Journal of Community Genetics最新文献

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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
Journal of Community Genetics 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
{"title":"Growth in perceived clinical genetics competency among primary care providers participating in genomic population health screening.","authors":"Christina A Hansen, Aaron W Reiter, Robert S Wildin","doi":"10.1007/s12687-023-00675-7","DOIUrl":"10.1007/s12687-023-00675-7","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"33-37"},"PeriodicalIF":1.9,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10857985/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41169227","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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
Journal of Community Genetics Pub Date : 2024-02-01 Epub Date: 2023-10-05 DOI: 10.1007/s12687-023-00678-4
Simon Coghlan, Christopher Gyngell, Danya F Vears
{"title":"Ethics of artificial intelligence in prenatal and pediatric genomic medicine.","authors":"Simon Coghlan, Christopher Gyngell, Danya F Vears","doi":"10.1007/s12687-023-00678-4","DOIUrl":"10.1007/s12687-023-00678-4","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"13-24"},"PeriodicalIF":1.5,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10857992/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41147898","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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
Journal of Community Genetics 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
{"title":"Latina immigrants' breast and colon cancer causal attributions: genetics is key.","authors":"Katie Fiallos, Jill Owczarzak, Joann Bodurtha, Sonia Margarit, Lori H Erby","doi":"10.1007/s12687-023-00681-9","DOIUrl":"10.1007/s12687-023-00681-9","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"59-73"},"PeriodicalIF":1.9,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10857993/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138463539","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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
Journal of Community Genetics 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
{"title":"Receiving de novo genetic diagnoses for autism with intellectual disability: parents' views of impacts on families' reproductive decisions.","authors":"Robert Klitzman, Ekaterina Bezborodko, Wendy K Chung, Paul S Appelbaum","doi":"10.1007/s12687-023-00679-3","DOIUrl":"10.1007/s12687-023-00679-3","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"85-96"},"PeriodicalIF":1.9,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10857994/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41239716","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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
Journal of Community Genetics 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
{"title":"Healthcare and support experiences of adolescents and young adults diagnosed with 47,XXY, 47,XXX, and 48,XXYY.","authors":"Nivedita Ahlawat, Kathryn Elliott, Kelly E Ormond, Megan A Allyse, Kirsten A Riggan","doi":"10.1007/s12687-023-00682-8","DOIUrl":"10.1007/s12687-023-00682-8","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"75-83"},"PeriodicalIF":1.9,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10857988/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49683512","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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
Journal of Community Genetics 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
{"title":"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.","authors":"Kate P Shane-Carson, Douglas Smith, Angie Smith, Caroline Seeley","doi":"10.1007/s12687-023-00687-3","DOIUrl":"10.1007/s12687-023-00687-3","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"25-31"},"PeriodicalIF":1.9,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10857995/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"54231567","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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
Journal of Community Genetics 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
{"title":"\"There should be one spot that you can go:\" BRCA mutation carriers' perspectives on cancer risk management and a hereditary cancer registry.","authors":"J Hynes, L Dawson, M Seal, J Green, M Woods, H Etchegary","doi":"10.1007/s12687-023-00685-5","DOIUrl":"10.1007/s12687-023-00685-5","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"49-58"},"PeriodicalIF":1.9,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10858006/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49683511","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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
Journal of Community Genetics 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
{"title":"A qualitative exploration of interprofessional collaborative practice between genetic counselors and mental health providers","authors":"Claire Lily Martha Nusbaum, Megan Wirth, Dita Obler, K. Redlinger-Grosse, Allison L. Cirino","doi":"10.1007/s12687-023-00690-8","DOIUrl":"https://doi.org/10.1007/s12687-023-00690-8","url":null,"abstract":"","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"53 42","pages":""},"PeriodicalIF":1.9,"publicationDate":"2023-12-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138588087","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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
Journal of Community Genetics 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
{"title":"Experiences of cystic fibrosis newborn screening and genetic counseling.","authors":"Kimberly Foil, Lillian Christon, Cheryl Kerrigan, Patrick A Flume, Jaclyn Drinkwater, Sylvia Szentpetery","doi":"10.1007/s12687-023-00666-8","DOIUrl":"10.1007/s12687-023-00666-8","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"621-626"},"PeriodicalIF":1.9,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10725400/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10235644","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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
Journal of Community Genetics 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
{"title":"The Circassians and the Chechens in Jordan: results of a decade of epidemiological and genetic studies.","authors":"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","doi":"10.1007/s12687-023-00668-6","DOIUrl":"10.1007/s12687-023-00668-6","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"505-517"},"PeriodicalIF":1.9,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10725377/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10590228","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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