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"I don't think people should die young": perspectives of parents with children diagnosed with familial hypercholesterolemia. "我不认为人们应该英年早逝":子女被诊断出患有家族性高胆固醇血症的父母的观点。
IF 1.5 Q4 GENETICS & HEREDITY Pub Date : 2024-10-01 Epub Date: 2024-08-10 DOI: 10.1007/s12687-024-00725-8
Hsiao H Tsai, Jennifer L Young, Sara Cherny, Cat Davis Ahmed, Sadiya S Khan, Debra Duquette

Familial Hypercholesterolemia (FH) is an inherited disorder that significantly increases an individual's risk of developing premature cardiovascular disease (CVD). Early intervention involving lifestyle modification and medication is crucial in preventing CVD. Prior studies have shown that lipid-lowering therapy in children is safe and effective. Despite FH being a treatable and manageable condition, the condition is still underdiagnosed and undertreated. Universal lipid screening (ULS) in children has been recommended by some medical experts in the United States as a strategy to identify cases of FH and maximize the benefits of early invention. However, lipid screening is not routinely offered in pediatric clinics. This study aimed to explore parental experience with FH diagnosis in their children, identify key facilitators and barriers in children's diagnosis and care, and examine parental perspectives on ULS in children in the United States. A total of fourteen semi-structured interviews were conducted with participants recruited through the Family Heart Foundation. Thematic analysis identified three key themes: role of family history in facilitating child's FH diagnosis, barriers and challenges in post-diagnosis care, and attitudes towards ULS in children. All participants supported ULS in children and emphasized the value of early diagnosis and treatment for FH. However, a lack of guidance or referral after the child's diagnosis was a concern raised by many participants. This underscores the need for accessible and comprehensive care amid ongoing efforts to increase pediatric diagnosis of FH.

家族性高胆固醇血症(FH)是一种遗传性疾病,会大大增加患者过早罹患心血管疾病(CVD)的风险。改变生活方式和药物治疗的早期干预对于预防心血管疾病至关重要。先前的研究表明,儿童降脂治疗安全有效。尽管血脂过高是一种可治疗和可控制的疾病,但其诊断和治疗仍然不足。美国的一些医学专家建议在儿童中开展普遍血脂筛查(ULS),以此作为发现 FH 病例并最大限度地发挥早期发明疗效的一种策略。然而,儿科诊所并未常规提供血脂筛查。本研究旨在探讨美国父母对其子女进行 FH 诊断的经验,确定儿童诊断和护理的主要促进因素和障碍,并研究父母对儿童 ULS 的看法。通过家庭心脏基金会招募的参与者共进行了 14 次半结构式访谈。主题分析确定了三个关键主题:家族史在促进儿童 FH 诊断中的作用、诊断后护理中的障碍和挑战以及对儿童 ULS 的态度。所有与会者都支持对儿童进行超早期超声心动图检查,并强调了早期诊断和治疗先天性心脏病的价值。然而,许多与会者提出了儿童确诊后缺乏指导或转诊的问题。这突出表明,在不断努力提高 FH 儿童诊断率的同时,需要提供方便和全面的护理。
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引用次数: 0
What do women want to see in a personalized breast cancer risk report? A qualitative study of Asian women of two countries. 女性希望在个性化乳腺癌风险报告中看到什么?对两个国家的亚洲妇女进行的定性研究。
IF 1.5 Q4 GENETICS & HEREDITY Pub Date : 2024-10-01 Epub Date: 2024-09-25 DOI: 10.1007/s12687-024-00735-6
Fatma Aldila, Fiona Ng Fj, Jessica Audrienna, Lynn Lim Sj, Shannon Tang, Sabrina Gabriel Tanu, Eric Aria Fernandez, Faustina Audrey Agatha, Marco Wijaya, Stevany Tiurma Br Sormin, Levana Sani, Astrid Irwanto, Samuel J Haryono, Jingmei Li, Alexandre Chan, Mikael Hartman

A breast cancer risk assessment tool for Asian populations, incorporating Polygenic Risk Score and Gail Model algorithm, has been established and validated. However, effective methods for delivering personalized risk information remain underexplored. This study aims to identify and develop effective methods for conveying breast cancer risk information to Asian women. Through ten focus group discussions with 32 women in Indonesia and Singapore, we explored preferences for the presentation of risk information. Participants favored comprehensive reports featuring actionable steps, simplified language, non-intimidating visuals, and personalized risk reduction recommendations. Singaporean participants, more aware of breast cancer prevention, showed a lower likelihood of seeking follow-ups upon receiving low-risk results compared to Indonesians. Overall, participants found the reports useful and advocated for similar approaches in other disease assessments. Balancing content and complexity in reports is crucial, highlighting the need for improved patient understanding and engagement with healthcare providers. Future studies could explore physicians' roles in delivering personalized risk assessments for breast cancer prevention.

针对亚洲人群的乳腺癌风险评估工具已建立并通过验证,该工具结合了多基因风险评分和盖尔模型算法。然而,传递个性化风险信息的有效方法仍未得到充分探索。本研究旨在确定和开发向亚洲女性传递乳腺癌风险信息的有效方法。通过与印度尼西亚和新加坡的 32 名妇女进行 10 次焦点小组讨论,我们探讨了她们对风险信息呈现方式的偏好。参与者更喜欢全面的报告,其中包括可操作的步骤、简化的语言、非恐吓性的视觉效果以及个性化的降低风险建议。与印尼人相比,新加坡人的乳腺癌预防意识更强,但在收到低风险结果后寻求后续治疗的可能性较低。总的来说,参与者认为报告很有用,并主张在其他疾病评估中采用类似的方法。平衡报告的内容和复杂性至关重要,这突出表明需要加强患者对医疗服务提供者的理解和参与。未来的研究可以探讨医生在提供个性化风险评估以预防乳腺癌方面的作用。
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引用次数: 0
Barriers, motivators and strategies to increase participation in genetic research among Asian and Black families of autistic individuals. 提高亚裔和黑人自闭症患者家庭参与基因研究的障碍、动力和策略。
IF 1.5 Q4 GENETICS & HEREDITY Pub Date : 2024-10-01 Epub Date: 2024-08-13 DOI: 10.1007/s12687-024-00724-9
Maira Tafolla, Raquel Amador, Motunrayo J Oyeyemi, Zach Algaze, Juhi Pandey, Robin P Goin-Kochel, Dustin E Sarver, Amanda Gulsrud

Genetic research can help advance our knowledge of autism and positively impact the progress of care for individuals with autism. Asian American and Pacific Islander (AAPI) and Black participants remain significantly underrepresented in genetic research in autism in the United States, including nationwide, multisite, genetic consortiums like Simons Foundation Powering Autism Research for Knowledge (SPARK). Few studies have explored the unique motivators and barriers that influence participation in genetics research across underrepresented groups with autism and strategies to increase participation. Therefore, the aim of this study was to understand the perspectives of AAPI and Black parents of individuals with autism about participating in genetic research, specifically motivators (e.g., desire to know more about the relationship between autism and genetics) and/or barriers (e.g., mistrust of research staff) that may impact their decision to participate in genetic research. Using a mixed-methods approach, we collected surveys (n = 134) across the United States and conducted three focus groups with parents of individuals with autism (n = 16) who identified as AAPI and Black from two large metropolitan cities. No significant differences were observed in the survey data but findings from the focus groups elucidate shared motivators for participation (e.g., to help advance the autism field for future generations) and nuanced differences in barriers that influence Black and AAPI parents' decision to participate (e.g., different beliefs about the source of autism). Practical suggestions to improve outreach and study engagement in genetic research in autism were identified and discussed.

基因研究有助于增进我们对自闭症的了解,并对自闭症患者的治疗进展产生积极影响。在美国,亚裔美国人和太平洋岛民(AAPI)以及黑人参与者参与自闭症遗传学研究的人数仍然严重不足,包括像西蒙斯基金会推动自闭症知识研究(SPARK)这样的全国性、多地点遗传学联盟。很少有研究探讨影响自闭症患者参与遗传学研究的独特动机和障碍,以及提高参与率的策略。因此,本研究旨在了解亚裔美国人和黑人自闭症患者家长对参与遗传学研究的看法,特别是可能影响他们决定参与遗传学研究的动机(如希望更多地了解自闭症与遗传学之间的关系)和/或障碍(如对研究人员的不信任)。我们采用混合方法,在美国各地收集了调查问卷(n = 134),并与两个大都市中自闭症患者的父母(n = 16)(他们被认定为亚裔美国人和黑人)进行了三次焦点小组讨论。调查数据未发现明显差异,但焦点小组的研究结果阐明了共同的参与动机(例如,帮助后代推动自闭症领域的发展),以及影响黑人和亚裔美国人家长决定参与的障碍的细微差别(例如,对自闭症来源的不同看法)。会议确定并讨论了改进自闭症基因研究的外联和研究参与的实用建议。
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引用次数: 0
Correction: Improving the communication of multifactorial cancer risk assessment results for different audiences: a co-design process. 更正:针对不同受众改进多因素癌症风险评估结果的传播:共同设计过程。
IF 1.5 Q4 GENETICS & HEREDITY Pub Date : 2024-10-01 DOI: 10.1007/s12687-024-00745-4
Francisca Stutzin Donoso, Tim Carver, Lorenzo Ficorella, Nichola Fennell, Antonis C Antoniou, Douglas F Easton, Marc Tischkowitz, Fiona M Walter, Juliet A Usher-Smith, Stephanie Archer
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引用次数: 0
The importance of geographic and sociodemographic aspects in the characterization of mucopolysaccharidoses: a case series from Ceará state (Northeast Brazil). 地理和社会人口因素对粘多糖病特征的重要性:塞阿拉州(巴西东北部)的病例系列。
IF 1.5 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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Journal of Community Genetics
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