Maria Vitoria Gomes da Silva, Kathleen da Silva Sousa, Catarina Costa, Carolina Lemos, Milena Paneque, Carla Maria Ramos Germano, Lucimar Retto da Silva de Avó, Débora Gusmão Melo
{"title":"Adaptation and validation of a tool for the quality assessment of genetic counseling in Brazil: perspectives from clinical geneticists.","authors":"Maria Vitoria Gomes da Silva, Kathleen da Silva Sousa, Catarina Costa, Carolina Lemos, Milena Paneque, Carla Maria Ramos Germano, Lucimar Retto da Silva de Avó, Débora Gusmão Melo","doi":"10.1007/s12687-025-00767-6","DOIUrl":"https://doi.org/10.1007/s12687-025-00767-6","url":null,"abstract":"<p><p>In 2018, Portuguese researchers proposed the \"Tool for Quality Assessment of Genetic Counseling,\" a 5-point Likert scale comprising 50 items across five dimensions, designed to assess genetic counseling from the professional's perspective. This descriptive, cross-sectional study aimed to adapt this tool to Brazilian Portuguese, validate it among Brazilian clinical geneticists, and conduct a preliminary assessment of the quality of genetic counseling in Brazil. The adaptation process involved expert-driven content validation and calculation of the Content Validity Index (CVI) to ensure equivalence between the original and adapted versions. The adapted tool was subsequently administered to 81 clinical geneticists, including physicians and nurses, and the data were analyzed using Principal Component Analysis. Items with factor loadings above 0.4 were retained for interpretive purposes. Results were normalized and categorized. The adapted items achieved acceptable CVIs, ranging from 0.831 to 1.0, demonstrating strong validity. Scale results revealed that the dimensions \"genetic counseling outcomes\" (100%), \"education\" (86.41%), and \"individual attributes\" (80%) were rated as very good, \"counselor-client relationship\" (76.33%) as good, and \"service functioning\" (59.95%) as sufficient. These findings indicated that although participants perceived the genetic counseling they provided as achieving desired outcomes, deficiencies in service functioning negatively impacted perceptions of overall quality, highlighting the need for systemic improvements to enhance service delivery. This cross-cultural adaptation validated a reliable new instrument for Brazilian professionals, providing a robust foundation for future research and applications in diverse clinical settings.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2025-01-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143013681","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Lea Godino, Enrico Ambrosini, Valeria Barili, Claudio Graziano, Livia Garavelli, Olga Calabrese, Marcella Neri, Luca Sangiorgi, Benedetta Bertonazzi, Giovanni Innella, Daniela Turchetti, Antonio Percesepe
{"title":"Clinical genetic services in the Emilia-Romagna region, Italy: current activity and open issues: a mixed-method study.","authors":"Lea Godino, Enrico Ambrosini, Valeria Barili, Claudio Graziano, Livia Garavelli, Olga Calabrese, Marcella Neri, Luca Sangiorgi, Benedetta Bertonazzi, Giovanni Innella, Daniela Turchetti, Antonio Percesepe","doi":"10.1007/s12687-024-00750-7","DOIUrl":"https://doi.org/10.1007/s12687-024-00750-7","url":null,"abstract":"<p><p>In 2002, in the Emilia-Romagna region of Italy, a comprehensive strategic plan was developed with the aim of improving the integration and efficiency of the genetic services. Two decades later, this report aims to explore the current functioning of the regional network, with special focus on clinical genetics in the evolving scenarios. To this aim, we analyzed the activity data of the medical genetics services in the region, to identify and possibly improve currently open issues. This is a mixed-method study, analyzing quantitatively and qualitatively the activities of seven medical genetics services in Emilia-Romagna region. Quantitative analysis considered the number of consultations and the composition of the staff in the year 2021. Qualitative analysis examined a focus group of directors of the services through reflexive thematic analysis. A total of 14,925 counseling sessions have been delivered by the medical genetics services, staffed with 22.4 full-time equivalent clinical geneticists. A physician performed an average of 14.5 consultations per week and approximately 1166 h of patient care per year. The clinical geneticists/inhabitants ratio was 0.54 per 100,000 inhabitants, and it is estimated that one every 278 inhabitants, on average, underwent a genetic counseling session in 2021. Qualitative analysis highlighted issues concerning patients' access to service, general organization and staff composition. In order to meet the growing demand for genetic counseling services, expansion of the workforce and adjustment of current practice models are required to increase the access to genetic services and the application of test results to clinical management.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2025-01-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142967207","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Carolina Fischinger Moura de Souza, Tássia Tonon, Thiago Oliveira Silva, Tania A S S Bachega
{"title":"Newborn screening in Brazil: realities and challenges.","authors":"Carolina Fischinger Moura de Souza, Tássia Tonon, Thiago Oliveira Silva, Tania A S S Bachega","doi":"10.1007/s12687-024-00762-3","DOIUrl":"https://doi.org/10.1007/s12687-024-00762-3","url":null,"abstract":"<p><p>Neonatal screening is a critical public health initiative introduced worldwide to detect severe congenital disorders early in life. This study provides an updated overview of public neonatal screening in Brazil, highlighting the transition from initial pilot projects to a robust national program. Through the analysis of recent data up to 2023, we discuss the coverage and regional efficiencies of the program. Our findings indicate significant improvements in national screening coverage; however, notable disparities persist among different regions. States such as São Paulo, Minas Gerais, Paraná, Santa Catarina, and Brasilia (Federal District) demonstrate high efficiency and coverage rates, while Northern regions continue to face challenges. This study discusses the implications of these disparities and emphasizes the need for continuous efforts to achieve universal and effective neonatal screening across Brazil. The findings underscore the importance of enhancing health policies and resource allocation to ensure timely diagnosis and intervention for all newborns nationwide.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142956655","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Aileen Kenneson, Yasmin Thornton, Chelsea Cole, Sharanya Iyer, Ami R Rosen, Rani H Singh
{"title":"Qualitative assessment of primary care providers' attitudes toward genetic services and genetics education.","authors":"Aileen Kenneson, Yasmin Thornton, Chelsea Cole, Sharanya Iyer, Ami R Rosen, Rani H Singh","doi":"10.1007/s12687-024-00764-1","DOIUrl":"https://doi.org/10.1007/s12687-024-00764-1","url":null,"abstract":"<p><p>As the role of primary care providers (PCPs) in genetic medicine increases, there is a need for training related to the integration of genetics into primary care. However, little is known about PCPs' attitudes towards and perceived needs for such training. We conducted semi-structured interviews with nine PCPs to capture information about their perceptions of their role in genetics and their continuing medical educational needs related to genetics in primary care, and we conducted thematic analysis. The identified themes fell into the following topics: perceptions of genetics, PCPs' roles in genetics, common reasons for referrals to genetic services, barriers to referrals to genetic services, genetic tests ordered by PCPs, and PCPs' educational needs regarding genetics. The most common perception of genetics was for the indication of personal or family history of cancer. PCPs' self-described role in genetics fell into two categories: recognition for when a referral for genetic services is warranted and education of families. Participants were divided in their opinion as to whether they should order genetic tests. PCP's education needs fell into four main categories: how and when to refer to genetic services, test interpretation, basic genetics, and co-management of genetic conditions, with a particular emphasis on cancer. While PCPs expressed an interest in further genetics education, they also questioned the applicability of genetics to their practice. The information obtained in this study can help inform the development of successful education activities and programs in genetics for PCPs.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2025-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142956656","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Breanna J Beers, Hannah R Davidson-Swinton, Katie L Lewis, Michael R Setzer, Magdalena A Walkiewicz, Morgan N Similuk
{"title":"\"I am sick, but that's not all that I am\": patient perspectives on psychological adaptation over time to inborn errors of immunity.","authors":"Breanna J Beers, Hannah R Davidson-Swinton, Katie L Lewis, Michael R Setzer, Magdalena A Walkiewicz, Morgan N Similuk","doi":"10.1007/s12687-024-00758-z","DOIUrl":"https://doi.org/10.1007/s12687-024-00758-z","url":null,"abstract":"<p><p>Inborn errors of immunity (IEI) are rare heritable disorders of the immune system predisposing to atypical infections, autoimmunity, inflammation, and risk of malignancy. Adaptation is the process of incorporating stressful experiences into one's life; these experiences may include onset of illness, receiving a diagnosis, or suffering without a diagnosis. Poor adaptation is linked to adverse outcomes including psychiatric comorbidities and decreased well-being. Most people with chronic illnesses and rare diseases adapt to their condition with time, but little is known about how this happens. We seek to address this gap in knowledge by investigating features of successful adaptation to IEI over time to help providers facilitate this process among those who struggle. We interviewed 20 self-reportedly well-adapted adults with IEI about their experiences of adaptation. We identified three overarching themes. First, many participants grappled with shame and loss but ultimately integrated their illness into their lives through acceptance, gratitude, and self-compassion. Second, knowledge and choice contributed to participants' perceived control, but most participants were also forced to acknowledge the limits of that control when confronting unpredictable symptoms. Finally, social relationships could influence adaptation either positively or negatively. Notably, many participants found meaning in giving back to their communities, especially by educating others about their condition. Ultimately, participants showed that adaptation to life with IEI is complex and ongoing, requiring frequent recalibration to emerging challenges in new life stages. We provide recommendations to providers to help the results of this study shape their discussions with patients.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142932834","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"'Clarifying', 'assuming', and 'reducing' stigma: a commentary on stigma in genetics.","authors":"Gareth M Thomas","doi":"10.1007/s12687-024-00765-0","DOIUrl":"https://doi.org/10.1007/s12687-024-00765-0","url":null,"abstract":"<p><p>The concept of stigma has been applied across many disciplines. Within the context of health and illness, research on stigma tells familiar stories about the impact of a diagnosis on the lives of individuals and their families, and the perceived negative effects of stigma on them and their relationships. This can result in public and private efforts to 'reduce' stigma for certain social groups by raising awareness and sharing more positive stories about their lives. As the editors of this special issue recognise, researching the 'real' or 'imagined' stigmatisation of people with genetic conditions has a long history. However, research on stigma in the context of health and illness often suffers from three shortcomings: (1) the term 'stigma' is rarely clarified; (2) stigma is frequently assumed, and; (3) approaches to reduce stigma are presumed to be simple and without tension. My intention in this commentary is not to deny the very real impact of stigma on people's lives. Instead, I set out to inform how readers across the disciplines of biomedicine, genetic counselling, sociology, anthropology, bioethics, and psychology, among others, can comprehend and further consider the use of stigma as a concept, particularly for those interested in the lives of people with genetic conditions.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142910730","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Zoë Claesen-Bengtson, Karuna R M van der Meij, Joris R Vermeesch, Lidewij Henneman, Pascal Borry
{"title":"Healthcare professionals' experiences with expanded noninvasive prenatal screening: challenges and solutions.","authors":"Zoë Claesen-Bengtson, Karuna R M van der Meij, Joris R Vermeesch, Lidewij Henneman, Pascal Borry","doi":"10.1007/s12687-024-00751-6","DOIUrl":"https://doi.org/10.1007/s12687-024-00751-6","url":null,"abstract":"<p><p>Genome-wide non-invasive prenatal cell-free DNA screening (NIPT) can lead to the early detection of important health-related information for the fetus and pregnant woman. However, the expanding scope of screening heightens information complexity and creates challenges for clinical interactions. This study explored Belgian healthcare professionals' experiences to identify challenges and solutions to expanded NIPT in practice. We assessed experiences of 31 healthcare professionals including clinical geneticists, gynecologists, midwives, counselors, and laboratory specialists, in Belgium where NIPT is publicly reimbursed. The interviews were analyzed inductively and iteratively. Key challenges to expanded NIPT were identified and structured under three headings: (1) Pre-test information provision: The more is tested for, the more complex the information provision becomes; (2) Return of results: Knowing more might be worse than knowing less; and (3) Hurdles that complicate setting a (nation-wide) scope. Solutions mentioned included providing additional resources for counseling, implementing value-based counseling, and a uniform scope of NIPT. To minimize potential harms and to retain trust of NIPT-users, it is crucial that best practices for counseling and reporting results are more substantiated. Sustainable lines of communication should be developed across stakeholder groups to navigate transparent implementation of technological developments in prenatal genetic screening.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-12-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142873255","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Olivia K C Spivack, Mirthe J Klein Haneveld, Simone Louisse, Graham Slater, Inés Hernando
{"title":"Supporting the continuous development and use of a patient partnership framework in European rare disease networks (ERNs): a scoping review of frameworks in the scientific literature.","authors":"Olivia K C Spivack, Mirthe J Klein Haneveld, Simone Louisse, Graham Slater, Inés Hernando","doi":"10.1007/s12687-024-00763-2","DOIUrl":"https://doi.org/10.1007/s12687-024-00763-2","url":null,"abstract":"<p><p>The European Reference Networks (ERNs) for rare and complex diseases offer significant potential for building, maintaining and evaluating patient partnership, for which the recently developed ERN Patient Partnership Framework may serve as guidance. This scoping review aims to identify and describe relevant frameworks published in scientific literature, capturing key learning points to inform future updates of the ERN Patient Partnership Framework and promote its use in practice. MEDLINE, Embase, and the Web of Science Core Collection were searched to identify recently published frameworks (2013-2023) focused on patient partnership and aligned with at least one core ERN activity. Framework characteristics were summarised and information pertaining to their content, structure and practical use was extracted. Twelve relevant frameworks were identified, presenting practical approaches, conceptual understandings or both. Five frameworks focused on areas aligned with specific core ERN activities; others had an overarching scope. Frameworks presented various engagement approaches and employed heterogeneous terminology and development methods. Frameworks differed in their content and structure and presented key considerations for use. Our review underscores the importance of providing clear definitions and explanations of patient partnership. It provides insight into how meaningful, and inclusive patient partnership can be promoted within our diverse ERN context and sheds light on the importance of framework implementation as a prerequisite to structured evaluation. Learning points generated from this review will be used to inform future updates of the ERN Patient Partnership Framework and promote its implementation in practice.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-12-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142873256","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Jade Berlincourt, Sumanie Gächter, Effy Vayena, Kelly E Ormond
{"title":"Experts' perspectives on human gene editing in Switzerland.","authors":"Jade Berlincourt, Sumanie Gächter, Effy Vayena, Kelly E Ormond","doi":"10.1007/s12687-024-00757-0","DOIUrl":"https://doi.org/10.1007/s12687-024-00757-0","url":null,"abstract":"<p><p>Despite many specialized studies on the views of the public or stakeholders who face inherited conditions that may be treatable by HGE, limited studies have focused on experts' views towards Human Gene Editing (HGE). Therefore, in this study we conducted exploratory interviews with 14 experts (scientists, clinicians, social scientists, lawyers) in Switzerland to assess their views towards HGE and how they expect the Swiss public to view HGE. We found general acceptance of Somatic Gene Editing (SGE), but opinions towards Germline Gene Editing (GGE) were more divided. Participants emphasized patient autonomy and informed decision-making in pursuing gene editing treatments, and described a need for regulation, as with any other new therapy. Only a few participants (mostly lawyers and ethicists) described the regulations that currently prohibit GGE in Switzerland. Some expressed concern that restrictive regulations would lead to healthcare outsourcing and medical tourism to other nearby countries, as it has in the past with other restricted technologies. The analysis explored the unique Swiss context that is shaped by cultural diversity, conservative attitudes towards new medical technologies, and a democratic system that engages the public in policy and law making. Given that our findings identify areas of difference from that published in other countries, we emphasize the value in conducting similar research across different countries in order to achieve a global sense of attitudes towards HGE, so that regulations can be tailored to the diverse needs of citizens around the world.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142856107","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Tetske Dijkstra, M Corrette Ploem, Irene M van Langen, Boudien M Y Sieperda, Jacoliene Zaal, Anneke M Lucassen, Els L M Maeckelberghe, Imke Christiaans
{"title":"Development of a digital risk-prediction tool based on family health history for the general population: legal and ethical implications.","authors":"Tetske Dijkstra, M Corrette Ploem, Irene M van Langen, Boudien M Y Sieperda, Jacoliene Zaal, Anneke M Lucassen, Els L M Maeckelberghe, Imke Christiaans","doi":"10.1007/s12687-024-00761-4","DOIUrl":"https://doi.org/10.1007/s12687-024-00761-4","url":null,"abstract":"<p><p>Cardiovascular diseases, both inherited and familial, indicate a risk of early and preventable cardiovascular events for relatives of affected individuals. A digital risk-prediction tool that enables general population individuals to evaluate their cardiovascular risk based on family health history could be a responsible approach to facilitate early detection and improve public health, but development and use of such a tool is not without legal and ethical requirements. At the start of tool development, experts addressed potential legal and ethical implications. Especially European Union (EU) regulations could present potential obstacles for the tool's development, broader availability and general use. A first example is that the EU General Data Protection Regulation does not allow the tool to collect health data about relatives without their consent; the alternative is data anonymisation. This requirement has major consequences for the tool's usefulness and raises ethical concerns about who 'the owner' is of family data. A second example is related to the EU's Medical Device Regulation: if software generates health risks or provides medical advice, it requires a CE mark from a 'notified body', an extensive and costly procedure. In this article, we describe these implications in more detail and discuss possible solutions. To conclude, alongside national law, European law can impact on the development of digital tools that collect family health data to provide information on health risks. We recommend including experts in law and ethics in developmental stages of such tools which are likely to become more frequent in routine public care.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-12-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142824656","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}