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Growth in perceived clinical genetics competency among primary care providers participating in genomic population health screening. 参与基因组人群健康筛查的初级保健提供者感知临床遗传学能力的增长。
IF 1.9 Q4 GENETICS & HEREDITY Pub Date : 2024-02-01 Epub Date: 2023-10-04 DOI: 10.1007/s12687-023-00675-7
Christina A Hansen, Aaron W Reiter, Robert S Wildin

Limited competency in genetics among primary care providers (PCPs) is a barrier to use of genetic information in healthcare. Formal genetics lessons require time and interest, and knowledge wanes. We hypothesized another path to competency: participation in our PCP-centered adult clinical genomic population health screening program. We asked participating Family Medicine PCPs about their perceptions of growth in their genetics competency. An anonymous, voluntary, cross-sectional survey was developed and distributed to PCPs offering the screening. Results were compiled after 3 weeks. PCPs rated several program resources for value and provided open-ended feedback. Seventy-five percent of respondents agreed that genetics is important to their practice. Eighty-seven percent felt that their knowledge of clinical genetics topics had grown. Eighty-seven percent perceived increased confidence in offering genetic testing and in discussing common genetic results with patients. Respondents gained appreciation for the scope of clinical utility that genetic information offers patients. Each education resource rated at least 3.75 out of 5 for contributing to genetics knowledge. The case-specific Genomic Medicine Action Plan rated highest in educational value, 4.5 out of 5. Most responding PCPs offering genomic population health screening perceived growth in their genetic competency and found hands-on, case-based resources most useful.

初级保健提供者(PCP)在遗传学方面的能力有限是在医疗保健中使用遗传信息的障碍。正规的遗传学课程需要时间和兴趣,而知识却在衰退。我们假设了另一条获得能力的途径:参与我们以PCP为中心的成人临床基因组人群健康筛查计划。我们询问了参与的家庭医学PCP对其遗传学能力增长的看法。制定了一项匿名、自愿的横断面调查,并分发给提供筛查的PCP。结果在3周后汇编。PCP对几个项目资源的价值进行了评估,并提供了开放式反馈。75%的受访者认为遗传学对他们的实践很重要。百分之八十七的人认为他们在临床遗传学方面的知识有所增长。87%的人认为提供基因检测和与患者讨论常见基因结果的信心增强。受访者对基因信息为患者提供的临床实用性范围表示赞赏。每个教育资源对遗传学知识的贡献至少为3.75分(满分5分)。针对具体病例的基因组医学行动计划的教育价值最高,为4.5分(满分5分)。提供基因组人群健康筛查的大多数有反应的PCP感知到他们的遗传能力的增长,并发现基于案例的实践资源最有用。
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引用次数: 0
Ethics of artificial intelligence in prenatal and pediatric genomic medicine. 人工智能在产前和儿科基因组医学中的伦理。
IF 1.5 Q4 GENETICS & HEREDITY Pub Date : 2024-02-01 Epub Date: 2023-10-05 DOI: 10.1007/s12687-023-00678-4
Simon Coghlan, Christopher Gyngell, Danya F Vears

This paper examines the ethics of introducing emerging forms of artificial intelligence (AI) into prenatal and pediatric genomic medicine. Application of genomic AI to these early life settings has not received much attention in the ethics literature. We focus on three contexts: (1) prenatal genomic sequencing for possible fetal abnormalities, (2) rapid genomic sequencing for critically ill children, and (3) reanalysis of genomic data obtained from children for diagnostic purposes. The paper identifies and discusses various ethical issues in the possible application of genomic AI in these settings, especially as they relate to concepts of beneficence, nonmaleficence, respect for autonomy, justice, transparency, accountability, privacy, and trust. The examination will inform the ethically sound introduction of genomic AI in early human life.

本文探讨了将新兴形式的人工智能(AI)引入产前和儿科基因组医学的伦理问题。基因组人工智能在这些早期生活环境中的应用在伦理学文献中没有得到太多关注。我们关注三个方面:(1)可能的胎儿异常的产前基因组测序,(2)危重儿童的快速基因组测序,以及(3)出于诊断目的对从儿童获得的基因组数据进行再分析。该论文确定并讨论了基因组人工智能在这些环境中可能应用的各种伦理问题,特别是与慈善、非慈善、尊重自主、正义、透明度、问责制、隐私和信任等概念有关的问题。该检查将为在人类早期引入基因组人工智能提供合乎道德的信息。
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引用次数: 0
Latina immigrants' breast and colon cancer causal attributions: genetics is key. 拉丁裔移民乳腺癌和结肠癌的因果归因:遗传学是关键。
IF 1.9 Q4 GENETICS & HEREDITY Pub Date : 2024-02-01 Epub Date: 2023-11-30 DOI: 10.1007/s12687-023-00681-9
Katie Fiallos, Jill Owczarzak, Joann Bodurtha, Sonia Margarit, Lori H Erby

Latinos in the US suffer health disparities including stage of disease at time of breast or colon cancer diagnosis. Understanding Latinas' causal attributions of breast and colon cancer may provide insight into some of the individual level determinants of cancer disparities in this population. Cultural consensus analysis (CCA) is one way to study causal beliefs. The objective of this study was to describe Latina immigrants' causal attributions of breast and colon cancer. We conducted Spanish-language interviews with 22 Latina immigrants using a qualitative exploratory design comprised of freelisting, ranking, and open-ended questions. Participants freelisted causes and risk factors for breast and colon cancer then ranked risk factors according to their perceived role in the development of each cancer. CCA was conducted on rank orders to identify whether a cultural consensus model was present. Participants answered semi-structured, open-ended questions regarding the risk factors and rankings. Interviews were transcribed and subjected to thematic analysis. CCA showed no consensus around rank of causes for either cancer, and residual agreement analysis suggested the presence of two subcultural groups. "Genetics" and "hereditary factors" ranked first and second on average across participants for both cancers. Based on interview data, participants were less aware of colon cancer than breast cancer. Participants' endorsement of heredity as a cause of breast and colon cancer was similar to beliefs reported in studies of primarily non-Latina populations.

美国的拉丁美洲人在健康方面存在差异,包括乳腺癌或结肠癌诊断时的疾病阶段。了解拉丁美洲人对乳腺癌和结肠癌的因果归因可能有助于深入了解该人群中癌症差异的一些个体水平决定因素。文化共识分析(CCA)是研究因果信念的一种方法。本研究的目的是描述拉丁裔移民对乳腺癌和结肠癌的因果归因。我们使用由自由列表、排名和开放式问题组成的定性探索性设计对22名拉丁裔移民进行了西班牙语访谈。参与者自由列出乳腺癌和结肠癌的原因和风险因素,然后根据他们在每种癌症发展中的作用对风险因素进行排名。CCA按等级顺序进行,以确定是否存在文化共识模型。参与者回答了有关风险因素和排名的半结构化开放式问题。采访记录下来并进行专题分析。CCA对这两种癌症的病因排序没有一致意见,剩余一致性分析表明存在两个亚文化群体。“基因”和“遗传因素”在两种癌症的参与者中平均排名第一和第二。根据访谈数据,参与者对结肠癌的了解程度低于乳腺癌。参与者认同遗传是乳腺癌和结肠癌的原因,这与在主要是非拉丁裔人群的研究中报告的观点相似。
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引用次数: 0
Receiving de novo genetic diagnoses for autism with intellectual disability: parents' views of impacts on families' reproductive decisions. 接受智力残疾自闭症的新基因诊断:父母对家庭生育决策影响的看法。
IF 1.9 Q4 GENETICS & HEREDITY Pub Date : 2024-02-01 Epub Date: 2023-10-16 DOI: 10.1007/s12687-023-00679-3
Robert Klitzman, Ekaterina Bezborodko, Wendy K Chung, Paul S Appelbaum

Parents of children with autism who receive genetic diagnoses of de novo variants face challenges in understanding the implications for reproductive decision-making. We interviewed 28 parents who received de novo genetic diagnoses for their child's autism and intellectual disability (ID). These genetic variants proved to have reproductive implications for not only the child's parents, but the child and his/her neurotypical siblings, aunts, uncles, and cousins. Parents had often already finished building their families but varied, overall, in whether the results had affected, or might have influenced, their reproductive decisions. Parents' views were shaped by factors related to not only genetics, but also parental age, financial considerations, competing hopes and visions for their family's future, perceived abilities to care for an additional child with similar symptoms, and the extent of the child's symptoms. Members of a couple sometimes disagreed about whether to have more children. Parents pondered, too, the possibility of preimplantation genetic testing, though misunderstandings about it arose. Children with autism vary widely in their abilities to understand the reproductive implications of genetic diagnoses for themselves. Neurotypical offspring were much relieved to understand that their own children would not be affected. While some autism self-advocates have been concerned that genetic testing related to autism could lead to eugenics, the present data, concerning de novo genetic findings, raise other perspectives. These data, the first to explore several key aspects of the reproductive implications of genetic diagnoses for this group, have important implications for future practice, education, and research-e.g., concerning various family members.

接受新变异基因诊断的自闭症儿童的父母在理解其对生殖决策的影响方面面临挑战。我们采访了28位因孩子自闭症和智力残疾(ID)而接受新基因诊断的父母。事实证明,这些基因变异不仅对孩子的父母,而且对孩子及其神经正常的兄弟姐妹、阿姨、叔叔和表兄弟姐妹都有生殖影响。父母通常已经完成了家庭建设,但总体而言,结果是否影响或可能影响了他们的生育决定,各不相同。父母的观点不仅受到遗传因素的影响,还受到父母年龄、经济考虑、对家庭未来的相互竞争的希望和愿景、照顾另一个有类似症状的孩子的感知能力以及孩子症状程度的影响。一对夫妇的成员有时会在是否要更多孩子的问题上产生分歧。父母也在思考植入前基因检测的可能性,尽管人们对此产生了误解。自闭症儿童在理解基因诊断对自己生殖影响的能力方面差异很大。神经典型的后代知道自己的孩子不会受到影响后松了一口气。虽然一些自闭症自我倡导者担心与自闭症相关的基因测试可能会导致优生学,但目前关于新基因发现的数据提出了其他观点。这些数据首次探索了基因诊断对这一群体生殖影响的几个关键方面,对未来的实践、教育和研究——例如,涉及不同家庭成员——具有重要意义。
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引用次数: 0
Healthcare and support experiences of adolescents and young adults diagnosed with 47,XXY, 47,XXX, and 48,XXYY. 诊断为47,XXY,47,XXX和48,XXYY的青少年和年轻人的医疗保健和支持经历。
IF 1.9 Q4 GENETICS & HEREDITY Pub Date : 2024-02-01 Epub Date: 2023-10-21 DOI: 10.1007/s12687-023-00682-8
Nivedita Ahlawat, Kathryn Elliott, Kelly E Ormond, Megan A Allyse, Kirsten A Riggan

Sex chromosome aneuploidies (SCAs) are among the most common chromosomal conditions. There is little scholarship on how adolescents and young adults (AYAs) affected by SCA engage with and adapt to their diagnosis. In order to understand how AYAs adapt to a SCA diagnosis, we conducted a secondary analysis of qualitative interviews with AYAs. Eight in-depth semi-structured interviews with individuals with a diagnosis of 47,XXY, 47,XXX, and 48,XXYY were analyzed for iterative themes related to adaptation to a SCA diagnosis in accordance with standard qualitative methodology. Our findings suggest that the process of adaptation is highly variable and complex and is mediated by external factors including diagnosis delivery and community support. Factors associated with adaptation include feeling understood and supported by healthcare providers; researching the condition; receiving hormone replacement therapy; and receiving support from a community of peers. As access to prenatal and pediatric genetic testing continues to expand, non-genetic pediatric providers are increasingly likely to interact with individuals with SCAs as part of their initial diagnostic odyssey or ongoing medical management. Understanding the diversity of lived experiences of AYAs with SCAs is helpful for healthcare providers to facilitate holistic care and provide meaningful support to patients.

性染色体非整倍体(SCAs)是最常见的染色体疾病之一。关于受SCA影响的青少年和年轻人(AYA)如何参与和适应他们的诊断,几乎没有学术研究。为了了解AYA如何适应SCA诊断,我们对AYA进行了定性访谈的二次分析。根据标准定性方法,对诊断为47,XXY,47,XXX和48,XXYY的个体进行了八次深入的半结构化访谈,以分析与适应SCA诊断相关的迭代主题。我们的研究结果表明,适应过程是高度可变和复杂的,由外部因素介导,包括诊断提供和社区支持。与适应相关的因素包括感觉得到医疗保健提供者的理解和支持;研究条件;接受激素替代疗法;以及接受来自同行社区的支持。随着产前和儿科基因检测的机会不断扩大,非基因儿科提供者越来越有可能与SCAs患者互动,作为他们最初诊断之旅或持续医疗管理的一部分。了解患有SCAs的AYA的生活经历的多样性有助于医疗保健提供者促进整体护理并为患者提供有意义的支持。
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引用次数: 0
Retrospective chart analysis to determine the impact of a patient-facing digital risk stratification tool combined with a clinical screener for hereditary cancer genetic risk assessment triage in a community oncology clinic. 回顾性图表分析,以确定面向患者的数字风险分层工具与社区肿瘤诊所遗传性癌症遗传风险评估分诊的临床筛查人员相结合的影响。
IF 1.9 Q4 GENETICS & HEREDITY Pub Date : 2024-02-01 Epub Date: 2023-10-27 DOI: 10.1007/s12687-023-00687-3
Kate P Shane-Carson, Douglas Smith, Angie Smith, Caroline Seeley

The purpose of this study was to evaluate the utility of adding a clinical screener to the patient-facing digital risk stratification tool triage process for the identification of patients eligible for a genetic risk assessment for hereditary cancer. Digital risk stratification entries were retrospectively reviewed to determine the overall number of patients eligible for genetic risk assessment. These were also analyzed to determine how many patients were re-contacted by the clinical screener, and how many of those recontacted patients met criteria after their personal and family history was revised by the clinical screener. There was an 89.9% digital risk stratification triage tool completion rate, with 22.6% requiring contact from the clinical screener. Of the 640 patients who completed the digital tool, 5.9% met criteria for testing after their personal and/or family history was revised by the clinical screener. Overall, 51.1% of patients met criteria for a genetic risk assessment. The addition of a clinical screener further increased identification of patients eligible for genetic risk assessment. About half of patients who met criteria after being contacted by the clinical screener met criteria based on their personal diagnosis of cancer alone. Incorporation of a clinical screener to the digital screening process may serve to reduce barriers to patient completion of the tool and increase rates of patient identification for cancer genetic services.

本研究的目的是评估在面向患者的数字风险分层工具分诊过程中添加临床筛查器的实用性,以确定有资格进行遗传性癌症遗传风险评估的患者。对数字风险分层条目进行回顾性审查,以确定符合遗传风险评估条件的患者总数。还对这些进行了分析,以确定临床筛查人员重新接触了多少患者,以及在临床筛查人员修改了他们的个人和家族史后,这些重新接触的患者中有多少符合标准。数字风险分层分诊工具完成率为89.9%,22.6%需要临床筛查人员联系。在完成数字工具的640名患者中,5.9%的患者在临床筛查人员修改了他们的个人和/或家族史后符合检测标准。总体而言,51.1%的患者符合遗传风险评估标准。临床筛查的增加进一步增加了对符合遗传风险评估条件的患者的识别。在与临床筛查人员接触后符合标准的患者中,约有一半仅根据其个人对癌症的诊断符合标准。将临床筛查器纳入数字筛查过程可以减少患者完成该工具的障碍,并提高癌症基因服务的患者识别率。
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引用次数: 0
"There should be one spot that you can go:" BRCA mutation carriers' perspectives on cancer risk management and a hereditary cancer registry. “应该有一个地方你可以去:”BRCA突变携带者对癌症风险管理和遗传癌症登记的看法。
IF 1.9 Q4 GENETICS & HEREDITY Pub Date : 2024-02-01 Epub Date: 2023-10-21 DOI: 10.1007/s12687-023-00685-5
J Hynes, L Dawson, M Seal, J Green, M Woods, H Etchegary

Individuals who carry BRCA1 or BRCA2 pathogenic variants are recommended to have extensive cancer prevention screening and risk-reducing surgeries. Uptake of these recommendations is variable, and there remains room for improvement in the risk management of BRCA carriers. This paper explores female BRCA carriers' experiences with the current model of care and their perspectives on (and interest in) an inherited cancer registry. Findings can inform the development of a dedicated high-risk screening and management program for these patients. Quantitative and qualitative data were gathered through a provincial descriptive survey and semi-structured qualitative interviews to assess BRCA carriers' opinions toward risk management services in the province of Newfoundland and Labrador (NL), Canada. Survey (n = 69) and interview data (n = 15) revealed continuity and coordination challenges with the current system of care of high-risk individuals. Respondents suggested an inherited cancer registry would help identify high-risk individuals and provide a centralized system of risk management for identified carriers. Respondents identified concerns about the privacy of their registry data, including who could access it. Findings suggest BRCA carriers see great value in an inherited cancer registry. Specifically, participants noted it could provide a centralized system to help improve the coordination of burdensome, life-long risk management. Important patient concerns about protecting their privacy and their health data confidentiality must be addressed in patient and public information and informed consent documents about a registry.

建议携带BRCA1或BRCA2致病性变体的个人进行广泛的癌症预防筛查和降低风险的手术。接受这些建议的情况各不相同,BRCA携带者的风险管理仍有改进的空间。本文探讨了女性BRCA携带者在当前护理模式下的经验,以及她们对遗传性癌症登记的看法(和兴趣)。研究结果可以为这些患者制定专门的高风险筛查和管理计划提供信息。通过省级描述性调查和半结构化定性访谈收集定量和定性数据,以评估BRCA携带者对加拿大纽芬兰和拉布拉多省风险管理服务的意见。调查(n=69)和访谈数据(n=15)揭示了当前高危人群护理系统的连续性和协调性挑战。受访者表示,癌症遗传登记将有助于识别高危人群,并为已识别的携带者提供集中的风险管理系统。受访者对其登记数据的隐私表示担忧,包括谁可以访问这些数据。研究结果表明,BRCA携带者认为遗传癌症登记具有很大价值。具体而言,与会者指出,它可以提供一个集中的系统,帮助改善繁重的终身风险管理的协调。必须在患者和公共信息以及关于登记处的知情同意文件中解决患者对保护其隐私和健康数据机密性的重要担忧。
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引用次数: 0
A qualitative exploration of interprofessional collaborative practice between genetic counselors and mental health providers 遗传咨询师与心理健康服务提供者之间跨专业合作实践的定性探索
IF 1.9 Q4 GENETICS & HEREDITY Pub Date : 2023-12-08 DOI: 10.1007/s12687-023-00690-8
Claire Lily Martha Nusbaum, Megan Wirth, Dita Obler, K. Redlinger-Grosse, Allison L. Cirino
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引用次数: 0
Experiences of cystic fibrosis newborn screening and genetic counseling. 囊性纤维化新生儿筛查和遗传咨询经验。
IF 1.9 Q4 GENETICS & HEREDITY Pub Date : 2023-12-01 Epub Date: 2023-09-01 DOI: 10.1007/s12687-023-00666-8
Kimberly Foil, Lillian Christon, Cheryl Kerrigan, Patrick A Flume, Jaclyn Drinkwater, Sylvia Szentpetery

The South Carolina cystic fibrosis (CF) newborn screening (NBS) program changed in 2019 to include CFTR genotyping for babies with top 4% immunoreactive trypsinogen, which improves sensitivity and timeliness but increases carrier detection. Carrier identification has genetic implications for the family and parents of NBS+ babies have increased emotional distress. Genetic counseling (GC) may increase parent understanding and reduce anxiety yet is not uniformly offered at CF centers. We report our early results after implementing GC for NBS+ families at the time of sweat chloride testing based on GC availability, which resulted in an unselected GC- control arm. Sixteen mothers (GC+ = 9, GC- = 7) participated in an online survey about their experience. Responses were analyzed in aggregate and for differences between GC+ and GC- groups. All-respondent sadness and anxiety increased with notification of the NBS+ result and decreased after sweat test results. Anxiety and sadness were greater in GC- compared to GC+ until after the diagnosis was resolved, though emotional differences between the groups were not statistically significant. On a scale of 0 = not at all to 10 = extremely, GC was rated very helpful (mean 9.0, range 5-10), informative (mean 8.9, range 4-10), comforting (mean 9.1, range 6-10), and minimally distracting (mean 1.8, range 0-9). All participants correctly identified that a risk for a child to have CF exists when both parents are (at least) carriers. Delivery of NBS results to respondents varied by timing, informant, and information given. The child's pediatrician notified 10 (62.5%) of the NBS+ result. Parents felt they were notified in a timely manner (68.8%), by someone knowledgeable about NBS (62.5%), the sweat test (62.5%), CF (43.8%), and genetics (43.8%) and who cared about them (81.3%). Parents felt worried (81.3%), confused (81.3%), empowered (25%), and other (sad, shocked, scared, overwhelmed, devastated, defeated). Data from this single-center study suggest benefit of GC, that families would value earlier contact with an expert, and that prompt diagnostic resolution may reduce duration of parental distress.

2019年,南卡罗来纳州囊性纤维化(CF)新生儿筛查(NBS)计划发生了变化,包括对免疫反应性胰蛋白酶原最高4%的婴儿进行CFTR基因分型,这提高了灵敏度和及时性,但增加了携带者检测。携带者识别对NBS+婴儿的家庭和父母有遗传影响,增加了他们的情绪困扰。遗传咨询(GC)可以增加父母的理解,减少焦虑,但CF中心并没有统一提供。我们报告了在基于GC可用性的汗氯化物测试时对NBS+家庭实施GC后的早期结果,这导致了未选择的GC对照组。16位母亲(GC+=9,GC-=7)参加了一项关于她们经历的在线调查。对GC+组和GC-组的总体反应和差异进行分析。所有受访者的悲伤和焦虑随着NBS+结果的通知而增加,在汗液测试结果后减少。在诊断得到解决之前,GC-组的焦虑和悲伤程度高于GC+组,尽管两组之间的情绪差异没有统计学意义。在0=根本不到10=极端的范围内,GC被评为非常有用(平均值9.0,范围5-10)、信息丰富(平均值8.9,范围4-10)、舒适(平均值9.1,范围6-10)和最不分散注意力(平均值1.8,范围0-9)。所有参与者都正确地认识到,当父母双方(至少)都是携带者时,孩子患CF的风险是存在的。国家统计局向受访者提供的结果因时间、信息提供者和提供的信息而异。孩子的儿科医生通知了10名(62.5%)NBS+结果。父母认为他们得到了及时的通知(68.8%),得到了了解NBS(62.5%)、汗液测试(62.5%。这项单中心研究的数据表明,GC有好处,家庭会重视尽早与专家接触,及时的诊断解决可能会缩短父母痛苦的持续时间。
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引用次数: 0
The Circassians and the Chechens in Jordan: results of a decade of epidemiological and genetic studies. 约旦的切尔克斯人和车臣人:十年流行病学和遗传学研究成果。
IF 1.9 Q4 GENETICS & HEREDITY Pub Date : 2023-12-01 Epub Date: 2023-09-13 DOI: 10.1007/s12687-023-00668-6
Sara Abudahab, Nancy Hakooz, Laith Al-Etian, Kawkab Shishani, Adel Bashqawi, John Connolly, Joseph T Glessner, Hui-Qi Qu, Jingchun Qu, Hakon Hakonarson, Rana Dajani

Circassians and Chechens in Jordan, both with Caucasian ancestry, are genetically isolated due to high rate of endogamous marriages. Recent interest in these populations has led to studies on their genetic similarities, differences, and epidemiological differences in various diseases. Research has explored their predisposition to conditions like diabetes, hypertension, and cancer. Moreover, pharmacogenetic (PGx) studies have also investigated medication response variations within these populations, and forensic studies have further contributed to understanding these populations. In this review article, we first discuss the background of these minority groups. We then show the results of a principle component analysis (PCA) to investigate the genetic relationships between Circassian and Chechen populations living in Jordan. We here present a summary of the findings from the 10 years of research conducted on them. The review article provides a comprehensive summary of research findings that are truly valuable for understanding the unique genetic characteristics, diseases' prevalence, and medication responses among Circassians and Chechens living in Jordan. We believe that gaining deeper comprehension of the root causes of various diseases and developing effective treatment methods that benefit the society as a whole are imperative to engaging a wide range of ethnic groups in genetic research.

约旦的切尔克斯人和车臣人都有高加索人的血统,但由于同族通婚率很高,他们在遗传学上是孤立的。近来,人们对这些人群的兴趣导致了对他们在遗传方面的相似性、差异性以及各种疾病的流行病学差异的研究。研究探索了他们对糖尿病、高血压和癌症等疾病的易感性。此外,药物遗传学(PGx)研究也对这些人群的药物反应差异进行了调查,而法医研究则进一步促进了对这些人群的了解。在这篇综述文章中,我们首先讨论了这些少数群体的背景。然后,我们展示了对生活在约旦的切尔克斯人和车臣人的遗传关系进行原理成分分析(PCA)的结果。在此,我们总结了 10 年来对他们的研究成果。这篇综述文章对研究成果进行了全面总结,这些研究成果对于了解生活在约旦的切尔克斯人和车臣人的独特遗传特征、疾病发病率和用药反应具有真正的价值。我们相信,深入了解各种疾病的根本原因,并开发出有益于整个社会的有效治疗方法,是让广大族群参与基因研究的当务之急。
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引用次数: 0
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