Journal of Community Genetics最新文献

{"title":"Health-related roles of older generations in families with inherited genetic conditions: a scoping review.","authors":"Carla Roma Oliveira, Catarina Seidi, Jorge Sequeiros, Liliana Sousa, Álvaro Mendes","doi":"10.1007/s12687-024-00713-y","DOIUrl":"10.1007/s12687-024-00713-y","url":null,"abstract":"<p><p>Inherited genetic conditions are family diseases. They affect consanguineous relatives, in lineage for several generations, and impact the family dynamics. Older generations have been considered highly influential in the health management of families with inherited genetic conditions. To our knowledge, no reviews so far addressed the health-related roles of older generations in these families. This scoping review aims to fill that gap by mapping the existent research about the health-roles roles performed by the older generations in families living with autosomal dominant inherited genetic conditions. Four electronic databases were searched: Scopus, Web of Science, PubMed, PsycInfo. Eleven studies were included, and relevant findings were extracted. Main roles included: informers vs. blockers of disease-related information; encouragers vs. discouragers of health screening or genetic testing; (non-)supporters; and role models in living and coping with the disease. The roles played by older generations are relevant to the health management of other family members and can be beneficial to themselves (reciprocal interactions). Acknowledging and understanding these roles is important for professionals and health-services. Results suggest the relevance of an intergenerational perspective when working with families with inherited genetic conditions.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"351-361"},"PeriodicalIF":1.5,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11411034/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141097138","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":"\"Living with a question mark\": psychosocial experience of Portuguese young adults at risk for hereditary amyloid transthyretin amyloidosis with polyneuropathy.","authors":"José D Pereira, Catarina Costa, Andreia Santos, Marina S Lemos, Jorge Sequeiros, Milena Paneque, Álvaro Mendes","doi":"10.1007/s12687-024-00717-8","DOIUrl":"10.1007/s12687-024-00717-8","url":null,"abstract":"<p><p>This study is the first to explore the psychosocial experience of young Portuguese adults at genetic risk for hereditary amyloid transthyretin amyloidosis with polyneuropathy (hATTR-PN). The work focuses on the developmental peculiarities of their experience with the disease. Sixteen semi-structured interviews were conducted with young adults coming for pre-symptomatic testing (PST) at a single genetics outpatient center in Portugal. The data were analyzed qualitatively. The main findings suggest that four themes mark the psychosocial experience of the young adults interviewed. The first refers to the development of psychological representations, namely beliefs, mental representations, and social perceptions about hATTR-PN. The second regards the experienced and anticipated psychosocial impacts, namely, suffering, anxiety, and relief related to the disease. The third is related to using strategies such as performing PST, strategies focused on emotional regulation and the meaning of hATTR-PN, and social strategies to deal with these impacts over time. Finally, the fourth aspect concerns the perceived and expected support for the participants' needs provided by social contexts, that is, family and genetic counseling. In a period of life also marked by qualitatively different characteristics and developmental tasks from other life cycle stages (e.g., identity explorations, instability, and independent decision-making), experience with the disease can add psychosocial challenges to young adults at risk for hATTR-PN. Genetic counseling practices and health policies can be optimized to respond to the psychosocial needs of young adults. Future research should deepen the understanding of the psychosocial experience of individuals and families with late-onset hATTR-PN to improve the clinical response in this population.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"401-411"},"PeriodicalIF":1.5,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11411036/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141555633","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":"Prevalence of congenital anomalies and prenatal diagnosis by birth institution (public vs. non-public): indicators of inequality in access to elective termination of pregnancy for fetal anomalies.","authors":"Paloma Brun, Boris Groisman, María Paz Bidondo, Pablo Barbero, Marianela Trotta, Rosa Liascovich","doi":"10.1007/s12687-024-00714-x","DOIUrl":"10.1007/s12687-024-00714-x","url":null,"abstract":"<p><p>Congenital anomalies (CA) encompass all morphological or functional alterations originating prenatally and present at birth. The prenatal diagnosis of these anomalies can significantly impact the overall health of the pregnant individual and may influence her decision regarding the continuation of the pregnancy. In contexts where safe pregnancy termination is not guaranteed by the state, it can lead to unsafe procedures with severe consequences. In our research, we analyzed epidemiological information on CA to develop potential indicators of inequity in access to safe abortion prior to the legalization of legal termination of pregnancy in Argentina. We included cases from 13 public hospitals and 9 non-public subsector hospitals, from the period 2013-2020. Two groups of specific CA were selected: 1) CA capable of being prenatally diagnosed, and 2) CA related to vascular disruptive events. 10/18 of the selected CA capable of being prenatally diagnosed had a significantly higher prevalence in public hospitals (anencephaly, encephalocele, spina bifida, microcephaly, hydrocephalus, holoprosencephaly, hydranencephaly, diaphragmatic hernia, gastroschisis, bilateral renal agenesis). Non public hospitals had higher prenatal detection. Birth prevalence of CA related with vascular disruptive events (limb reduction, Moebius syndrome, amniotic band sequence) were significantly higher in public hospitals. These results suggest disparities in access to prenatal diagnosis and safe abortion based on socioeconomic status. There was a significant gap in access to prenatal diagnosis for CA and possibly to safe elective abortion depending on the type of institution (public vs. non-public).</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"413-422"},"PeriodicalIF":1.5,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11411032/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141187056","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":"\"Unnatural resources?\": parallels and distinctions between the Newfoundland Genome and traditional resource sectors.","authors":"Janelle Skeard","doi":"10.1007/s12687-024-00715-w","DOIUrl":"10.1007/s12687-024-00715-w","url":null,"abstract":"<p><p>Newfoundland and Labrador (NL) has a long history of resource development, exploitation, and frequent mismanagement. Even before joining the Canadian confederation in 1949, industries such as mining, fishing, and forestry had significantly shaped the province. Recently, a new \"resource\" has been recognized: NL's genetic data, often described as a \"genetic gold mine\" and \"the new oil.\" These analogies reflect the perception of genetic data as a valuable resource, resonating in a province historically reliant on resource extraction. Since the early 2000s, NL's genetic data has been recognized as a unique asset, prompting provincial reports on its management. Renewed interest has emerged with a local biotechnology company aiming to leverage NL's unique genetic architecture. This paper examines the implications of conceptualizing genetic information as a resource, exploring how this fits within existing resource development frameworks and policies, and considering its potential to shape policies for managing the benefits and burdens of genetic data exploitation. I conclude that while the NL genome is not a natural resource in the traditional sense, the province nevertheless needs to take more direct responsibility for its development and to ensure that any potential benefits from exploiting it are shared with the population.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"449-459"},"PeriodicalIF":1.5,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11410739/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141421389","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 family communication preferences in hereditary breast and ovarian cancer and Lynch syndrome: a national Canadian survey.","authors":"Kimberly Burke, Lesa Dawson, Kathleen Hodgkinson, Brenda J Wilson, Holly Etchegary","doi":"10.1007/s12687-024-00720-z","DOIUrl":"10.1007/s12687-024-00720-z","url":null,"abstract":"<p><strong>Background: </strong>Individuals affected with cancer predisposition (CPS) syndromes such as BRCA1, BRCA2 or Lynch syndrome (LS) are at an elevated risk of multiple cancers. Identifying high-risk individuals is important if they are to access risk-reducing strategies. Interventions such as risk-reducing salpingo-oophorectomy in carriers of BRCA pathogenic or likely pathogenic (P/LP) variants or regular colonoscopy for carriers of LS P/LP variants are highly effective and reduce mortality. Despite clear evidence that the identification of at-risk relatives has value, the uptake of cascade testing remains at approximately 50%. It is important to understand strategies and barriers to testing to facilitate communication in families identified as haveing a hereditary cancer syndrome, to improve uptake of counselling and testing.</p><p><strong>Method: </strong>A national online survey of both Canadian probands (the first member in a family to have genetic testing and who were variant positive, regardless of a cancer diagnosis) and their at-risk relatives. Respondents were individuals affected with hereditary breast and ovarian cancer (HBOC) and LS. The survey was constructed based on a review of the literature and authors' feedback. Both open and closed-ended questions were used for items on demographic characteristics, risk perception, genetic test results and cancer diagnosis. Items on experiences with hereditary cancer risk communication, communication challenges, preferences and supports required were explored using a 5-point Likert scale.</p><p><strong>Results: </strong>Responses indicated a high level of acceptance for the proband's direct involvement in family communication with the support of a health care provider (67% among the probands given a family letter and 55-57% among those who were not given a family letter). Respondents without a personal history of cancer were more likely to endorse a health care professional's help with family communication compared to those with a personal history of cancer (p = 0.031). Preferences for family member outreach also varied by education level, annual income, marital status and geographic location. Similarities were noted between the probands and relatives on communication outreach preferences.</p><p><strong>Conclusion: </strong>While the family-mediated approach to communication remains the standard across many cancer genetics programs, participants note that additional support is necessary for dissemination of result information among relatives. Because family dynamics and communication vary widely, alternative options that retain the probands' involvement in family communication but add support from a health care provider should be explored.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"387-400"},"PeriodicalIF":1.5,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11410744/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141753099","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":"Is Tunisia ready for precision medicine? Challenges of medical genomics within a LMIC healthcare system.","authors":"Narjes Trabelsi, Houcemeddine Othman, Hafsi Bedhioufi, Hamza Chouk, Haïfa El Mabrouk, Marwa Mahdouani, Moez Gribaa, Ali Saad, Dorra H'mida","doi":"10.1007/s12687-024-00722-x","DOIUrl":"10.1007/s12687-024-00722-x","url":null,"abstract":"<p><p>As one of the key tools on the precision medicine workbench, high-throughput genetic testing has enormous promise for improving healthcare outcomes. Tunisia has made tremendous progress in acquiring and implementing the technology in the clinical context. However, current utilization does not ensure the whole range of benefits that high-throughput genomic testing provides which impedes the country's ability to move forward into the new era of precision medicine. This issue is primarily related to the current state of Tunisia's healthcare ecosystem and the sociological attributes of its population, creating numerous challenges that must be addressed. In the current review, we aimed to identify and highlight these challenges that may be prevalent in other low and middle-income countries. Essentially, they fall into three main categories that include the socio-economic landscape in Tunisia, which prevents citizens from engaging in precision medicine activities; the current settings of the healthcare system that lack or miss key components for the successful implementation of precision medicine practices; and the inability of the current infrastructure and resources to handle the various challenges related to genomic data and metadata. We also propose five pillar solutions as a framework for addressing all of these challenges, which could strengthen Tunisia's capability for effective precision medicine implementation in today's clinical environment.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"339-350"},"PeriodicalIF":1.5,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11411033/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141856827","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":"Congenital anomalies in Santa Catarina, Southern Brazil: macroregional and temporal birth prevalence for the period 2011-2020.","authors":"Laysa Kariny Krieck, Márcia Helena Barbian, Lavinia Schuler-Faccini, Betine Pinto Moehlecke Iser","doi":"10.1007/s12687-024-00716-9","DOIUrl":"10.1007/s12687-024-00716-9","url":null,"abstract":"<p><p>Congenital anomalies (CAs) are an important cause of infant mortality and efficient surveillance is necessary for their prevention. Therefore, the objective of this study is to establish baselines of prevalence at birth of priority CAs for surveillance in the state of Santa Catarina, using data from the Live Birth Information System considering the period 2011-2019 (baseline) and 2020 (pandemic year). The analyses were carried out based on the mother's residence health macroregion. The CAs were selected following the ICD-10 coding for chapter XVII. Birth prevalence was calculated per 10,000 live births and the confidence interval was established at 95%. 2011-2019 recorded 88.8/10,000 births with CAs (total). For 2011-2019, limb defects (without polydactyly) were the most prevalent (14.1/10,000), followed by congenital heart defects (8.9), oral clefts (8.2), polydactyly (7.9), Down syndrome (5.6), hypospadias (5.4), neural tube defects (4.7), gastroschisis (3.3), undefined sex (1.2), microcephaly (0.8) and omphalocele (0.3). There were no significant differences in temporal and spatial distribution. However, unusual fluctuations were observed in 2020, which may reflect the pandemic in CAs notifications. In the base period, Santa Catarina recorded CAs below the expected level of being identified at birth. With this, we conclude that the training and awareness of teams are essential for the surveillance of CAs in Santa Catarina.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"423-431"},"PeriodicalIF":1.5,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11411025/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141451851","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":"Family communication of cancer genetic test results in an ethnically diverse population: a qualitative exploration of more than 200 patients.","authors":"Rachel Hodan, Miles Picus, Caroline Stanclift, Kelly E Ormond, Jennifer Morales Pichardo, Allison W Kurian, Charité Ricker, Gregory E Idos","doi":"10.1007/s12687-024-00712-z","DOIUrl":"10.1007/s12687-024-00712-z","url":null,"abstract":"<p><p>Previous research on family communication of cancer genetic test results has primarily focused on non-Hispanic White patients with high-risk pathogenic variants (PV). There are limited data on patient communication of moderate-risk PVs, variants of uncertain significance (VUS), and negative results. This qualitative study examined communication of positive, negative, and VUS hereditary cancer multi-gene panel (MGP) results in an ethnically and socioeconomically diverse population. As part of a multicenter, prospective cohort study of 2000 patients who underwent MGP testing at three hospitals in California, USA, free-text written survey responses to the question: \"Feel free to share any thoughts or experiences with discussing genetic test results with others\" were collected from participant questionnaires administered at 3 and 12-months post results disclosure. Content and thematic analyses were performed using a theory-driven analysis, Theory of Planned Behavior (TPB), on 256 responses from 214 respondents. Respondents with high perceived utility of sharing genetic test results often reported positive attitudes towards sharing test results and direct encouragement for genetic testing of others. Respondents with high self-efficacy in the sharing process were likely to report high perceived utility of sharing, whereas patients with low self-efficacy more often had VUS results and were more likely to report uncertainty about sharing. Consistent with TPB, our findings suggest that clinician reinforcement of the utility of genetic testing may increase intent for patients to communicate genetic information. Our findings suggest that clinicians should focus on strategies to improve patient understanding of VUS results.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"363-374"},"PeriodicalIF":1.5,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11410745/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141176517","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":"Caregiver-reported barriers to care for children and adults with Williams Syndrome.","authors":"Elizabeth W Barnhardt, Marilee Martens, Rebecca Andridge, Jennifer Walton","doi":"10.1007/s12687-024-00707-w","DOIUrl":"10.1007/s12687-024-00707-w","url":null,"abstract":"<p><p>Individuals with Williams syndrome (WS) may experience a variety of medical, behavioral, and educational concerns. The primary objective of this study was to assess barriers to health care for patients with WS, primarily using the Barriers to Care Questionnaire (BCQ), and to assess whether various demographic factors are correlated with these barriers. A REDCap survey was distributed using the Williams Syndrome Association Research Registry. 319 caregivers of individuals with WS in the United States completed the BCQ. On the BCQ, lower scores indicate more barriers to care. Younger age was associated with lower scores for both the pragmatics and the skills subscales while lower income levels and increased distances to providers knowledgeable about WS were consistently associated with lower total BCQ scores.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"375-386"},"PeriodicalIF":1.5,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11411038/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141076804","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 of genetics and attitudes toward genetic testing among university students in Indonesia.","authors":"Iskandar Hermanto, Cindy Kurniawati Chandra, Agustini Utari, Tri Indah Winarni, Ferdy Kurniawan Cayami","doi":"10.1007/s12687-024-00711-0","DOIUrl":"10.1007/s12687-024-00711-0","url":null,"abstract":"<p><p>The development in human genetics must be tracked with the knowledge to provide support and positive attitudes towards genetic research and its healthcare applications, including genetic testing. Unfortunately, there has been a delay in enacting public policies related to the genetics professionals as well as the diagnosis, treatment, and prevention of genetic diseases in Indonesia. This research was conducted to build an overview of genetic knowledge and public attitudes toward genetic testing among Indonesian undergraduates. This cross-sectional study involved undergraduate students selected using the convenience sampling method. The questionnaire consisted of two parts: a true/false questionnaire (16 statements) regarding knowledge of genetics and a 5-points Likert scale questionnaire (27 statements) pertaining to attitudes towards genetic testing. A total of 1596 undergraduate students completed online questionnaire. The highest knowledge score and the most positive overall attitudes were observed in the healthcare-related majors compared to those who studied science and technology and social and humanity. A weak positive correlation was observed between knowledge and attitude toward genetic testing (Pearson's r = 0.206, p < 0.001). Undergraduate students from healthcare-related majors displayed better in both knowledge of genetics and had more positive attitudes toward genetic testing.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"433-447"},"PeriodicalIF":1.5,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11410749/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141293819","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}