Journal of Community Genetics最新文献

筛选
英文 中文
Benefits and concerns of expanded carrier screening: what do pregnant Latina women in Texas think? 扩大携带者筛查的好处和担忧:德克萨斯州的拉丁裔孕妇怎么看?
IF 1.9
Journal of Community Genetics Pub Date : 2023-12-01 Epub Date: 2023-10-14 DOI: 10.1007/s12687-023-00676-6
Embedzayi Madhiri, Haocen Wang, Melodie Tedross, Victoria Vidal, Christine Young, Denise Martinez, Wei-Ju Chen, Patricia Robbins-Furman, Robin Page, Nora Montalvo-Liendo, Lei-Shih Chen
{"title":"Benefits and concerns of expanded carrier screening: what do pregnant Latina women in Texas think?","authors":"Embedzayi Madhiri, Haocen Wang, Melodie Tedross, Victoria Vidal, Christine Young, Denise Martinez, Wei-Ju Chen, Patricia Robbins-Furman, Robin Page, Nora Montalvo-Liendo, Lei-Shih Chen","doi":"10.1007/s12687-023-00676-6","DOIUrl":"10.1007/s12687-023-00676-6","url":null,"abstract":"<p><p>The American College of Medical Genetics and Genomics (ACMG) recommends carrier screening for all pregnant women regardless of race or ethnicity. In recent years, the ACMG broadened the guidelines to include expanded carrier screening (ECS) which can screen for 112 conditions. This study seeks to explore the perceptions of pregnant Latina women about the benefits and concerns related to ECS use. Partnering with prenatal clinics in Texas, we conducted semi-structured qualitative interviews with 32 pregnant Latina women in their second or third trimester of pregnancy. NVivo 8 was used to conduct content analysis and emergent coding of the data. Participants reported the benefits of ECS as helping them prepare for the baby's arrival, informing them of the baby's risk for genetic conditions, ensuring the health of their baby, and preventing diseases before birth. The ECS-related concerns expressed by the participants included worries surrounding potential positive ECS results, insufficient knowledge about the genetic diseases screened for by ECS, the accuracy of the ECS, the potential harm ECS may cause the baby, and the affordability of ECS. After weighing both their perceived benefits and concerns, nearly all the participants believed that ECS should be offered to all pregnant women. This study contributes to an understudied research area in the genetic/genomic field. Our findings can help increase the awareness of obstetricians, genetic professionals, and other healthcare providers regarding pregnant Latina women's views on ECS and inform the design of culturally appropriate care as ECS is adopted into routine clinical practice.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"605-612"},"PeriodicalIF":1.9,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10725381/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41215906","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: 1
Prevalence of beta thalassemia carriers in India: a systematic review and meta-analysis. 印度β地中海贫血携带者的患病率:一项系统综述和荟萃分析。
IF 1.9
Journal of Community Genetics Pub Date : 2023-12-01 Epub Date: 2023-10-20 DOI: 10.1007/s12687-023-00683-7
Dharmarajan Sumedha, Kar Anita
{"title":"Prevalence of beta thalassemia carriers in India: a systematic review and meta-analysis.","authors":"Dharmarajan Sumedha, Kar Anita","doi":"10.1007/s12687-023-00683-7","DOIUrl":"10.1007/s12687-023-00683-7","url":null,"abstract":"<p><p>A large number of studies have reported that the prevalence of beta thalassemia carriers in India varies by ethnic groups. The objective of this study was to conduct a systematic review of the published studies and conduct a meta-analysis to determine the prevalence of beta thalassaemia carriers in India. A PubMed database search using keywords \"beta thalassaemia AND India\" identified 1088 articles of which 69 articles were included in the review. Studies using diagnostic tests and methods recommended by the International Council for Standardization in Haematology were used for calculation of pooled prevalence. Pooled prevalence was calculated using a random effects model using Review Manager version 5.3. Studies had screened five categories of populations, that is, the general population; tribal groups, communities not belonging to tribal groups, persons with anemia, and persons referred with a suspicion of hemoglobinopathy. This heterogeneity contributed to a high pooled prevalence of beta thalassemia carriers of 8.23% (95% CI 7.36-9.10). Sub-group analysis however yielded 3.74% (95% CI 2.52-4.97) pooled prevalence of beta thalassemia carriers in the general population. It was 4.6% (95% CI 3.2-6.2) among tribal groups. Quality of prevalence studies was limited by methodological issues including non-random sampling methods, heterogeneity of population types screened, and lack of use of recommended diagnostic cut-offs. Prevalence of beta thalassemia carriers was similar in tribal populations and the general population, indicating the need to further investigate the prevalence of beta thalassemia carriers in tribal groups.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"527-541"},"PeriodicalIF":1.9,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10725409/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49683513","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
Genetic risk prediction in Hispanics/Latinos: milestones, challenges, and social-ethical considerations. 西班牙裔/拉丁裔的遗传风险预测:里程碑、挑战和社会伦理考虑。
IF 1.9
Journal of Community Genetics Pub Date : 2023-12-01 Epub Date: 2023-11-14 DOI: 10.1007/s12687-023-00686-4
Betzaida L Maldonado, Daniel G Piqué, Robert C Kaplan, Katrina G Claw, Christopher R Gignoux
{"title":"Genetic risk prediction in Hispanics/Latinos: milestones, challenges, and social-ethical considerations.","authors":"Betzaida L Maldonado, Daniel G Piqué, Robert C Kaplan, Katrina G Claw, Christopher R Gignoux","doi":"10.1007/s12687-023-00686-4","DOIUrl":"10.1007/s12687-023-00686-4","url":null,"abstract":"<p><p>Genome-wide association studies (GWAS) have allowed the identification of disease-associated variants, which can be leveraged to build polygenic scores (PGSs). Even though PGSs can be a valuable tool in personalized medicine, their predictive power is limited in populations of non-European ancestry, particularly in admixed populations. Recent efforts have focused on increasing racial and ethnic diversity in GWAS, thus, addressing some of the limitations of genetic risk prediction in these populations. Even with these efforts, few studies focus exclusively on Hispanics/Latinos. Additionally, Hispanic/Latino populations are often considered a single population despite varying admixture proportions between and within ethnic groups, diverse genetic heterogeneity, and demographic history. Combined with highly heterogeneous environmental and socioeconomic exposures, this diversity can reduce the transferability of genetic risk prediction models. Given the recent increase of genomic studies that include Hispanics/Latinos, we review the milestones and efforts that focus on genetic risk prediction, summarize the potential for improving PGS transferability, and highlight the challenges yet to be addressed. Additionally, we summarize social-ethical considerations and provide ideas to promote genetic risk prediction models that can be implemented equitably.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"543-553"},"PeriodicalIF":1.9,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10725387/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"92156884","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 CPT1A Arctic variant: perspectives of community members and providers in two Alaska tribal health settings. CPT1A北极变体:阿拉斯加两个部落卫生环境中社区成员和提供者的观点。
IF 1.9
Journal of Community Genetics Pub Date : 2023-12-01 Epub Date: 2023-10-17 DOI: 10.1007/s12687-023-00684-6
Julie A Beans, Susan Brown Trinidad, Aliassa L Shane, Kyle A Wark, Jaedon P Avey, Charlene Apok, Tiffany Guinn, Samantha Kleindienst Robler, Matthew Hirschfeld, David M Koeller, Denise A Dillard
{"title":"The CPT1A Arctic variant: perspectives of community members and providers in two Alaska tribal health settings.","authors":"Julie A Beans, Susan Brown Trinidad, Aliassa L Shane, Kyle A Wark, Jaedon P Avey, Charlene Apok, Tiffany Guinn, Samantha Kleindienst Robler, Matthew Hirschfeld, David M Koeller, Denise A Dillard","doi":"10.1007/s12687-023-00684-6","DOIUrl":"10.1007/s12687-023-00684-6","url":null,"abstract":"<p><p>Newborn screening in Alaska includes screening for carnitine palmitoyltransferase 1A (CPT1A) deficiency. The CPT1A Arctic variant is a variant highly prevalent among Indigenous peoples in the Arctic. In this study, we sought to elicit Alaska Native (AN) community member and AN-serving healthcare providers' knowledge and perspectives on the CPT1A Arctic variant. Focus groups with community members and healthcare providers were held in two regions of Alaska between October 2018 and January 2019. Thematic analysis was used to identify recurring constructs. Knowledge and understanding about the CPT1A Arctic variant and its health impact varied, and participants were interested in learning more about it. Additional education for healthcare professionals was recommended to improve providers' ability to communicate with family caregivers about the Arctic variant. Engagement with AN community members identified opportunities to improve educational outreach via multiple modalities for providers and caregivers on the Arctic variant, which could help to increase culturally relevant guidance and avoid stigmatization, undue worry, and unnecessary intervention. Education and guidance on the care of infants and children homozygous for the CPT1A Arctic variant could improve care and reduce negative psychosocial effects.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"613-620"},"PeriodicalIF":1.9,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10725401/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41239717","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: 1
Psychosocial impacts of caring for a child with a genetic disorder in Accra, Ghana. 加纳阿克拉照顾遗传病患儿的社会心理影响。
IF 1.9
Journal of Community Genetics Pub Date : 2023-12-01 Epub Date: 2023-08-15 DOI: 10.1007/s12687-023-00662-y
Paul Opoku, Annabella Osei-Tutu, Mabel Oti-Boadi
{"title":"Psychosocial impacts of caring for a child with a genetic disorder in Accra, Ghana.","authors":"Paul Opoku, Annabella Osei-Tutu, Mabel Oti-Boadi","doi":"10.1007/s12687-023-00662-y","DOIUrl":"10.1007/s12687-023-00662-y","url":null,"abstract":"<p><p>Caregivers caring for a child with a genetic condition may experience psychosocial distress, which may be compounded by the context in which the caring takes place. Few studies have examined psychosocial distress and support among caregivers caring for a child with a genetic disorder in low-middle-income countries such as Ghana. The purpose of the current study was to investigate the psychosocial impacts of caring for a child with a genetic disorder in an urban setting in Ghana's capital, Accra. We conducted individual interviews among 17 caregivers who were taking care of children with various genetic disorders including, albinism, Edward's syndrome, osteogenesis imperfecta, sickle cell disease, and spondyloepiphyseal dysplasia congenita. Thematic analysis of the data revealed three main themes on the psychosocial impacts, including: (1) self-blame, guilt, and shame; (2) sleep and mood disturbances; and (3) discrimination and stigmatization. We observed three themes about support: (1) psychological support; (2) family and community support; and (3) institutional support. Participants reported limited support from professionals such as psychologists. Discussion focuses on the supportive care needs of caregivers and implications for genetic counselling awareness, advocacy, and training.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"565-574"},"PeriodicalIF":1.9,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10725383/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10001109","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: 1
Clinical utility of polygenic risk scores: a critical 2023 appraisal. 多基因风险评分的临床实用性:2023年的关键评估。
IF 1.9
Journal of Community Genetics Pub Date : 2023-10-01 Epub Date: 2023-05-03 DOI: 10.1007/s12687-023-00645-z
Sebastian Koch, Jörg Schmidtke, Michael Krawczak, Amke Caliebe
{"title":"Clinical utility of polygenic risk scores: a critical 2023 appraisal.","authors":"Sebastian Koch,&nbsp;Jörg Schmidtke,&nbsp;Michael Krawczak,&nbsp;Amke Caliebe","doi":"10.1007/s12687-023-00645-z","DOIUrl":"10.1007/s12687-023-00645-z","url":null,"abstract":"<p><p>Since their first appearance in the context of schizophrenia and bipolar disorder in 2009, polygenic risk scores (PRSs) have been described for a large number of common complex diseases. However, the clinical utility of PRSs in disease risk assessment or therapeutic decision making is likely limited because PRSs usually only account for the heritable component of a trait and ignore the etiological role of environment and lifestyle. We surveyed the current state of PRSs for various diseases, including breast cancer, diabetes, prostate cancer, coronary artery disease, and Parkinson disease, with an extra focus upon the potential improvement of clinical scores by their combination with PRSs. We observed that the diagnostic and prognostic performance of PRSs alone is consistently low, as expected. Moreover, combining a PRS with a clinical score at best led to moderate improvement of the power of either risk marker. Despite the large number of PRSs reported in the scientific literature, prospective studies of their clinical utility, particularly of the PRS-associated improvement of standard screening or therapeutic procedures, are still rare. In conclusion, the benefit to individual patients or the health care system in general of PRS-based extensions of existing diagnostic or treatment regimens is still difficult to judge.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"471-487"},"PeriodicalIF":1.9,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10576695/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9400035","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: 4
Ethical, legal, and social implications of genetic risk prediction for multifactorial disease: a narrative review identifying concerns about interpretation and use of polygenic scores. 多因素疾病遗传风险预测的伦理、法律和社会影响:一项叙述性综述,确定了对多基因评分的解释和使用的担忧。
IF 1.9
Journal of Community Genetics Pub Date : 2023-10-01 Epub Date: 2022-12-19 DOI: 10.1007/s12687-022-00625-9
Carolyn Riley Chapman
{"title":"Ethical, legal, and social implications of genetic risk prediction for multifactorial disease: a narrative review identifying concerns about interpretation and use of polygenic scores.","authors":"Carolyn Riley Chapman","doi":"10.1007/s12687-022-00625-9","DOIUrl":"10.1007/s12687-022-00625-9","url":null,"abstract":"<p><p>Advances in genomics have enabled the development of polygenic scores (PGS), sometimes called polygenic risk scores, in the context of multifactorial diseases and disorders such as cancer, cardiovascular disease, and schizophrenia. PGS estimate an individual's genetic predisposition, as compared to other members of a population, for conditions which are influenced by both genetic and environmental factors. There is significant interest in using genetic risk prediction afforded through PGS in public health, clinical care, and research settings, yet many acknowledge the need to thoughtfully consider and address ethical, legal, and social implications (ELSI). To contribute to this effort, this paper reports on a narrative review of the literature, with the aim of identifying and categorizing ELSI relating to genetic risk prediction in the context of multifactorial disease, which have been raised by scholars in the field. Ninety-two articles, spanning from 1977 to 2021, met the inclusion criteria for this study. Identified ELSI included potential benefits, challenges and risks that focused on concerns about interpretation and use, and ethical obligations to maximize benefits, minimize risks, promote justice, and support autonomy. This research will support geneticists, clinicians, genetic counselors, patients, patient advocates, and policymakers in recognizing and addressing ethical concerns associated with PGS; it will also guide future empirical and normative research.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"441-452"},"PeriodicalIF":1.9,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10576696/pdf/12687_2022_Article_625.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10380742","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: 2
What makes a good life: using theatrical performance to enhance communication about polygenic risk scores research in patient and public involvement. 美好生活的意义:利用戏剧表演加强患者和公众参与中多基因风险评分研究的沟通。
IF 1.5
Journal of Community Genetics Pub Date : 2023-10-01 Epub Date: 2023-02-10 DOI: 10.1007/s12687-023-00635-1
Amy M Mason, Ifunanya Obi, Olamide Ayodele, Samuel A Lambert, Sarah Fahle
{"title":"What makes a good life: using theatrical performance to enhance communication about polygenic risk scores research in patient and public involvement.","authors":"Amy M Mason, Ifunanya Obi, Olamide Ayodele, Samuel A Lambert, Sarah Fahle","doi":"10.1007/s12687-023-00635-1","DOIUrl":"10.1007/s12687-023-00635-1","url":null,"abstract":"<p><p>The aim of this patient and public involvement and engagement (PPIE) work was to explore improvised theatre as a tool for facilitating bi-directional dialogue between researchers and patients/members of the public on the topic of polygenic risk scores (PRS) use within primary or secondary care. PRS are a tool to quantify genetic risk for a heritable disease or trait and may be used to predict future health outcomes. In the United Kingdom (UK), they are often cited as a next-in-line public health tool to be implemented, and their use in consumer genetic testing as well as patient-facing settings is increasing. Despite their potential clinical utility, broader themes about how they might influence an individual's perception of disease risk and decision-making are an active area of research; however, this has mostly been in the setting of return of results to patients. We worked with a youth theatre group and patients involved in a PPIE group to develop two short plays about public perceptions of genetic risk information that could be captured by PRS. These plays were shared in a workshop with patients/members of the public to facilitate discussions about PRS and their perceived benefits, concerns and emotional reactions. Discussions with both performers and patients/public raised three key questions: (1) can the data be trusted?; (2) does knowing genetic risk actually help the patient?; and (3) what makes a life worthwhile? Creating and watching fictional narratives helped all participants explore the potential use of PRS in a clinical setting, informing future research considerations and improving communication between the researchers and lay members of the PPIE group.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"453-458"},"PeriodicalIF":1.5,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10576689/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10742606","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
Are we nearly there yet? Starts and stops on the road to use of polygenic scores. 我们快到了吗?在道路上开始和停止使用多基因评分。
IF 1.9
Journal of Community Genetics Pub Date : 2023-10-01 DOI: 10.1007/s12687-023-00672-w
Sowmiya Moorthie, Daphne Oluwasen Martschenko, Segun Fatumo
{"title":"Are we nearly there yet? Starts and stops on the road to use of polygenic scores.","authors":"Sowmiya Moorthie,&nbsp;Daphne Oluwasen Martschenko,&nbsp;Segun Fatumo","doi":"10.1007/s12687-023-00672-w","DOIUrl":"10.1007/s12687-023-00672-w","url":null,"abstract":"","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"439-440"},"PeriodicalIF":1.9,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10576688/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41158033","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 role of polygenic risk scores in breast cancer risk perception and decision-making. 多基因风险评分在乳腺癌症风险认知和决策中的作用。
IF 1.5
Journal of Community Genetics Pub Date : 2023-10-01 Epub Date: 2023-06-13 DOI: 10.1007/s12687-023-00655-x
Leslie Riddle, Galen Joseph, Mikaella Caruncho, Barbara Ann Koenig, Jennifer Elyse James
{"title":"The role of polygenic risk scores in breast cancer risk perception and decision-making.","authors":"Leslie Riddle, Galen Joseph, Mikaella Caruncho, Barbara Ann Koenig, Jennifer Elyse James","doi":"10.1007/s12687-023-00655-x","DOIUrl":"10.1007/s12687-023-00655-x","url":null,"abstract":"<p><p>Polygenic risk scores (PRS) have the potential to improve the accuracy of clinical risk assessments, yet questions about their clinical validity and readiness for clinical implementation persist. Understanding how individuals integrate and act on the information provided by PRS is critical for their effective integration into routine clinical care, yet few studies have examined how individuals respond to the receipt of polygenic risk information. We conducted an embedded Ethical, Legal, and Social Implications (ELSI) study to examine if and how unaffected participants in a US population breast cancer screening trial understood and utilized PRS, as part of a multifactorial risk score combining traditional risk factors with a genetic risk assessment, to make screening and risk-reduction decisions. Semi-structured qualitative interviews were conducted with 24 trial participants who were designated at elevated risk for breast cancer due to their combined risk score. Interviews were analyzed using a grounded theory approach. Participants understood PRS conceptually and accepted it as one of many risk factors to consider, yet the value and meaning they ascribed to this risk estimate varied. Most participants reported financial and insurance barriers to enhanced screening with MRI and were not interested in taking risk-reducing medications. These findings contribute to our understanding of how PRS may be best translated from research to clinical care. Furthermore, they illuminate ethical concerns about identifying risk and making recommendations based on polygenic risk in a population screening context where many may have trouble accessing appropriate care.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"489-501"},"PeriodicalIF":1.5,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10576692/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9630345","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
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信