Journal of Community Genetics最新文献_第5页

Negative results from DNA-based population screening for adult-onset diseases: the recipients' experience. 基于 DNA 的成人发病人群筛查的阴性结果：受试者的经验。

IF 1.5

Journal of Community Genetics Pub Date : 2024-12-01 Epub Date: 2024-10-07 DOI: 10.1007/s12687-024-00736-5

Felicia Russo, Debanjana Chatterjee, Natalia DeMaria, Michelle E Florido, Maddalena Marasa, Maya Sabatello, Julia Wynn, Hila Milo Rasouly

{"title":"Negative results from DNA-based population screening for adult-onset diseases: the recipients' experience.","authors":"Felicia Russo, Debanjana Chatterjee, Natalia DeMaria, Michelle E Florido, Maddalena Marasa, Maya Sabatello, Julia Wynn, Hila Milo Rasouly","doi":"10.1007/s12687-024-00736-5","DOIUrl":"10.1007/s12687-024-00736-5","url":null,"abstract":"DNA-based population screening for adult-onset diseases holds promise for advancing personalized medicine and improving public health. Yet as most individuals pursuing such screening receive negative results, the return of results process must ensure that negative results and their implications are clearly understood. We explored the experiences of adults who received negative results from such screening as part of the Electronic Medical Records and Genomics consortium Phase 3 project (eMERGE-3) at Columbia University. In addition to a laboratory report and a standard counseling letter explaining the negative results, participants were randomized to receive (or not) a vignette explaining the results. A diverse cohort of 437 adult participants completed both baseline and post-result surveys. Many participants reported motivations that did not match the screening goals and included hope for diagnosis and family disease risk. A quarter of participants reported not feeling confident explaining their results to others (n = 105, 24%), and those who did not receive the vignette were less confident than those who did (29% versus 19% respectively; p-value = 0.02). Open-text responses about personal and family members' reactions to the results suggested that some perceived an exaggerated benefit from the negative result and might forgo more appropriate genetic testing. Our findings highlight the complexity of returning negative results and raise concerns that participants might forgo more suitable genetic testing. Future research is needed to compare the efficacy of different forms of ancillary materials on individuals' comprehension of negative results.","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"653-664"},"PeriodicalIF":1.5,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11645380/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142381983","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

Acceptability of dried blood spot collection by primary caregivers of Filipino patients with maple syrup urine disease (MSUD) and phenylketonuria (PKU). 菲律宾枫糖尿症（MSUD）和苯丙酮尿症（PKU）患者的主要护理人员对干血斑采集的接受程度。

IF 1.5

Journal of Community Genetics Pub Date : 2024-12-01 Epub Date: 2024-10-16 DOI: 10.1007/s12687-024-00743-6

Roxanne Janica E Merencilla, Ebner Bon G Maceda, Jeanne Ruth U Basas, Rufus Thomas Y Adducul, Ma Lourdes Francisco, Justin Von Licudo, Leniza G de Castro-Hamoy

{"title":"Acceptability of dried blood spot collection by primary caregivers of Filipino patients with maple syrup urine disease (MSUD) and phenylketonuria (PKU).","authors":"Roxanne Janica E Merencilla, Ebner Bon G Maceda, Jeanne Ruth U Basas, Rufus Thomas Y Adducul, Ma Lourdes Francisco, Justin Von Licudo, Leniza G de Castro-Hamoy","doi":"10.1007/s12687-024-00743-6","DOIUrl":"10.1007/s12687-024-00743-6","url":null,"abstract":"MSUD and PKU require lifetime management hence, regular monitoring of amino acid levels is needed to achieve good metabolic control. Ideally, plasma amino acid analysis (PLAA) is used to monitor concentrations but is expensive and not widely available in local laboratories. The newborn screening program in the Philippines uses dried blood spot (DBS) analysis as an alternative where only trained healthcare providers are allowed to perform the collection at selected facilities. With the increasing number of patients, DBS monitoring has been noted to be delayed due to multiple factors. This issue became even more evident during the COVID-19 pandemic where high-risk patients need to travel outside for blood collection. The study used a cross-sectional study design to determine the primary caregivers' perspective on DBS self-sampling for patients with MSUD and PKU and the acceptability of the samples collected. This was done through a series of collection training, pre-/post- surveys, and 10-item questionnaire, and an in-depth 1-on-1 interview for thematic analysis. The acceptability of samples was processed and evaluated by the newborn screening laboratory. At-home DBS collection by primary caregivers was found to be acceptable. The provision of knowledge and routine collection training by the medical team aids in the increase of sample acceptability as well as a source of empowerment in being equipped to take care of their child. It is highly recommended that DBS samples collected by caregivers be considered acceptable for more time and cost-saving monitoring of the patients' metabolites. This practice also promotes timely and appropriate management which can lead to better patient health outcomes.","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"699-710"},"PeriodicalIF":1.5,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11645370/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142477467","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

Key contextual factors involved with participation in medical and genomic screening and research for African American and White Americans: a qualitative inquiry. 非裔美国人和美国白人参与医疗和基因组筛查与研究的关键背景因素：定性调查。

IF 1.5

Journal of Community Genetics Pub Date : 2024-12-01 Epub Date: 2024-11-04 DOI: 10.1007/s12687-024-00747-2

Crystal Lederhos Smith, B Connor Stark, McKenna Kobalter, Mary Carol Barks, Mariko Nakano-Okuno, Ellen Wager Romesburg, Nita Limdi, Thomas May

{"title":"Key contextual factors involved with participation in medical and genomic screening and research for African American and White Americans: a qualitative inquiry.","authors":"Crystal Lederhos Smith, B Connor Stark, McKenna Kobalter, Mary Carol Barks, Mariko Nakano-Okuno, Ellen Wager Romesburg, Nita Limdi, Thomas May","doi":"10.1007/s12687-024-00747-2","DOIUrl":"10.1007/s12687-024-00747-2","url":null,"abstract":"Tremendous progress has been made promoting diversity in recruitment for genomic research, yet challenges remain for several racial demographics. Research has cited intertwined fears of racial discrimination and medical mistrust as contributing factors. This study aimed to identify key factors to establishing trust in medical and genomic screening and research among African Americans and White Americans. Participants completed online focus groups and resulting transcripts were analyzed using a qualitative descriptive approach, with content analysis methods based on recommendations by Schreier. Fifteen African Americans and twenty-three White Americans participated in the study, 63% of which were female. The mean age of participants was 38.5 (SD = 16.6). The Overarching Theme of Trust is Context Dependent was identified, along with the following five themes describing elements influencing trustworthiness for our participants: (1) Professional Experience, Education, and Training Bolster Trust; (2) Trust Depends on Relationships; (3) Cross-checking Provided Information is Influential in Establishing Trust; (4) Trust is Undermined by Lack of Objectivity and Bias; and (5) Racism is an Embedded Concern and a Medical Trust Limiting Component for African Americans. To effectively address mistrust and promote recruitment of diverse participants, genomic research initiatives must be communicated in a manner that resonates with the specific diverse communities targeted. Our results suggest key factors influencing trust that should be attended to if we are to promote equity appropriately and respectfully by engaging diverse populations in genomic research.","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"723-733"},"PeriodicalIF":1.5,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11645391/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142569899","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

Opportunities and challenges for identifying undiagnosed Rare Disease patients through analysis of primary care records: long QT syndrome as a test case. 通过分析初级保健记录识别未确诊罕见病患者的机遇与挑战：以长 QT 综合征为例。

IF 1.5

Journal of Community Genetics Pub Date : 2024-12-01 Epub Date: 2024-10-15 DOI: 10.1007/s12687-024-00742-7

William Evans, Ralph K Akyea, Alex Simms, Joe Kai, Nadeem Qureshi

{"title":"Opportunities and challenges for identifying undiagnosed Rare Disease patients through analysis of primary care records: long QT syndrome as a test case.","authors":"William Evans, Ralph K Akyea, Alex Simms, Joe Kai, Nadeem Qureshi","doi":"10.1007/s12687-024-00742-7","DOIUrl":"10.1007/s12687-024-00742-7","url":null,"abstract":"Background: Patients with rare genetic diseases frequently experience significant diagnostic delays. Routinely collected data in the electronic health record (EHR) may be used to help identify patients at risk of undiagnosed conditions. Long QT syndrome (LQTS) is a rare inherited cardiac condition associated with significant morbidity and premature mortality. In this study, we examine LQTS as an exemplar disease to assess if clinical features recorded in the primary care EHR can be used to develop and validate a predictive model to aid earlier detection.Methods: 1495 patients with an LQTS diagnostic code and 7475 propensity-score matched controls were identified from 10.5 million patients' electronic primary care records in the UK's Clinical Practice Research Datalink (CPRD). Associated clinical features recorded before diagnosis (with p < 0.05) were incorporated into a multivariable logistic regression model, the final model was determined by backwards regression and validated by bootstrapping to determine model optimism.Results: The mean age at LQTS diagnosis was 58.4 (SD 19.41). 18 features were included in the final model. Discriminative accuracy, assessed by area under the curve (AUC), was 0.74, (95% CI 0.73, 0.75) (optimism 6%). Features occurring at significantly greater frequency before diagnosis included: epilepsy, palpitations, syncope, collapse, mitral valve disease and irritable bowel syndrome.Conclusion: This study demonstrates the potential to develop primary care prediction models for rare conditions, like LQTS, in routine primary care records and highlights key considerations including disease suitability, finding an appropriate linked dataset, the need for accurate case ascertainment and utilising an approach to modelling suitable for rare events.","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"687-698"},"PeriodicalIF":1.5,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11645366/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142477469","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

Factors influencing pregnant women's decision to accept or decline prenatal screening and diagnosis - a qualitative study. 影响孕妇决定接受或拒绝产前筛查和诊断的因素 - 一项定性研究。

IF 1.5

Journal of Community Genetics Pub Date : 2024-12-01 Epub Date: 2024-11-01 DOI: 10.1007/s12687-024-00746-3

Ellen Ternby, Ove Axelsson, Charlotta Ingvoldstad Malmgren, Susanne Georgsson

{"title":"Factors influencing pregnant women's decision to accept or decline prenatal screening and diagnosis - a qualitative study.","authors":"Ellen Ternby, Ove Axelsson, Charlotta Ingvoldstad Malmgren, Susanne Georgsson","doi":"10.1007/s12687-024-00746-3","DOIUrl":"10.1007/s12687-024-00746-3","url":null,"abstract":"Background and objective: Prenatal diagnosis for chromosomal anomalies is frequently used worldwide. It is important that pregnant women receive adequate counselling to make informed decisions regarding prenatal diagnosis. The aim of this study was to explore what factors influence pregnant women's decision-making process when accepting or declining prenatal screening and diagnosis. Methods: A qualitative study using inductive qualitative content analysis. Individual, semi-structured phone interviews were carried out during a five-month period in 2016-2017 with 24 pregnant women in the first trimester, living in a medium-sized Swedish city.Findings: Two main themes emerged: (1)\"Individual factors - The women's experiences, perceptions and values\" with three categories \"Attitude towards anomalies\", \"Worry and need for reassurance\", \"Self-perceived risk\" and (2)\"External factors - The women's perception of the test and others' views\" with two categories \"Test characteristics\" and \"Influence from others\". Conclusions: Pregnant women's decision-making process regarding prenatal tests is multidimensional, affected by both individual factors such as experiences, perceptions and values, and external factors such as test characteristics and influence from others. Information about both test characteristics and the conditions tested is of help pregnant women in the decision-making process since it provides a better understanding of how having a child with the condition in question can affect them and their family. It is important that healthcare professionals giving information about and offering prenatal tests for chromosomal anomalies are aware of how their attitudes can influence women's decisions.","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"711-721"},"PeriodicalIF":1.5,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11645329/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142562898","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

Key challenges in developing a gene therapy for Usher syndrome: machine-assisted scoping review. 开发乌谢尔综合征基因疗法的关键挑战：机器辅助范围界定综述。

IF 1.5

Journal of Community Genetics Pub Date : 2024-12-01 Epub Date: 2024-11-16 DOI: 10.1007/s12687-024-00749-0

Rajeshwari Bhat, Bhargavi Nallamothu, Foram Shethia, Vatsal Chhaya, Kapil Khambholja

{"title":"Key challenges in developing a gene therapy for Usher syndrome: machine-assisted scoping review.","authors":"Rajeshwari Bhat, Bhargavi Nallamothu, Foram Shethia, Vatsal Chhaya, Kapil Khambholja","doi":"10.1007/s12687-024-00749-0","DOIUrl":"10.1007/s12687-024-00749-0","url":null,"abstract":"Despite compelling empirical evidence demonstrating its efficacy, gene therapies for usher syndrome (USH) are not yet available for the patient's usage. This scoping review assessed the current scenario and analysed the challenges in implementing gene therapies for USH. A literature search was conducted using PubMed and Google Scholar through an artificial intelligence (AI) tool, MaiA, focusing on relevant publications from the last 10 years. We followed the methodological guidance of the Joanna Briggs Institute (JBI) and adhered to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses for Scoping Reviews (PRISMA-ScR) checklist. Of 517 records, 51 reports were considered for final analysis. It identified and categorized challenges across four key areas: preclinical, clinical, economic, and regulatory. Of all, many reports (30) highlighted the preclinical challenges where the USH gene development process encountered roadblocks. Specifically, preclinical challenges included the lack of suitable in-vivo models and effective delivery methods. Clinical challenges focused on establishing clear endpoints and long-term safety and efficacy. Economic challenges addressed diagnostic issues and manufacturing hurdles, while regulatory challenges focused on expedited evaluation processes and guidance for clinical development. Our analysis uncovered key barriers to clinical translation of USH gene therapy and strategies to address them. Researchers are employing innovative approaches, including novel delivery methods such as minigenes and nanoparticles, inventive clinical trial designs, cohesive regulatory frameworks, strategic market assessments, and collaborative research initiatives. These efforts hold promise for impactful disease-cure and modifying interventions ultimately enhancing the quality of life for USH patients.","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"735-747"},"PeriodicalIF":1.5,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11645336/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142644760","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

Spinal muscular atrophy carrier screening program: awareness and attitude of healthcare professionals in Turkey. 脊髓性肌肉萎缩症带菌者筛查计划：土耳其医护人员的认识和态度。

IF 1.5

Journal of Community Genetics Pub Date : 2024-12-01 Epub Date: 2024-10-11 DOI: 10.1007/s12687-024-00737-4

Kubra Muge Celik, Canan Ceylan Kose, Derya Kaya, Koray Tekin, Fatma Silan

{"title":"Spinal muscular atrophy carrier screening program: awareness and attitude of healthcare professionals in Turkey.","authors":"Kubra Muge Celik, Canan Ceylan Kose, Derya Kaya, Koray Tekin, Fatma Silan","doi":"10.1007/s12687-024-00737-4","DOIUrl":"10.1007/s12687-024-00737-4","url":null,"abstract":"Spinal Muscular Atrophy (SMA) is an autosomal recessive disease caused by variants in the SMN1 gene, leading to progressive muscle weakness. The carrier frequency of SMN1 gene variants, including variant and copy number variations, is estimated to be around 1 in 50 people, while the global prevalence of SMA is 1-3 per 10,000 live births. In response to the increasing carrier proportion, especially due to consanguineous marriages, Turkey launched the SMA Carrier Screening Program in 2021. Notably, recent SMA cases have been observed in the children of healthcare workers who did not undergo carrier screening, prompting us to evaluate their awareness of this program. After receiving ethics approval, 1,322 healthcare professionals completed a 15-item survey based on the SMA Carrier Screening Guidelines. Of these, 5.8% were unaware of SMA, and 26% lacked information about the national screening program. Awareness of the screening program was significantly lower among secondary and tertiary healthcare professionals compared to primary healthcare professionals (p < 0.0001) and among non-physician healthcare professionals compared to physicians (p < 0.0001). Additionally, a serious lack of knowledge was observed concerning the parts of the screening covering the pregnancy period. Although there is generally high awareness of the SMA Carrier Screening Program among healthcare professionals, significant knowledge gaps exist. These findings highlight the need for increased efforts to more effectively deliver screening programs and continue the education of healthcare professionals. Education and awareness campaigns can enhance program awareness and effectiveness, reach wider audiences, and contribute to preventive measures for the health of future generations.","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"665-672"},"PeriodicalIF":1.5,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11645347/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142401606","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

Engaging communities: A scoping literature review of community-based participatory research in genetics service delivery settings. 让社区参与进来：遗传学服务提供环境中基于社区的参与式研究范围文献综述。

IF 1.5

Journal of Community Genetics Pub Date : 2024-12-01 Epub Date: 2024-11-25 DOI: 10.1007/s12687-024-00740-9

Heather A Zierhut, Pranathi Kandikonda, Emily M Simon, Cameron Donarski, Megan Kocher, Mariana Ramírez, Crystal Y Lumpkins, Elena R Fisher

{"title":"Engaging communities: A scoping literature review of community-based participatory research in genetics service delivery settings.","authors":"Heather A Zierhut, Pranathi Kandikonda, Emily M Simon, Cameron Donarski, Megan Kocher, Mariana Ramírez, Crystal Y Lumpkins, Elena R Fisher","doi":"10.1007/s12687-024-00740-9","DOIUrl":"10.1007/s12687-024-00740-9","url":null,"abstract":"Genetic counseling (GC) services have the potential to improve health outcomes, yet there are documented disparities in the use of GC services among minoritized racial/ethnic populations. Community-based participatory research (CBPR) is an approach to integrate diverse patient perspectives to improve GC services. The objective of this review was to assess the current state of international CBPR within GC and genetics services from 2006 to 2023. Five databases were searched for inclusion criteria: 1) published in 2006 or later; 2) peer-reviewed publication; 3) primary research studies; 4) community-based AND participatory research; 5) focused on GC, clinical genetics, testing, and/or genetic service delivery. Criteria for evaluating CBPR involvement used a synthesis of best processes framework. Screening of 3,824 studies identified 16 papers (n = 12 qualitative; n = 1 quantitative; n = 3 mixed methods). The majority of studies were conducted within the U.S. (n = 12), focused on cancer (n = 5), involved the Asian/Pacific Islander community (n = 8), and centered around genetic education (n = 12). Community partners most frequently were involved in recruitment (n = 12) and results analysis (n = 12) and least involved in research question development (n = 7) and product creation (n = 6). Studies varied substantially in the integration of 9 CBPR gold standard principles with only three studies addressing all nine principles. Few CBPR projects in GC services exist and a lack of guidelines to assess the quality of CBPR methodologies hindered the appraisal of studies. CBPR represents a promising approach to improve GC services and should be explored by genetics service delivery researchers.","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"583-602"},"PeriodicalIF":1.5,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11645335/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142717620","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

Deciphering the needs of patients with hereditary breast and ovarian Cancer in the Process of Genetic Counseling to Inform the Development of a Mobile Support App: a qualitative study in Germany. 解读遗传性乳腺癌和卵巢癌患者在遗传咨询过程中的需求，为开发移动支持应用程序提供参考：德国的一项定性研究。

IF 1.5

Journal of Community Genetics Pub Date : 2024-12-01 Epub Date: 2024-08-19 DOI: 10.1007/s12687-024-00727-6

Nils Ammon, Chiara Reichert, Thomas Kupka, Steffen Oeltze-Jafra, Anke Katharina Bergmann, Brigitte Schlegelberger, Dominik Wolff, Beate Vajen

{"title":"Deciphering the needs of patients with hereditary breast and ovarian Cancer in the Process of Genetic Counseling to Inform the Development of a Mobile Support App: a qualitative study in Germany.","authors":"Nils Ammon, Chiara Reichert, Thomas Kupka, Steffen Oeltze-Jafra, Anke Katharina Bergmann, Brigitte Schlegelberger, Dominik Wolff, Beate Vajen","doi":"10.1007/s12687-024-00727-6","DOIUrl":"10.1007/s12687-024-00727-6","url":null,"abstract":"Patients with hereditary breast and ovarian cancer (HBOC) are not only concerned about their own health but also about that of their children, grandchildren, and other relatives. Therefore, they have specific needs for information and support. During genetic counseling guidance is provided to HBOC patients and other individuals who may be at risk for familial cancer. The purpose of the study was to identify the needs of HBOC patients during the genetic counseling process that could be addressed by digital solutions. Nine semi-structured qualitative interviews were conducted. Overall, the patients appreciated the personal contact with human geneticists as an especially positive factor in the genetic counseling process. However, patients noted the following needs (1) support in the time following genetic counseling, (2) support before genetic counseling by collecting own and familial medical information, (3) Need for contact options to support services, (4) Need for patient-friendly medical information, (5) Wish for administration-related components in a support app. The results will inform the development of a patient-centered mobile support app.","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"603-613"},"PeriodicalIF":1.5,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11645348/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142001012","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 testing perspectives in Pakistani population: a survey on knowledge, attitudes, awareness, and concerns. 巴基斯坦人对基因检测的看法：一项关于知识、态度、认识和担忧的调查。

IF 1.5

Journal of Community Genetics Pub Date : 2024-12-01 Epub Date: 2024-10-01 DOI: 10.1007/s12687-024-00719-6

Mohammad Uzair, Rida Fatima, Shafia Rafiq, Maimoona Jabeen, Hammad Qaiser, Muhammad Arshad, Shahid Bashir

{"title":"Genetic testing perspectives in Pakistani population: a survey on knowledge, attitudes, awareness, and concerns.","authors":"Mohammad Uzair, Rida Fatima, Shafia Rafiq, Maimoona Jabeen, Hammad Qaiser, Muhammad Arshad, Shahid Bashir","doi":"10.1007/s12687-024-00719-6","DOIUrl":"10.1007/s12687-024-00719-6","url":null,"abstract":"A higher rate of consanguineous marriages is associated with the increasing prevalence of genetic disorders, imposing a significant burden on families, public health, and healthcare systems. Genetic testing facilitates the earlier detection of disease and personalized treatment approaches. Therefore, this study aims to assess knowledge, awareness, attitudes, and concerns regarding genetic testing in the Pakistani population. Participants (n = 494) were asked about factors that influence attitudes toward undergoing genetic testing. Furthermore, the study also investigates the concerns and reservations held by the Pakistani population regarding genetic testing. Participants indicated that consanguineous marriages lead to an increased risk of hereditary disorders and agreed that knowledge of genetic diseases can improve the quality of life. Almost 80% of the respondents know the term, and the majority of them know about genetic testing. 87.7% of respondents agreed to genetic screening before marriage, and 39.9% were willing to undergo genetic testing. More knowledge was significantly associated with a higher likelihood of accepting genetic testing, indicating potential acceptance if integrated into standard procedures. Those with a family history of genetic disorders were more positive in accepting genetic testing. The level of understanding regarding genetic testing also influences the concerns. Cultural or religious beliefs may also affect the decision to accept genetic testing. The survey reveals diverse opinions and knowledge levels regarding genetic testing in Pakistan. While there was generally positive interest, concerns about privacy, accuracy, and cultural factors should be addressed. Education and awareness campaigns could help improve understanding and acceptance.","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"631-640"},"PeriodicalIF":1.5,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11645371/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142336836","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