Journal of Community Genetics最新文献

{"title":"Adolescents' experiences and views of the national school-based thalassaemia screening programme in Malaysia: a qualitative study.","authors":"Huey Yee Tan,&nbsp;Norita Hussein,&nbsp;Yew Kong Lee,&nbsp;Tun Firzara Abdul Malik","doi":"10.1007/s12687-023-00656-w","DOIUrl":"https://doi.org/10.1007/s12687-023-00656-w","url":null,"abstract":"<p><p>In 2016, a national school-based thalassemia screening programme was implemented in Malaysia. This study aimed to explore the experiences and views of adolescents from an urban school who had undergone the screening programme. We carried out in-depth interviews with 18 participants aged between 18 and 19 years old, with 12 of them identified as carriers during the school screening. Interviews were transcribed verbatim and analysed using thematic analysis. Three main themes emerged from this study: (1) issues encountered at various levels of the school screening programme: appropriate age for screening, thalassaemia education in school, parental consent and follow-up visit and post-test counselling; (2) experiencing emotional rollercoaster: worry, anxiety, shame, stigma; (3) choosing future partners after carrier status was known-prepared or unprepared? Various issues and screening-related challenges were encountered before, during and after the screening test. Recommendations include improving thalassaemia screening education for both school-going adolescents and parents, and better follow-up care and support for those identified as carriers. These will help stakeholders to be well informed and supportive of thalassaemia screening in schools.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10444732/pdf/12687_2023_Article_656.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10061368","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}

{"title":"\"What if\" should precede \"whether\" and \"how\" in the social conversation around human germline gene editing.","authors":"Diewertje Houtman,&nbsp;Wendy Geuverink,&nbsp;Isabel Rosalie Arianne Retel Helmrich,&nbsp;Boy Vijlbrief,&nbsp;Martina Cornel,&nbsp;Sam Riedijk","doi":"10.1007/s12687-023-00652-0","DOIUrl":"https://doi.org/10.1007/s12687-023-00652-0","url":null,"abstract":"<p><p>Given the potential large ethical and societal implications of human germline gene editing (HGGE) the urgent need for public and stakeholder engagement (PSE) has been repeatedly expressed. In this short communication, we aim to provide directions for broad and inclusive PSE by emphasizing the importance of futures literacy, which is a skill to imagine diverse and multiple futures and to use these as lenses to look at the present anew. By first addressing \"what if\" questions in PSE, different futures come into focus and limitations that arise when starting with the \"whether\" or \"how\" questions about HGGE can be avoided. Futures literacy can also aid in the goal of societal alignment, as \"what if\" questions can be answered in many different ways, thereby opening up the conversation to explore a multitude of values and needs of various publics. Broad and inclusive PSE on HGGE starts with asking the right questions.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10444910/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10063453","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}

{"title":"A pilot evaluation of an 8-week mindfulness-based stress reduction program for people with pre-symptomatic Huntington's disease.","authors":"Sarah Velissaris,&nbsp;Marie-Claire Davis,&nbsp;Fiona Fisher,&nbsp;Cathy Gluyas,&nbsp;Julie C Stout","doi":"10.1007/s12687-023-00651-1","DOIUrl":"https://doi.org/10.1007/s12687-023-00651-1","url":null,"abstract":"<p><p>People with Huntington's disease (HD) face difficult emotional and practical challenges throughout their illness, including in the pre-symptomatic stage. There are, however, extremely limited psychosocial interventions adapted to or researched for HD. We adapted and piloted an 8-week mindfulness-based stress reduction (MBSR) program in people with pre-symptomatic HD to determine if the program (i) was feasible and acceptable to participants, (ii) resulted in increased mindfulness understanding and skills, and (iii) led to improved psychological adjustment. Quantitative measures of mindfulness, emotion regulation, mood, and quality of life were administered pre and post the MBSR program and at 3-month follow-up. Measures of mindfulness practice and session clarity were administered weekly. Qualitative participant feedback was collected with a post-program interview conducted by independent clinicians. Seven participants completed the 8-week course. The program's feasibility and acceptability was supported by excellent retention and participation rates and acceptable rates of home practice completion. In addition, qualitative feedback indicated participant satisfaction with the program structure and content. Two core mindfulness skills (observing and non-judgment) showed significant improvement from pre- to post-assessment. Participant qualitative feedback indicated increased confidence and capacity to use mindfulness techniques, particularly in emotionally challenging situations. Participant questionnaire data showed good psychological adjustment at baseline, which did not change after treatment. Psychological benefits of the program identified in qualitative data included fewer ruminations about HD, reduced isolation and stigma, and being seen by others as calmer. These findings justify expansion of the program to determine its efficacy in a larger, controlled study.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10444936/pdf/12687_2023_Article_651.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10061415","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}

{"title":"Public's awareness of biobanks and willingness to participate in biobanking: the moderating role of social value orientation.","authors":"Matúš Grežo,&nbsp;Martin Sedlár","doi":"10.1007/s12687-023-00634-2","DOIUrl":"https://doi.org/10.1007/s12687-023-00634-2","url":null,"abstract":"<p><p>Although the awareness of biobanks is considered to be a key factor in the willingness to participate in biobanking, the empirical evidence on their relationship is inconsistent. The present study investigated social value orientation as an explanatory factor in this relationship. A representative sample of 600 Slovaks completed Slider Measure to assess their social value orientation. Thereafter, they reported their level of awareness of biobanks and their willingness to provide biospecimens and personal information to biobanks. The results showed a positive relationship between awareness and willingness. Although social value orientation was not the moderator, we found that this relationship was significant only in the groups of altruists and individualists. The results remained robust after taking sociodemographic and institutional trust factors into account. Our findings imply that biobank awareness programmes should highlight both prosocial and proself motives to attract people with various social value orientations to participate in biobanking.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10272000/pdf/12687_2023_Article_634.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9696754","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}

{"title":"Knowledge, attitude, and perceptions about cancer genetic testing in clinical practice in Karachi, Pakistan.","authors":"Shameel Shafqat,&nbsp;Masooma Naseem,&nbsp;Masooma Rana,&nbsp;Zehra Naseem,&nbsp;Warda Ahmed,&nbsp;Muhammad Daniyal Musharraf,&nbsp;Arisha Zaheer,&nbsp;Ahmed Safiullah Shaikh,&nbsp;Muhammad Bazil Musharraf,&nbsp;Mahnoor Niaz,&nbsp;Saifullah Khan,&nbsp;Rabiya Irfan,&nbsp;Areeba Imran,&nbsp;Zahid Mehmood","doi":"10.1007/s12687-023-00650-2","DOIUrl":"https://doi.org/10.1007/s12687-023-00650-2","url":null,"abstract":"<p><p>Healthcare professionals (HCP) play an important role in the practical application of genetic screening tests but often feel inadequately prepared for cancer genetic testing (CGT) in clinical care. As the complexity of gene-related malignancies increases, it demands HCPs' preparedness to cater to patients' needs. Therefore, the aim of our study is to assess the knowledge, attitude, and practices of HCPs in Pakistan regarding the application of cancer genetics. Our cross-sectional survey was conducted from April 2022 to June 2022 amongst HCPs at a private and a governmental institution in Karachi, Pakistan. Non-probability random convenience sampling was used to select the population; however. non-clinical HCPs, as well as Interns, were excluded from our study. A total of 210 HCPs, 56.7% (119) bearing an experience of over 5 years of clinical experience, were included in this study. Most respondents from both hospitals deemed their knowledge inadequate, with only 2% (2) and 1.8% (2) being extremely knowledgeable, respectively. 68.6% (144) HCPs displayed a positive attitude towards CGT, with 55.2% (116) participants perceiving CGT in a positive light. As compared to the private sector, significantly more HCPs in the public sector dedicated ≥ 5 h/week for CME (P = 0.006), and were better prepared to counsel patients (P = 0.021) and interpret results concerning CGT (P = 0.020). Additionally, screening tests for specific cancer types were popularly considered a worthwhile avenue of investment to improve the current state of CGT in our healthcare system [47.6% (N = 100)]. Demonstrating a lack of knowledge among Pakistani doctors, our results call upon the need for additional training concerning CGT in both the public and private sectors alike. Understanding specific gaps in knowledge may further help enhance post-graduate training programs and eventually lead to effective incorporation of CGT into our healthcare setting.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10271944/pdf/12687_2023_Article_650.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9698061","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}

{"title":"Never \"totally prepared\": Support groups on helping families prepare for a child with a genetic condition.","authors":"Kaitlynn P Craig,&nbsp;Kirsten A Riggan,&nbsp;Sabina Rubeck,&nbsp;Stephanie H Meredith,&nbsp;Megan A Allyse,&nbsp;Marsha Michie","doi":"10.1007/s12687-023-00646-y","DOIUrl":"https://doi.org/10.1007/s12687-023-00646-y","url":null,"abstract":"<p><p>A rapid increase in the reach and breadth of prenatal genetic screening and testing has led to an expanding need for prenatal support of families receiving this genetic information. As part of a larger study investigating prenatal preparation for a child with a genetic condition, we interviewed representatives of patient advocacy groups (PAGs) who support parents post-diagnosis. Groups supporting families with Down syndrome were often local or regional, while other groups were often national or international in scope. Groups varied in their willingness or ability to support families prior to making a pregnancy continuation decision, and participants reflected on ways they addressed these needs with individual counseling and referrals, if needed. Participants described supporting parents with information about conditions and a range of lived experiences for families, while referring families to healthcare professionals for technical questions and additional medical needs. PAGs also prioritized connecting parents experiencing a new diagnosis with other families for peer support and community-building, both in person and on social media. Participants discussed limitations, such as a lack of racially-concordant support, ability to offer resources in languages other than English, and a lack of funding to meet the expressed needs of families post-diagnosis. Overall, participants emphasized that the parenting experience of each child is unique, irrespective of a genetic diagnosis, an experience for which parents can never be \"totally prepared.\"</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10092915/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9700627","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}

{"title":"Pakistani healthcare professionals' perceptions of communication with patients and their relatives about hereditary breast cancer: a qualitative study in a LMIC.","authors":"Shenaz Ahmed,&nbsp;Hussain Jafri,&nbsp;Wajeeha Naseer Ahmed,&nbsp;Andleeb Khanam,&nbsp;Yasmin Rashid,&nbsp;Mushtaq Ahmed","doi":"10.1007/s12687-023-00639-x","DOIUrl":"https://doi.org/10.1007/s12687-023-00639-x","url":null,"abstract":"<p><p>Pakistan has the highest incidence and mortality rates of breast cancer in Asia, with high numbers of patients diagnosed at a young age suggesting the possibility of an inherited cancer syndrome. Communication of hereditary breast cancer (HBC) risk information with patients could enable earlier detection of the condition in relatives and reduce mortality rates. This study aimed to explore perceptions of healthcare professionals (HCPs) in Pakistan about communication with patients and their relatives about HBC. Semi-structured qualitative interviews were conducted with eighteen HCPs during March to May 2020 in Lahore. Thematic analysis shows the HCPs were generally supportive of informing patients themselves about HBC, but believed it was the patients' role to inform their relatives. HCPs also highlighted important barriers to communication with patients about HBC, including (i) patients' low socioeconomic status and educational attainment; (ii) high prevalence of the social stigma of breast cancer; and (iii) lack of health resources and facilities to provide genetic testing for HBC. In conclusion, HCPs would value the development of interventions to support communication between HCPs and patients. They also highlighted the need for interventions to support intrafamilial communication about HBC. Much research and political support are needed to address patient, social, and systemic-level barriers to facilitate communication about HBC.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10271977/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10053429","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}

{"title":"Fundamental knowledge taught in compulsory education for effective genetic counseling: a qualitative study of descriptions in textbooks.","authors":"Eri Sakai,&nbsp;Takahiro Yamada,&nbsp;Tomomi Funaki,&nbsp;Miho Iwakuma,&nbsp;Harumo Osawa,&nbsp;Kana Morimoto,&nbsp;Shinji Kosugi","doi":"10.1007/s12687-023-00641-3","DOIUrl":"https://doi.org/10.1007/s12687-023-00641-3","url":null,"abstract":"<p><p>In genetic counseling, information must be provided in ways that the client and general public can understand to ensure that decisions are made autonomously. To realize this, we must assess the extent of knowledge held by the general public regarding genetics. To identify the client's original knowledge before genetic counseling, we explored the fundamental knowledge related to genetic counseling that is taught in Japanese compulsory education. A qualitative study was conducted. We selected 50 textbooks for compulsory education (Japanese, social studies, science, health and physical education, technology and home economics, morality, and life) that had been used in more than half of the districts in Japan. The text data were analyzed using qualitative content analysis, and quantitative data were analyzed for methodological triangulation. Codes, subcategories, and categories were generated from the contexts that met the following criteria: the contents included in the official textbook for clinical geneticists, contents derived from such descriptions that were related to genetic counseling, and contents clearly related to genetics. Among the 50 textbooks, 33 textbooks contained fundamental knowledge regarding genetic counseling. A qualitative content analysis identified four major categories: (1) basics of genetics, (2) understanding and control of diseases, (3) efforts and barriers to the realization of a harmonious society, and (4) technology and humans. We found that fundamental knowledge related to genetic counseling is directly or indirectly taught in compulsory education. Our results are an important resource for understanding the client's knowledge baseline and will be helpful for effective genetic counseling.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10272030/pdf/12687_2023_Article_641.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9697584","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}

{"title":"A review of key terminology and definitions used for birth defects globally.","authors":"H L Malherbe,&nbsp;B Modell,&nbsp;H Blencowe,&nbsp;K L Strong,&nbsp;C Aldous","doi":"10.1007/s12687-023-00642-2","DOIUrl":"https://doi.org/10.1007/s12687-023-00642-2","url":null,"abstract":"<p><p>Birth defects, also known as congenital disorders, are a significant health issue impacting at least five million births annually worldwide. For policymakers to mount a relevant healthcare response to care for those affected, the burden of disease of these conditions must be quantified. Estimates of the contribution of birth defects to under-5 child mortality and morbidity are generated by several groups globally. These estimates often differ, causing confusion for policymakers. While some differences may be attributed to the data sources and methods used, much is due to a lack of clarity in the terminology used for the group of disorders classed as \"congenital\". This study aimed to gain insight into the diversity of terms and definitions for birth defects, including those used routinely by relevant international/national organisations and in the peer-reviewed literature. This two-part study included (1) scoping review of peer-reviewed literature to identify terms and definitions in use for birth defects and (2) review of key websites and grey literature to identify terms and definitions used. The results of this study indicate a wide variety of terms being used, often interchangeably and undefined, in peer-reviewed publications, on institutional websites and related literature. This suggests a lack of clarity related to terminology and sets the scene for further discussion, recommending that the community of practice working on birth defects comes to a consensus on standard terminology and definitions for global uptake and implementation. Such standardisation will facilitate a common understanding of the burden of these disorders globally, regionally and within countries so that action can be taken to support affected children and their families.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10272040/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10195215","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}

{"title":"Exploring the impact of the reclassification of a hereditary cancer syndrome gene variant: emerging themes from a qualitative study.","authors":"Laura Wedd,&nbsp;Margaret Gleeson,&nbsp;Bettina Meiser,&nbsp;Rosie O'Shea,&nbsp;Kristine Barlow-Stewart,&nbsp;Amanda B Spurdle,&nbsp;Paul James,&nbsp;Jane Fleming,&nbsp;Cassandra Nichols,&nbsp;Rachel Austin,&nbsp;Elisa Cops,&nbsp;Melissa Monnik,&nbsp;Judy Do,&nbsp;Rajneesh Kaur","doi":"10.1007/s12687-023-00644-0","DOIUrl":"https://doi.org/10.1007/s12687-023-00644-0","url":null,"abstract":"<p><p>The complexity of genetic variant interpretation means that a proportion of individuals who undergo genetic testing for a hereditary cancer syndrome will have their test result reclassified over time. Such a reclassification may involve a clinically significant upgrade or downgrade in pathogenicity, which may have significant implications for medical management. To date, few studies have examined the psychosocial impact of a reclassification in a hereditary cancer syndrome context. To address this gap, semi-structured telephone interviews were performed with eighteen individuals who had a BRCA1, BRCA2 or Lynch syndrome-related (MLH1, MSH2, MSH6 or PMS2) gene variant reclassified. The interviews were analysed utilising an inductive, qualitative approach and emergent themes were identified by thematic analysis. Variable levels of recall amongst participants were found. Common motivations for initial testing included a significant personal and/or family history of cancer and a desire to \"find an answer\". No individual whose uncertain result was upgraded reported negative psychosocial outcomes; most reported adapting to their reclassified result and appraised their genetic testing experience positively. However, individuals whose likely pathogenic/pathogenic results were downgraded reported feelings of anger, shock and sadness post reclassification, highlighting that additional psychosocial support may be required for some. Genetic counselling issues and recommendations for clinical practice are outlined.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10272031/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9688671","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}