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Do not overlook the possibility of genome-edited somatic cells ending up in the human germline. 不要忽视基因组编辑的体细胞最终进入人类生殖系的可能性。
IF 1.5 Q4 GENETICS & HEREDITY Pub Date : 2024-10-09 DOI: 10.1007/s12687-024-00741-8
Alexis Heng Boon Chin, Ningyu Sun

Most debates on human germline genome editing have limited discussions to just genetic modifications of sperm and eggs (gametes), their precursors within testicular or ovarian tissues, and preimplantation human embryos. What has largely been overlooked is that genome editing of somatic (non-reproductive) cells can also become heritable and can potentially be transmitted to future generations of human offspring under specific experimental conditions, due to the emergence of various new technology platforms. Most notably, the reprogramming of human somatic cells to a pluripotent "embryonic stem cell-like" state (i.e. induced pluripotent stem cells), has opened up the possibility that genome editing performed on human somatic cells can also be transmitted to future generations of human offspring when combined with other new technology platforms, such as in vitro gametogenesis, chimeric and synthetic embryos. Additionally, due to high levels of plasticity and extensive tissue remodeling within the human fetus during gestation, it is speculated that genome editing performed on fetal somatic cells intended for fetal gene therapy in utero may be unintentionally transmitted to the human germline. Hence, there should be strict regulatory oversight to ensure that any genome-edited somatic cell that ends up in the human germline via such aforementioned technology platforms does so in strict compliance with relevant legislation and ethical guidelines, especially that pertaining to safety issues with genome editing technology and its potential misuse in human enhancement and eugenics.

关于人类生殖系基因组编辑的讨论大多局限于精子和卵子(配子)、其在睾丸或卵巢组织中的前体以及植入前人类胚胎的基因修饰。但被忽视的是,由于各种新技术平台的出现,体细胞(非生殖细胞)的基因组编辑也可以遗传,并有可能在特定的实验条件下遗传给人类的后代。最值得注意的是,将人类体细胞重编程为多能的 "类胚胎干细胞 "状态(即诱导多能干细胞),为在人类体细胞上进行的基因组编辑与体外配子、嵌合胚胎和合成胚胎等其他新技术平台结合使用提供了可能性。此外,由于人类胎儿在妊娠期间具有高度的可塑性和广泛的组织重塑,人们推测,在子宫内对胎儿体细胞进行基因组编辑以用于胎儿基因治疗,可能会无意中传播到人类生殖系。因此,应进行严格的监管,确保任何通过上述技术平台最终进入人类生殖系的基因组编辑体细胞都严格遵守相关法律和伦理准则,特别是有关基因组编辑技术的安全问题及其在人类增强和优生方面的潜在滥用。
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引用次数: 0
Negative results from DNA-based population screening for adult-onset diseases: the recipients' experience. 基于 DNA 的成人发病人群筛查的阴性结果:受试者的经验。
IF 1.5 Q4 GENETICS & HEREDITY Pub Date : 2024-10-07 DOI: 10.1007/s12687-024-00736-5
Felicia Russo, Debanjana Chatterjee, Natalia DeMaria, Michelle E Florido, Maddalena Marasa, Maya Sabatello, Julia Wynn, Hila Milo Rasouly

DNA-based population screening for adult-onset diseases holds promise for advancing personalized medicine and improving public health. Yet as most individuals pursuing such screening receive negative results, the return of results process must ensure that negative results and their implications are clearly understood. We explored the experiences of adults who received negative results from such screening as part of the Electronic Medical Records and Genomics consortium Phase 3 project (eMERGE-3) at Columbia University. In addition to a laboratory report and a standard counseling letter explaining the negative results, participants were randomized to receive (or not) a vignette explaining the results. A diverse cohort of 437 adult participants completed both baseline and post-result surveys. Many participants reported motivations that did not match the screening goals and included hope for diagnosis and family disease risk. A quarter of participants reported not feeling confident explaining their results to others (n = 105, 24%), and those who did not receive the vignette were less confident than those who did (29% versus 19% respectively; p-value = 0.02). Open-text responses about personal and family members' reactions to the results suggested that some perceived an exaggerated benefit from the negative result and might forgo more appropriate genetic testing. Our findings highlight the complexity of returning negative results and raise concerns that participants might forgo more suitable genetic testing. Future research is needed to compare the efficacy of different forms of ancillary materials on individuals' comprehension of negative results.

基于 DNA 的成人发病人群筛查有望推动个性化医疗和改善公共卫生。然而,由于大多数进行此类筛查的人都会得到阴性结果,因此结果返还程序必须确保阴性结果及其影响得到清楚的理解。作为哥伦比亚大学电子病历和基因组学联合会第三阶段项目(eMERGE-3)的一部分,我们探讨了从此类筛查中得到阴性结果的成年人的经历。除了实验室报告和解释阴性结果的标准咨询信外,参与者还被随机分配接受(或不接受)解释结果的小插图。437 名成年参与者完成了基线和结果后调查。许多参与者报告的动机与筛查目标不符,包括希望得到诊断和家族疾病风险。四分之一的参与者表示没有信心向他人解释自己的结果(n = 105,24%),没有收到小册子的参与者比收到小册子的参与者更没有信心(分别为 29% 和 19%;p 值 = 0.02)。关于个人和家庭成员对结果反应的开放文本回复表明,有些人认为阴性结果的益处被夸大了,因此可能会放弃更合适的基因检测。我们的研究结果突显了返回阴性结果的复杂性,并引发了参与者可能会放弃更合适的基因检测的担忧。未来的研究需要比较不同形式的辅助材料对个人理解阴性结果的效果。
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引用次数: 0
Sickle cell disease awareness and perception among Christian religious leaders in Accra Metropolis: a qualitative study. 阿克拉市基督教宗教领袖对镰状细胞病的认识和看法:一项定性研究。
IF 1.5 Q4 GENETICS & HEREDITY Pub Date : 2024-10-02 DOI: 10.1007/s12687-024-00738-3
Rebecca Okyere, Menford Owusu Ampomah, Gloria Achempim-Ansong, Luke Laari, Lillian Akorfa Ohene, Karl Atkin

Sickle Cell Disease (SCD) is a severe hemoglobin gene mutation disorder inherited from both parents. 2% of Ghanaian newborns are affected by SCD; one in three Ghanaians has the hemoglobin S gene. Christian religious leaders may play a role in the prevention of SCD through the promotion of genetic counseling, genotype screening for premarital couples, and offering counseling to couples on prenatal screening and diagnosis for SCD. However, little is known about the awareness and perception of SCD among Christian religious leaders in Ghana, and this study aims to explore these. This study adopted a qualitative descriptive design to explore the awareness and perception of SCD among Christian religious leaders in the capital city of Ghana. A purposive sampling technique selected 16 participants from churches under the main Christian groups. The participants were chosen based on their roles and responsibilities within their respective churches. Data was collected using a semi-structured interview guide, which included open-ended questions to encourage participants to share their thoughts and experiences. The interviews were conducted in a private setting to ensure confidentiality. The data was then analyzed using a thematic analysis approach, which involved identifying recurring themes and patterns in the participants' responses. The study's findings are crucial. They reveal a high awareness of SCD among Christian religious leaders, but also some misconceptions. Most of the religious leaders knew SCD was a genetic disease, although a few associated SCD with superstitious beliefs, poor dietary intake, and lifestyle. Some also stated that SCD was a disease of the blood group instead of the defective haemoglobin gene. They perceived SCD to be burdensome, disruptive, and draining, and they associated the disease with burnout in Persons Living with SCD (PLWSCD) and their families. The religious leaders had a good social network with PLWSCD, including family, friends, colleagues, and congregants. These findings underscore the need for intense education about SCD, especially among Christian religious leaders. It is crucial to engage all stakeholders to intensify public awareness and education about SCD while improving the management and social support systems available to PLWSCD and families. This includes the religious institution's leadership, PLWSCD and families, the Ministry of Health, Ghana Health Service, and the Ghana Education Service. As active stakeholders, religious leaders can play a vital role in supporting PLWSCD if they are equipped with the necessary knowledge about the condition. .

镰状细胞病(SCD)是一种严重的血红蛋白基因突变疾病,遗传自父母双方。2% 的加纳新生儿受到 SCD 的影响;每三个加纳人中就有一人带有 S 型血红蛋白基因。基督教宗教领袖可以通过推广遗传咨询、为婚前夫妇进行基因型筛查以及为夫妇提供产前筛查和 SCD 诊断方面的咨询,在预防 SCD 方面发挥作用。然而,人们对加纳基督教宗教领袖对 SCD 的认识和看法知之甚少,本研究旨在探讨这些问题。本研究采用了定性描述设计,以探讨加纳首都基督教宗教领袖对 SCD 的认识和看法。研究采用目的性抽样技术,从主要基督教团体下属的教堂中选出了 16 名参与者。这些参与者是根据他们在各自教会中的角色和职责选出的。数据收集采用了半结构化访谈指南,其中包括开放式问题,以鼓励参与者分享他们的想法和经验。访谈在私人环境中进行,以确保保密性。然后采用主题分析方法对数据进行了分析,包括从参与者的回答中找出重复出现的主题和模式。研究结果至关重要。它们揭示了基督教宗教领袖对 SCD 的高度认识,但也存在一些误解。大多数宗教领袖都知道 SCD 是一种遗传疾病,但也有少数人将 SCD 与迷信、不良饮食习惯和生活方式联系起来。有些人还说 SCD 是一种血型疾病,而不是血红蛋白基因缺陷疾病。他们认为 SCD 是一种负担、破坏性和耗费精力的疾病,并将这种疾病与 SCD 患者(PLWSCD)及其家人的职业倦怠联系在一起。宗教领袖们与 PLWSCD 有着良好的社会网络,包括家人、朋友、同事和教徒。这些发现强调了加强 SCD 相关教育的必要性,尤其是在基督教宗教领袖中。让所有利益相关者参与进来,加强公众对 SCD 的认识和教育,同时改善为 PLWSCD 及其家庭提供的管理和社会支持系统,这一点至关重要。这其中包括宗教机构的领导层、残疾人及其家庭、卫生部、加纳卫生服务机构和加纳教育服务机构。作为积极的利益相关者,宗教领袖如果掌握了有关 PLWSCD 的必要知识,就可以在支持 PLWSCD 方面发挥重要作用。.
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引用次数: 0
"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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Journal of Community Genetics
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