表示,近亲结婚会导致遗传性疾病的风险增加,并认为了解遗传性疾病的知识可以提高生活质量。近 80% 的受访者知道 "基因检测 "这一术语,其中大多数人知道基因检测。87.7% 的受访者同意婚前进行基因筛查,39.9% 的受访者愿意接受基因检测。更多的知识与接受基因检测的可能性明显相关,这表明如果将基因检测纳入标准程序,可能会被接受。有遗传疾病家族史的受访者接受基因检测的积极性更高。对基因检测的了解程度也会影响人们的顾虑。文化或宗教信仰也会影响接受基因检测的决定。调查显示,巴基斯坦人对基因检测的看法和了解程度各不相同。虽然人们普遍对基因检测抱有积极的兴趣,但对隐私、准确性和文化因素的担忧也应得到解决。教育和宣传活动有助于提高人们的理解和接受程度。
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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 Q4 GENETICS & HEREDITY 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

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.

第一个遗传咨询(GC)研究生培训项目于 1969 年在美国成立,在许多国家,遗传咨询都是一个新兴的医疗保健领域。每年,至少有 7% 的美国遗传咨询研究生项目申请人来自美国以外的国家("国际遗传咨询申请人")。为了满足国际遗传咨询申请者的独特需求,美国国家遗传咨询师协会(NSGC)国际特殊兴趣小组(ISIG)的志愿者们于 2021 年启动了一项半结构化导师计划("国际遗传咨询导师计划"(IGCMP)),该计划提供个性化的导师指导,并可选择参加小组活动,以促进交流和学习。来自 19 个国家的 52 人在三个申请周期内报名参加了 IGCMP。其中,47 人有资格作为被指导者参加,大多数人对与在美国的国际 GC 进行一对一虚拟会面感兴趣(n = 41/47,87.2%)。我们向参加了 IGCMP 第一或第二周期后申请 GC 研究生院的 17 名被指导者发送了评估表。在收到的 12 份回复中,有 10 人(83.3%)表示对自己的导师非常满意,有 9 人(75.0%)认为与导师的一对一会面对申请和面试过程都很有帮助。重要的是,关于项目改进的反馈显示,受访者有兴趣与更多的国际申请者和导师建立联系,而且所有受访者都表示有兴趣在整个研究生阶段接受导师的指导。未来的发展方向包括与其他导师和研究生项目合作,进一步加强对国际申请者的支持。
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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 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
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Journal of Community Genetics
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