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The need to set explicit goals for human germline gene editing public dialogues. 需要为人类种系基因编辑公开对话设定明确的目标。
IF 1.5 Q4 GENETICS & HEREDITY Pub Date : 2024-06-01 Epub Date: 2024-05-08 DOI: 10.1007/s12687-024-00710-1
Wendy P Geuverink, Diewertje Houtman, Isabel R A Retel Helmrich, Sophie van Baalen, Britta C van Beers, Carla G van El, Lidewij Henneman, Michelle D Kasprzak, Danielle Arets, Sam R Riedijk

Given the potentially large ethical and societal implications of human germline gene editing (HGGE) the urgent need for public and stakeholder engagement (PSE) has been repeatedly expressed. However, the explicit goals of such PSE efforts often remain poorly defined. In this program report, we outline the goals of our Dutch project called De DNA dialogen (The DNA dialogues). We believe that setting explicit goals in advance is essential to enable meaningful PSE efforts. Moreover, it enables the evaluation of our engagement efforts. The following four goals, which result from intensive consultations among the transdisciplinary projects' consortium members and based on the literature, form the foundation for how we will engage the public and stakeholders in deliberation about HGGE: 1) Enable publics and stakeholders to deliberate on "what if" questions, before considering "whether" and "how" questions regarding HGGE, 2) Investigate agreement and disagreement in values and beliefs regarding HGGE in order to agree and disagree more precisely, 3) Involve diverse publics with various perspectives, with a focus on those that are typically underrepresented in PSE, 4) Enable societally aligned policy making by providing policymakers, health care professionals and legal experts insight into how values are weighed and ascribed meaning in the context of HGGE by various publics, and how these values relate to the principles of democratic rule of law and fundamental rights. The effort to describe our goals in detail may serve as an example and can inform future initiatives striving for open science and open governance in the context of PSE.

鉴于人类种系基因编辑(HGGE)可能会产生巨大的伦理和社会影响,人们一再表示迫切需要让公众和利益相关者参与进来(PSE)。然而,此类 PSE 工作的明确目标往往仍未得到很好的界定。在本计划报告中,我们概述了荷兰项目 De DNA dialogen(DNA 对话)的目标。我们认为,提前设定明确的目标对于开展有意义的 PSE 工作至关重要。此外,它还有助于对我们的参与工作进行评估。以下四个目标是跨学科项目联合体成员之间深入磋商的结果,并以文献为基础,构成了我们如何让公众和利益相关者参与讨论全球地质基因组研究的基础:1) 让公众和利益相关者在考虑有关政府间地质学小组的 "是否 "和 "如何 "的问题之前,先讨论 "如果 "的问题,2) 调查有关政府间地质学小组的价值观和信念方面的一致和分歧,以便更准确地达成一致和分歧,3) 让具有各种观点的不同公众参与进来、4) 让政策制定者、医疗保健专业人员和法律专家深入了解在性别平等问题上不同公众是如何权衡价值观并赋予其意义的,以及这些价值观与民主法治原则和基本权利之间的关系,从而制定出符合社会发展的政策。详细描述我们目标的努力可作为一个范例,并可为未来在 PSE 背景下努力实现开放科学和开放治理的倡议提供参考。
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引用次数: 0
The cost of genetic diagnosis of suspected hereditary pediatric cataracts with whole-exome sequencing from a middle-income country perspective: a mixed costing analysis. 从中等收入国家的角度看利用全外显子组测序对疑似遗传性小儿白内障进行基因诊断的成本:混合成本计算分析。
IF 1.5 Q4 GENETICS & HEREDITY Pub Date : 2024-06-01 Epub Date: 2024-05-10 DOI: 10.1007/s12687-024-00708-9
Luiza M Neves, Márcia Pinto, Olivia A Zin, Daniela P Cunha, Bruna N S Agonigi, Fabiana L Motta, Leonardo H F Gomes, Dafne D G Horovitz, Daltro C Almeida, Jocieli Malacarne, Leticia Guida, Andressa Braga, Adriana Bastos Carvalho, Eduardo Pereira, Ana Paula S Rodrigues, Juliana M F Sallum, Andrea A Zin, Zilton F M Vasconcelos

Up to 25% of pediatric cataract cases are inherited. There is sparse information in the literature regarding the cost of whole-exome sequencing (WES) for suspected hereditary pediatric cataracts. Molecular diagnosis of suspected hereditary pediatric cataracts is important for comprehensive genetic counseling. We performed a partial economic evaluation with a mixed costing analysis, using reimbursement data and microcosting approach with a bottom-up technique to estimate the cost of using WES for genetic diagnosis of suspected hereditary pediatric cataracts from the perspective of the Brazilian governmental health care system. One hundred and ten participants from twenty-nine families in Rio de Janeiro (RJ) were included. Costs of consumables, staff and equipment were calculated. Two scenarios were created: (1) The reference scenario included patients from RJ with suspected hereditary pediatric cataracts plus two family members. (2) The alternative scenario considered other genetic diseases, resulting in 5,280 exams per month. Sensitivity analysis was also performed. In the reference scenario, the total cost per exam was 700.09 United States dollars (USD), and in the alternative scenario, the total cost was 559.23 USD. The cost of WES alone was 527.85 USD in the reference scenario and 386.98 USD in the alternative scenario. Sensitivity analysis revealed that the largest costs were associated with consumables in both scenarios. Economic evaluations can help inform policy decisions, especially in middle-income countries such as Brazil.

高达 25% 的小儿白内障病例是遗传性的。有关疑似遗传性小儿白内障的全外显子组测序(WES)费用的文献资料很少。对疑似遗传性小儿白内障进行分子诊断对于提供全面的遗传咨询非常重要。我们采用混合成本核算分析法进行了部分经济评估,利用报销数据和自下而上技术的微观成本核算方法,从巴西政府医疗保健系统的角度估算了使用 WES 对疑似遗传性小儿白内障进行基因诊断的成本。研究对象包括来自里约热内卢(RJ)29 个家庭的 110 名参与者。计算了消耗品、工作人员和设备的成本。共设计了两种方案:(1)参考方案包括里约热内卢的疑似遗传性小儿白内障患者及两名家庭成员。(2) 备选方案考虑了其他遗传疾病,因此每月检查人数为 5 280 人。还进行了敏感性分析。在参考方案中,每次检查的总费用为 700.09 美元,而在替代方案中,总费用为 559.23 美元。在参考方案中,仅 WES 的成本为 527.85 美元,在替代方案中为 386.98 美元。敏感性分析表明,两种方案中最大的成本都与耗材有关。经济评估有助于为决策提供信息,尤其是在巴西等中等收入国家。
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引用次数: 0
Understanding perceptions of tumor genomic profile testing in Black/African American cancer patients in a qualitative study: the role of medical mistrust, provider communication, and family support. 在一项定性研究中了解黑人/非裔美国人癌症患者对肿瘤基因组图谱检测的看法:医疗不信任、医疗服务提供者沟通和家庭支持的作用。
IF 1.5 Q4 GENETICS & HEREDITY Pub Date : 2024-06-01 Epub Date: 2024-02-16 DOI: 10.1007/s12687-024-00700-3
Caseem C Luck, Sarah Bauerle Bass, Yana Chertock, Patrick J A Kelly, Katie Singley, Ariel Hoadley, Michael J Hall

Tumor genomic profiling (TGP) examines genes and somatic mutations specific to a patient's tumor to identify targets for cancer treatments but can also uncover secondary hereditary (germline) mutations. Most patients are unprepared to make complex decisions related to this information. Black/African American (AA) cancer patients are especially at risk because of lower health literacy, higher levels of medical mistrust, and lower awareness and knowledge of genetic testing. But little is known about their TGP attitudes or preferences. Five in-person focus groups were conducted with Black/AA cancer patients (N = 33) from an NCI-designated cancer center and an affiliated oncology unit in an urban safety-net hospital located in Philadelphia. Focus groups explored participants' understanding of TGP, cultural beliefs about genetics, medical mistrust, and how these perceptions informed decision-making. Participants were mostly female (81.8%), and one-third had some college education; mean age was 57 with a SD of 11.35. Of patients, 33.3% reported never having heard of TGP, and 48.5% were not aware of having had TGP as part of their cancer treatment. Qualitative analysis was guided by the principles of applied thematic analysis and yielded five themes: (1) mistrust of medical institutions spurring independent health-information seeking; (2) genetic testing results as both empowering and overwhelming; (3) how provider-patient communication can obviate medical mistrust; (4) how unsupportive patient-family communication undermines interest in secondary-hereditary risk communication; and (5) importance of developing centralized patient support systems outside of treatment decisions. Results improve understanding of how Black/AA patients perceive of TGP and how interventions can be developed to assist with making informed decisions about secondary hereditary results.

肿瘤基因组图谱(TGP)检查患者肿瘤特有的基因和体细胞突变,以确定癌症治疗的靶点,但也能发现继发性遗传(种系)突变。大多数患者都没有准备好做出与这些信息相关的复杂决定。黑人/非裔美国人(AA)癌症患者的风险尤其大,因为他们的健康知识水平较低,对医疗的不信任程度较高,对基因检测的认识和了解也较少。但是,人们对他们对 TGP 的态度或偏好却知之甚少。我们与费城一家城市安全网医院的 NCI 指定癌症中心和附属肿瘤科的黑人/AA 癌症患者(N = 33)进行了五次面对面焦点小组讨论。焦点小组探讨了参与者对 TGP 的理解、对遗传学的文化观念、对医疗的不信任以及这些观念如何影响决策。参与者大多为女性(81.8%),三分之一受过一定的大学教育;平均年龄为 57 岁,标准差为 11.35 岁。33.3% 的患者表示从未听说过 TGP,48.5% 的患者不知道 TGP 是其癌症治疗的一部分。定性分析以应用主题分析法的原则为指导,产生了五个主题:(1)对医疗机构的不信任促使患者独立寻求健康信息;(2)基因检测结果既能增强患者的能力,又能让患者不知所措;(3)医疗服务提供者与患者之间的沟通如何消除医疗不信任;(4)不支持的患者家庭沟通如何削弱患者对二次遗传风险沟通的兴趣;以及(5)在治疗决策之外发展集中式患者支持系统的重要性。研究结果加深了人们对黑人/非裔美国人患者如何看待 TGP 以及如何制定干预措施以帮助他们就继发性遗传结果做出知情决定的理解。
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引用次数: 0
Public participation in human genome editing research governance: what do scientists think? 公众参与人类基因组编辑研究管理:科学家怎么看?
IF 1.5 Q4 GENETICS & HEREDITY Pub Date : 2024-06-01 Epub Date: 2024-02-14 DOI: 10.1007/s12687-024-00701-2
Margaret Waltz, Michael A Flatt, Eric T Juengst, John M Conley, R Jean Cadigan

Within the numerous policy and governance recommendations for human genome editing research, anticipatory public engagement seems universally agreed upon as a vital endeavor. Yet it is unclear whether and how scientists whose research involves genome editing see value in engaging the public in discussions of genome editing research governance. To address this question, we interviewed 81 international scientists who use genome editing in their research. The views of our scientist interviewees about public engagement occupied a broad spectrum from enthusiastic support to strong skepticism. But most scientists' views landed somewhere in the middle, seeing public engagement as merely informing the public about the science of genome editing. We argue that such a stance reflects the traditional "knowledge-deficit model." Beyond addressing the operational difficulties of public engagement, many scientists' adherence to the deficit model is a deeper barrier that needs to be addressed if public engagement is to occur and be successful.

在有关人类基因组编辑研究的众多政策和管理建议中,公众的预期参与似乎被普遍认为是一项至关重要的工作。然而,研究涉及基因组编辑的科学家是否以及如何看待让公众参与基因组编辑研究管理讨论的价值,目前尚不清楚。为了解决这个问题,我们采访了 81 位在研究中使用基因组编辑技术的国际科学家。受访科学家对公众参与的看法各不相同,有的热情支持,有的持强烈怀疑态度。但大多数科学家的观点处于中间位置,认为公众参与只是向公众介绍基因组编辑的科学知识。我们认为,这种立场反映了传统的 "知识匮乏模式"。除了解决公众参与的操作困难之外,许多科学家对知识匮乏模式的坚持是一个更深层次的障碍,要想让公众参与发生并取得成功,就必须解决这个问题。
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引用次数: 0
A collaborative model for Medical Genetics services delivery in Portugal: a multidisciplinary perspective. 葡萄牙提供医学遗传学服务的合作模式:多学科视角。
IF 1.5 Q4 GENETICS & HEREDITY Pub Date : 2024-06-01 Epub Date: 2024-03-07 DOI: 10.1007/s12687-024-00703-0
Catarina Costa, João Silva, Luís Filipe Azevedo, Marina Serra de Lemos, Milena Paneque
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引用次数: 0
Patient perspectives on pharmacogenomic (PGx) testing for antidepressant prescribing in primary care: a qualitative description study. 患者对基层医疗机构抗抑郁药物处方药物基因组学(PGx)检测的看法:一项定性描述研究。
IF 1.9 Q2 Medicine Pub Date : 2024-04-08 DOI: 10.1007/s12687-024-00705-y
A. Cernat, Z. Samaan, Julia Abelson, Amanada Ramdyal, Hadia Shaikh, Meredith Vanstone
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引用次数: 0
Comparative assessment of quality of life among adolescents with sickle cell disease and sickle cell trait: evidence from Odisha, India. 患有镰状细胞病和镰状细胞性状的青少年生活质量比较评估:印度奥迪沙的证据。
IF 1.9 Q2 Medicine Pub Date : 2024-04-08 DOI: 10.1007/s12687-024-00706-x
B. K. Bindhani, J. Nayak
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引用次数: 0
Training of community health agents - a strategy for earlier recognition of mucopolysaccharidoses. 培训社区保健人员--尽早识别粘多糖病的策略。
IF 1.9 Q2 Medicine Pub Date : 2024-04-01 Epub Date: 2023-12-20 DOI: 10.1007/s12687-023-00691-7
Diane Bressan Pedrini, Larissa Pozzebon da Silva, Taiane Alves Vieira, Roberto Giugliani

Primary Health Care (PHC) is the gateway for patients in the Brazilian unified health system (Sistema Único de Saúde-SUS), playing an extremely important role in the identification of potential patients with genetic diseases, and referral to specialized and tertiary health services. The PHC is composed of a multidisciplinary team, including the Community Health Agent, who is in direct contact with the community. To implement an educational program aimed at community health agents working in several municipalities in the state of Rio Grande do Sul (RS), Brazil. The training was focused on genetic diseases in general, with a special focus on identifying patients with Mucopolysaccharidosis (MPS). Tests were applied before and after the educational intervention, in order to assess the participants' knowledge on the topic at these two moments. The study covered a total of ten training sessions carried out in eight municipalities in the RS state, training 374 community health agents. The number of correct answers in the pre-test (n = 339) was 8,4 (SD 1.2), while in the post-test (n = 361) it was 9,2 (SD 0.8). Statistical analysis showed that the educational intervention effectively provided information about genetic diseases to the participants. Considering that community health agents are of fundamental importance in the identification and prevention of diseases and in the better navigation of the patients on the SUS, these professionals play a key role in the field of rare genetic diseases, and continuous training strategies should be taken.

初级卫生保健(PHC)是病人进入巴西统一卫生系统(Sistema Único de Saúde-SUS)的门户,在识别潜在的遗传病患者、转诊至专业和三级卫生服务机构方面发挥着极其重要的作用。初级保健中心由一个多学科小组组成,其中包括与社区直接接触的社区保健员。针对在巴西南里奥格兰德州(RS)多个城市工作的社区保健员实施一项教育计划。培训的重点是遗传病,尤其是黏多醣症(MPS)患者的识别。培训前后分别进行了测试,以评估参加者在这两个时间段对该主题的了解程度。这项研究在塞族共和国的 8 个城市共举办了 10 期培训班,培训了 374 名社区卫生人员。前测(n = 339)的正确答案数为 8.4(标准差 1.2),后测(n = 361)的正确答案数为 9.2(标准差 0.8)。统计分析表明,教育干预有效地向参与者提供了有关遗传病的信息。考虑到社区卫生人员对疾病的识别和预防以及更好地引导病人就医具有根本性的重要意义,这些专业人员在罕见遗传病领域发挥着关键作用,因此应采取持续的培训策略。
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引用次数: 0
Advertisement by medical facilities as an opportunity route of APOE genetic testing in Japan: a website analysis. 医疗机构广告作为日本 APOE 基因检测的机会途径:网站分析。
IF 1.9 Q2 Medicine Pub Date : 2024-04-01 Epub Date: 2024-01-16 DOI: 10.1007/s12687-024-00697-9
Kenichiro Sato, Yoshiki Niimi, Ryoko Ihara, Atsushi Iwata, Takeshi Ikeuchi, Takeshi Iwatsubo

The APOE-ε4 allele(s) is a strong risk factor for Alzheimer's disease (AD). A significant point of access for this allele testing is through services provided by medical facilities in Japan, which advertise out-of-insurance APOE testing on their websites. There is a concern that website advertisements for APOE testing may influence the ability for individuals to adequately self-determine whether to undergo APOE testing. We conducted a cross-sectional survey on medical facility websites in Japan advertising APOE genetic testing. We predefined desirable features for advertisement descriptions based on legal regulations and guidelines published by relevant professional societies and evaluated each website according to these features. We identified 220 medical facilities that had posted advertisements on their websites for the provision of APOE genetic testing, of which 85% were small clinics. Contact information, details, and costs of testing were described in most of the websites. Meanwhile, features such as "explaining APOE as a risk gene," "notes on interpreting APOE results," or "explaining examination methods" (e.g., blood sampling) were described to a variable degree depending on individual facilities. "Notes on genetic testing" or "referring to genetic counseling" were hardly referred to, and specialists with appropriate expertise were considered to participate in clinical practice in approximately one-third of these facilities providing APOE testing services. These website evaluation results showed moderate to substantial reliability between independent raters. These results suggest that self-determination of pursuing out-of-insurance APOE testing at some medical facilities in Japan may possibly be influenced in an inappropriate manner, at least in its entry route of taking the test.

APOE-ε4 等位基因是阿尔茨海默病(AD)的一个重要风险因素。该等位基因检测的一个重要途径是日本医疗机构提供的服务,这些医疗机构在其网站上宣传保险外的 APOE 检测。有人担心,APOE检测的网站广告可能会影响个人充分自我决定是否进行APOE检测的能力。我们对日本医疗机构网站上的APOE基因检测广告进行了横断面调查。我们根据相关专业协会发布的法律法规和指南,预先设定了广告描述的理想特征,并根据这些特征对每个网站进行了评估。我们发现有 220 家医疗机构在其网站上发布了提供 APOE 基因检测的广告,其中 85% 为小型诊所。大多数网站都介绍了检测的联系方式、细节和费用。同时,"解释 APOE 作为风险基因"、"解释 APOE 结果的注意事项 "或 "解释检查方法"(如抽血)等功能的描述程度因机构而异。"在这些提供 APOE 检测服务的机构中,约有三分之一的机构认为具有相应专业知识的专家参与了临床实践。这些网站评估结果显示,独立评分者之间存在中度至高度的可靠性。这些结果表明,在日本的一些医疗机构进行保险外 APOE 检测的自我决定可能会受到不适当方式的影响,至少在参加检测的途径上是如此。
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引用次数: 0
Development of a culturally targeted chatbot to inform living kidney donor candidates of African ancestry about APOL1 genetic testing: a mixed methods study. 开发具有文化针对性的聊天机器人,为非洲裔活体肾脏捐献者候选人提供有关 APOL1 基因检测的信息:一项混合方法研究。
IF 1.9 Q2 Medicine Pub Date : 2024-04-01 Epub Date: 2024-02-13 DOI: 10.1007/s12687-024-00698-8
Elisa J Gordon, Jessica Gacki-Smith, Matthew J Gooden, Preeya Waite, Rochell Yacat, Zenab R Abubakari, Debra Duquette, Akansha Agrawal, John Friedewald, Sarah K Savage, Matthew Cooper, Alexander Gilbert, Lutfiyya N Muhammad, Catherine Wicklund

Clinical chatbots are increasingly used to help integrate genetic testing into clinical contexts, but no chatbot exists for Apolipoprotein L1 (APOL1) genetic testing of living kidney donor (LKD) candidates of African ancestry. Our study aimed to culturally adapt and assess perceptions of the Gia® chatbot to help integrate APOL1 testing into LKD evaluation. Ten focus groups and post-focus group surveys were conducted with 54 LKDs, community members, and kidney transplant recipients of African ancestry. Data were analyzed through thematic analysis and descriptive statistics. Key themes about making Gia culturally targeted included ensuring: (1) transparency by providing Black LKDs' testimonials, explaining patient privacy and confidentiality protections, and explaining how genetic testing can help LKD evaluation; (2) content is informative by educating Black LKDs about APOL1 testing instead of aiming to convince them to undergo testing, presenting statistics, and describing how genetic discrimination is legally prevented; and (3) content avoids stigma about living donation in the Black community. Most agreed Gia was neutral and unbiased (82%), trustworthy (82%), and words, phrases, and expressions were familiar to the intended audience (85%). Our culturally adapted APOL1 Gia chatbot was well regarded. Future research should assess how this chatbot could supplement provider discussion prior to genetic testing to scale APOL1 counseling and testing for LKD candidate clinical evaluation.

临床聊天机器人越来越多地被用于帮助将基因检测整合到临床环境中,但目前还没有聊天机器人用于非洲裔活体肾脏捐献者(LKD)候选人的载脂蛋白 L1(APOL1)基因检测。我们的研究旨在对 Gia® 聊天机器人进行文化调整和评估,以帮助将载脂蛋白 L1 检测纳入 LKD 评估。我们与 54 名非洲裔 LKD、社区成员和肾移植受者进行了 10 次焦点小组讨论和焦点小组讨论后调查。通过主题分析和描述性统计对数据进行了分析。关于如何使 Gia 具有文化针对性的关键主题包括:(1)通过提供黑人 LKD 的见证、解释患者隐私和保密保护措施以及说明基因检测如何帮助 LKD 评估,确保透明度;(2)通过向黑人 LKD 介绍 APOL1 检测而不是说服他们接受检测、提供统计数据以及说明如何从法律上防止基因歧视,确保内容具有信息性;以及(3)内容避免黑人社区对活体捐献的污名化。大多数人认为 Gia 是中立和无偏见的(82%),值得信赖(82%),字词、短语和表达方式为目标受众所熟悉(85%)。我们经过文化调整的 APOL1 Gia 聊天机器人广受好评。未来的研究应评估该聊天机器人如何在基因检测前对提供者的讨论进行补充,从而为 LKD 候选者的临床评估提供 APOL1 咨询和检测。
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引用次数: 0
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Journal of Community Genetics
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