Journal of Community Genetics最新文献

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Educational tools support informed decision-making for genetic carrier screening in a heterogenic Israeli population. 教育工具支持在以色列异源人群中进行基因携带者筛查的知情决策。
IF 1.9
Journal of Community Genetics Pub Date : 2024-04-01 Epub Date: 2023-12-20 DOI: 10.1007/s12687-023-00694-4
Chen Gafni-Amsalem, Olfat Aboleil-Zoubi, Elena Chervinsky, Ola Aleme, Morad Khayat, Husam Bashir, Lilach Peled Perets, Efrat Mamluk, Shadia Hakrosh, Shoshi Kurtzman, Liron Tamir, Ayelet Baram-Tsabari, Stavit A Shalev
{"title":"Educational tools support informed decision-making for genetic carrier screening in a heterogenic Israeli population.","authors":"Chen Gafni-Amsalem, Olfat Aboleil-Zoubi, Elena Chervinsky, Ola Aleme, Morad Khayat, Husam Bashir, Lilach Peled Perets, Efrat Mamluk, Shadia Hakrosh, Shoshi Kurtzman, Liron Tamir, Ayelet Baram-Tsabari, Stavit A Shalev","doi":"10.1007/s12687-023-00694-4","DOIUrl":"10.1007/s12687-023-00694-4","url":null,"abstract":"<p><p>Reproductive genetic carrier screening (RGCS) aims to provide couples with information to make informed decisions. Since 2013, the Israeli Carrier Screening Program has been offered routinely and free of charge to all Israelis of reproductive age, personalized based on religion, ethnicity, and village/tribe where a disorder is frequent. This study evaluated the impact of two educational tools on an informed choice on RGCS uptake and satisfaction with counselling within a heterogeneous population in northern Israel. Participants from diverse sociodemographic population groups were randomly assigned to watch an animated film, read a booklet conveying the same information, or receive no information before counselling for RGCS, and asked to complete pre- and post-counselling questionnaires. A higher informed-decision rate was demonstrated in the film (n=93/141, 66%) and booklet (n=88/131, 67%) groups vs. the non-intervention group (n=62/143, 43%) (P<0.001), assessed by the Multidimensional Measure of Informed Choice. Multivariate logistic regression analysis revealed that allocation to an intervention group, Jewish ethnicity and higher education level, best predicted informed choice. Most participants expressed high levels of satisfaction with the counselling process, regardless of group assignment. While only a minority of participants reported seeking information prior to visiting the clinic, the pre-counselling information interventions were well accepted. Pre-counselling self-learning educational tools should be promoted, easily available, and adjusted linguistically and culturally to targeted populations, to avoid unwanted \"automatic\" compliance of tested individuals and maximize the potential of informed decision-making. Our study can be applied to other countries where majority and minority ethnic groups access genetic services.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11031536/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138801714","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
Endline assessment of knowledge about sickle cell disease among the tribal community of Chhotaudepur district of Gujarat. 对古吉拉特邦 Chhotaudepur 地区部落社区镰状细胞病相关知识的最终评估。
IF 1.9
Journal of Community Genetics Pub Date : 2024-04-01 Epub Date: 2024-02-09 DOI: 10.1007/s12687-024-00699-7
Shaily B Surti, Ankita Parmar, Bontha V Babu, Geetika M Patel, Naresh Godara, Umang Mishra, Shubhangi Patel
{"title":"Endline assessment of knowledge about sickle cell disease among the tribal community of Chhotaudepur district of Gujarat.","authors":"Shaily B Surti, Ankita Parmar, Bontha V Babu, Geetika M Patel, Naresh Godara, Umang Mishra, Shubhangi Patel","doi":"10.1007/s12687-024-00699-7","DOIUrl":"10.1007/s12687-024-00699-7","url":null,"abstract":"<p><p>Sickle cell disease (SCD) is a significant public health concern in India, with one of the highest disability burdens worldwide. For the success of the disease prevention and control program that aims to reduce prevalence through health promotion and screening, the public's prior knowledge of the disease is important. Hence, this study was conducted to assess baseline knowledge of the disease and effects of health education and community mobilization program in the SCD endemic tribal community of Gujarat. This quasi-experimental study was conducted in three phases at Chhotaudepur district of Gujarat, India. Knowledge of the community was assessed through the administration of pretested quantitative questionnaire in 1646 and 1631 individuals respectively during formative and evaluation phases. Differences between the proportions of two phases were statistically assessed by chi-square tests. Despite 75.3% of respondents having heard of SCD before, only 20% could perceive the correct cause. It was improved by 42% post-intervention. During the evaluation, 83% respondents recognized the most common symptom of extreme pain, whereas 86.8% identified the correct diagnostic method. Seventy-seven percent respondents reported modern medicine as a treatment for SCD at endline. Knowledge and awareness about SCD were found inadequate in the community. However, health education intervention strategies effectively improved knowledge related to the disease and its causes, diagnosis, and treatment. Hence, urgent action is required to incorporate community mobilization and awareness generation strategies to mitigate the disease burden.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11031518/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139708196","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
Patient experiences in receiving telegenetics care for inherited cardiovascular diseases. 遗传性心血管疾病患者在接受遗传学治疗方面的经验。
IF 1.9
Journal of Community Genetics Pub Date : 2024-04-01 Epub Date: 2023-12-14 DOI: 10.1007/s12687-023-00693-5
Dani S Temares, Lusha W Liang, Amanda L Bergner, Muredach P Reilly, Isha Kalia
{"title":"Patient experiences in receiving telegenetics care for inherited cardiovascular diseases.","authors":"Dani S Temares, Lusha W Liang, Amanda L Bergner, Muredach P Reilly, Isha Kalia","doi":"10.1007/s12687-023-00693-5","DOIUrl":"10.1007/s12687-023-00693-5","url":null,"abstract":"<p><p>Telegenetics played an important role in providing genetic services to patients during the COVID-19 pandemic. In particular, at our institution, it enabled us to expand our genetic counseling and testing services to non-local family members of patients outside of our prior catchment area. However, as telegenetics continues to be utilized even as social distancing is no longer required, further information is needed regarding the impact of this modality on patient experience within cardiogenetics. This study qualitatively explored the experiences of 12 genotype positive individuals who underwent genetic counseling and testing via telegenetics during the first 22 months of the COVID-19 pandemic and compared the experiences of local vs. non-local patients. Both local and non-local participants discussed similar benefits and drawbacks to the use of technology in telegenetics and overall found the use of telegenetics and at-home genetic testing to be convenient. Both groups also noted having to make changes in their daily lives and future planning as a consequence of the positive genetic testing results. However, access to follow-up care differed between local and non-local participants, with more local participants having scheduled and attended appointments with the appropriate medical providers compared to non-local participants. Supplying non-local patients access to remote cardiogenetic testing may therefore require careful consideration in how to ensure proper follow-up care for genotype positive patients and may necessitate the involvement of national professional or patient-centered organizations to help streamline the referral process.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11031528/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138801727","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
Wikipedia as an academic service-learning tool in science and technology: higher education case from Siberia. 维基百科作为科技学术服务学习工具:来自西伯利亚的高等教育案例。
IF 1.9
Journal of Community Genetics Pub Date : 2024-04-01 Epub Date: 2023-12-21 DOI: 10.1007/s12687-023-00692-6
Ayla Arslan, Marko Turk
{"title":"Wikipedia as an academic service-learning tool in science and technology: higher education case from Siberia.","authors":"Ayla Arslan, Marko Turk","doi":"10.1007/s12687-023-00692-6","DOIUrl":"10.1007/s12687-023-00692-6","url":null,"abstract":"<p><p>Wikipedia, the open crowdsourced encyclopedia that anyone can edit, ranks among the top ten most-visited websites globally. Its integration into university curriculum as an innovative educational tool is a slowly growing trend; however, many higher education institutions have yet to fully grasp its potential. In response, a specific optional module for Wikipedia editing, designed for the selected undergraduate science courses at the School of Advanced Studies, Russia, was implemented as an optional extra credit service-learning activity, a teaching methodology combining meaningful service to the community with curriculum-based learning. Students who chose to participate and those who preferred not to participate in the activity were invited to participate in a research project to explore their perspectives and experiences. In total, five sessions of focus group discussions were conducted with participants (12 females and 2 males) in one set and non-participants (5 females and 4 males) in another to identify students' perspectives on themes such as their interest in science, reasons for their choices, and their expectations before the activity while post-experience focus group discussions were used to identify the perspectives of participant students on themes, encompassing contribution of the service-learning activity, acquisition of new skills, and the development of prosocial behaviors. Students' opinions on integrating social responsibility topics into the curriculum were also explored. The results extracted from these focus group discussions, analyzed through consensual coding, revealed factors promoting student participation, like interest in the subject, novelty of the activity, and grade improvement opportunities, as well as factors deterring participation, such as concerns about academic benefits, workload, and time constraints. Furthermore, the results demonstrated that Wikipedia editing serves as a novel teaching methodology, promoting student learning and development in digital literacy and information literacy, which are among the twenty-first-century skills. Interestingly, at the same time, not all students could address the value of contributing to open, crowdsourced knowledge for public service or interpret this activity as an academic service-learning. These suggest that Wikipedia editing is an innovative teaching approach, fostering students' learning and development while also indicating its potential to enhance students' understanding of responsible citizenship and public service in the digital age.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11031511/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138832201","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
Empowerment of genetic information by women at-risk of being carriers of Duchenne and Becker muscular dystrophies. 有可能成为杜兴氏和贝克氏肌肉萎缩症携带者的妇女掌握遗传信息的能力。
IF 1.9
Journal of Community Genetics Pub Date : 2024-04-01 Epub Date: 2024-01-02 DOI: 10.1007/s12687-023-00695-3
Alice Maria Luderitz Hoefel, Cesar Augusto Weschenfelder, Bruna Faria Rosa, Karina Carvalho Donis, Jonas Alex Morales Saute
{"title":"Empowerment of genetic information by women at-risk of being carriers of Duchenne and Becker muscular dystrophies.","authors":"Alice Maria Luderitz Hoefel, Cesar Augusto Weschenfelder, Bruna Faria Rosa, Karina Carvalho Donis, Jonas Alex Morales Saute","doi":"10.1007/s12687-023-00695-3","DOIUrl":"10.1007/s12687-023-00695-3","url":null,"abstract":"<p><p>The emergence of therapies acting on specific molecular targets for Duchenne and Becker muscular dystrophies (DBMD) led to expanded access of diagnostic DMD analysis. However, it is unclear how much of these advances have also improved healthcare and access to genetic testing for women at-risk of being carriers. This study evaluates the process of genetic counseling and empowerment of genetic information by women from DBMD families. We carried out a cross-sectional study between February and June 2022 in Brazil. The online survey with items regarding sociodemographic data; family history; access to health services; reproductive decisions; and the Genomic Outcome Scale was answered by 123 women recruited from a rare diseases reference service and a nationwide patient advocacy group. Genetic counseling was reported by 77/123 (62.6%) of women and 53.7% reported having performed genetic analysis of DMD. Although the majority knew about the risks for carriers of developing heart disease and muscle weakness, only 35% of potential carriers have had cardiac studies performed at least once in their lives. Country region, type of kinship, number of affected males in the family, age, notion of genetic risk, education level, and participation in advocacy groups were the main factors associated with adequate healthcare access to women and empowerment of genetic information. Education to health professionals and policies to expand access to carrier genetic testing, whether public policies or regulation of pharmaceutical companies' diagnostic programs, is paramount to improve the care of families with DBMD in Brazil.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11031514/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139080965","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
Attitudes of medical professionals toward fragile X carrier screening and genetic counseling in China. 中国医务人员对脆性 X 携带者筛查和遗传咨询的态度。
IF 1.9
Journal of Community Genetics Pub Date : 2024-04-01 Epub Date: 2024-01-26 DOI: 10.1007/s12687-024-00696-w
Yingbao Zhu, Jia Li, Yi Pan, Wen Huang, Hui Xi, Ranhui Duan
{"title":"Attitudes of medical professionals toward fragile X carrier screening and genetic counseling in China.","authors":"Yingbao Zhu, Jia Li, Yi Pan, Wen Huang, Hui Xi, Ranhui Duan","doi":"10.1007/s12687-024-00696-w","DOIUrl":"10.1007/s12687-024-00696-w","url":null,"abstract":"<p><p>Fragile X syndrome is the most common inherited cause of intellectual disability. Considering China's low prevalence, distinct healthcare system, middle-income economic status, and unique culture, China cannot simply replicate the screening systems in European and American countries. In this study, we investigated the attitudes of 450 Chinese medical professionals who received fragile X training on fragile X carrier screening and genetic counseling. Before the training, 57.6% of the respondents were unfamiliar with FXS. After the training, 7.3% of participants are unable to fully master the knowledge. Furthermore, 71.8% believe that the absence of phenotypes during the reproductive age and the availability of simple and feasible testing methods are prerequisites for screening. The presence of the phenotype would still require screening. Regarding the target population, over 90% of the participants support fragile X carrier screening in high-risk pregnant women. As for influencing factors, they consider cost as the most influential factor in pregnant women's decision to undergo screening. The acceptable price range for screening is determined to be ¥200-1000 ($30-150). In terms of the issues and challenges of screening, most medical professionals support the need for genetic counseling for intermediate alleles and 55-60 repeat premutation results. Additionally, some respondents believe that informing patients' family members of positive screening results is necessary. It is also recognized that positive results may lead to anxiety for patients. The findings of this study will provide valuable information for the establishment of fragile X carrier screening system, particularly for low-prevalence or middle-income countries.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11031535/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139564712","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
Short Communication: Lived experience perspectives on genetic testing for a rare eye disease. 简短交流:一种罕见眼病基因检测的生活经验视角。
IF 1.9
Journal of Community Genetics Pub Date : 2024-02-01 Epub Date: 2023-10-03 DOI: 10.1007/s12687-023-00677-5
Mallorie T Tam, Alonso Daboub, Hayami Lou, Julie M Robillard
{"title":"Short Communication: Lived experience perspectives on genetic testing for a rare eye disease.","authors":"Mallorie T Tam, Alonso Daboub, Hayami Lou, Julie M Robillard","doi":"10.1007/s12687-023-00677-5","DOIUrl":"10.1007/s12687-023-00677-5","url":null,"abstract":"<p><p>This qualitative study explored the motivators and barriers for genetic testing for individuals with aniridia. Semi-structured interviews were conducted with 8 participants. The main findings highlighted the complex and interrelated factors involved in the decision-making process, including family planning, learning about the specific pathogenic variant of the disease and having access to genetic testing. Benefits and potential risks of genetic testing for aniridia were also discussed. For participants, gaining knowledge about their condition was perceived as a benefit, while administrative issues and concerns around privacy were identified as risks. Increased access to quality information about genetic testing and to the service and associated resources are needed to better support people living with aniridia.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10857987/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41173367","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
Survey of attitude to human genome modification in Nigeria. 尼日利亚对人类基因组改造的态度调查。
IF 1.9
Journal of Community Genetics Pub Date : 2024-02-01 Epub Date: 2023-11-23 DOI: 10.1007/s12687-023-00689-1
Maryam Jibrilla, Hayatu Raji, Malachy Ifeanyi Okeke
{"title":"Survey of attitude to human genome modification in Nigeria.","authors":"Maryam Jibrilla, Hayatu Raji, Malachy Ifeanyi Okeke","doi":"10.1007/s12687-023-00689-1","DOIUrl":"10.1007/s12687-023-00689-1","url":null,"abstract":"<p><p>Gene editing and mitochondrial replacement therapy (MRT) are biotechnologies used to modify the host nuclear and mitochondrial DNA, respectively. Gene editing is the modification of a region of the host genome using site-specific nucleases, in particular the clustered regularly interspaced short palindromic repeats (CRISPR)-Cas system. Heritable and somatic genome editing (HGE and SGE) are used in gene therapy. MRT is a technique used to substitute the defective mitochondria in the recipient embryo with a female donor healthy mitochondrion in order to prevent the inheritance of mothers' defective mitochondria resulting in the change of mitochondria of the entire generation to come. To evaluate the perception of the Nigerian citizens on human genome modification, two survey forms were created and distributed in-person and majorly online. There was a total of 268 responses, 188 from the public and 80 from health workers and bio-scientists. The results showed poor knowledge about gene editing and MRT by the Nigerian public, but its use to prevent and cure inherited diseases was supported. Morality and religion have great influence on the attitude of Nigerians towards genome modification, but the influence of religion and morality is not unequivocal. Multiple regression analysis of Nigerian public responses shows that gender (females), age (19-30 years), monthly income (NGN 0 to 30,000), and level of education (tertiary) are significantly associated with approval of human genome editing, but the survey of health workers and bio-scientists shows no significant association except for females who approve and Muslims who disapprove of human genome editing.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10857991/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138296248","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 feasible molecular diagnostic strategy for rare genetic disorders within resource-constrained environments. 一种在资源有限的环境中用于罕见遗传疾病的可行分子诊断策略。
IF 1.9
Journal of Community Genetics Pub Date : 2024-02-01 Epub Date: 2023-10-10 DOI: 10.1007/s12687-023-00674-8
Maria Mabyalwa Mudau, Heather Seymour, Patracia Nevondwe, Robyn Kerr, Careni Spencer, Candice Feben, Zané Lombard, Engela Honey, Amanda Krause, Nadia Carstens
{"title":"A feasible molecular diagnostic strategy for rare genetic disorders within resource-constrained environments.","authors":"Maria Mabyalwa Mudau, Heather Seymour, Patracia Nevondwe, Robyn Kerr, Careni Spencer, Candice Feben, Zané Lombard, Engela Honey, Amanda Krause, Nadia Carstens","doi":"10.1007/s12687-023-00674-8","DOIUrl":"10.1007/s12687-023-00674-8","url":null,"abstract":"<p><p>Timely and accurate diagnosis of rare genetic disorders is critical, as it enables improved patient management and prognosis. In a resource-constrained environment such as the South African State healthcare system, the challenge is to design appropriate and cost-effective assays that will enable accurate genetic diagnostic services in patients of African ancestry across a broad disease spectrum. Next-generation sequencing (NGS) has transformed testing approaches for many Mendelian disorders, but this technology is still relatively new in our setting and requires cost-effective ways to implement. As a proof of concept, we describe a feasible diagnostic strategy for genetic disorders frequently seen in our genetics clinics (RASopathies, Cornelia de Lange syndrome, Treacher Collins syndrome, and CHARGE syndrome). The custom-designed targeted NGS gene panel enabled concurrent variant screening for these disorders. Samples were batched during sequencing and analyzed selectively based on the clinical phenotype. The strategy employed in the current study was cost-effective, with sequencing and analysis done at USD849.68 per sample and achieving an overall detection rate of 54.5%. The strategy employed is cost-effective as it allows batching of samples from patients with different diseases in a single run, an approach that can be utilized with rare and less frequently ordered molecular diagnostic tests. The subsequent selective analysis pipeline allowed for timeous reporting back of patients results. This is feasible with a reasonable yield and can be employed for the molecular diagnosis of a wide range of rare monogenic disorders in a resource-constrained environment.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10858011/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41183856","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
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":null,"pages":null},"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
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