Journal of Community Genetics最新文献

{"title":"Re-envisioning community genetics: community empowerment in preventive genomics.","authors":"Hannah Wand, Daphne O Martschenko, Annamaria Smitherman, Sheryl Michelson, Ting Pun, John S Witte, Stuart A Scott, Mildred K Cho, Euan A Ashley","doi":"10.1007/s12687-023-00638-y","DOIUrl":"10.1007/s12687-023-00638-y","url":null,"abstract":"<p><p>As genomic technologies rapidly develop, polygenic scores (PGS) are entering into a growing conversation on how to improve precision in public health and prevent chronic disease. While the integration of PGS into public health and clinical services raises potential benefits, it also introduces potential harms. In particular, there is a high level of uncertainty about how to incorporate PGS into clinical settings in a manner that is equitable, just, and aligned with the long-term goals of many healthcare systems to support person-centered and value-based care. This paper argues that any conversation about whether and how to design and implement PGS clinical services requires dynamic engagement with local communities, patients, and families. These parties often face the consequences, both positive and negative, of such uncertainties and should therefore drive clinical translation. As a collaborative effort between hospital stakeholders, community partners, and researchers, this paper describes a community-empowered co-design process for addressing uncertainty and making programmatic decisions about the implementation of PGS into clinical services. We provide a framework for others interested in designing clinical programs that are responsive to, and inclusive and respectful of, local communities.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"459-469"},"PeriodicalIF":1.9,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9918397/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9586841","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":"Nigerian parents' perspectives on genetic testing in their children with genetic eye diseases.","authors":"Henrietta Ifechukwude Monye,&nbsp;Olusola Oluyinka Olawoye,&nbsp;Mary Ogbenyi Ugalahi,&nbsp;Tunji Sunday Oluleye","doi":"10.1007/s12687-023-00658-8","DOIUrl":"https://doi.org/10.1007/s12687-023-00658-8","url":null,"abstract":"<p><p>The decision for genetic testing in children is usually taken by their parents or caregivers, and may be influenced by sociocultural and ethical concerns. This study evaluateds the perspectives of Nigerian parents towards genetic testing of their children with genetic eye diseases parental willingness for genetic testing in their children, and its determinants, in a hospital setting in Nigeria. This cross-sectional, hospital-based study was conducted at the Eye clinic, University College Hospital, Ibadan. The participants were 42 parents of children with genetic eye diseases purposively recruited from April to July 2021. The main variables of interest were overall willingness to test, and willingness to test given ten different scenarios. Summary statistics were performed, and determinants of willingness to test (parental sociodemographic and children's clinical characteristics) were assessed using Fischer's exact test. All the participants expressed willingness to test when presented with six of the ten scenarios.However, slightly fewer (83-95%) proportions were willing to test for the other four scenarios (out-of-pocket payment, if test will reveal a systemic association, if test may confirm a diagnosis with no current treatment, and prenatal testing). Willingness to test was not significantly associated with the determinants tested. Thirty-nine (93%) would join a support group, 38 (91%) would inform a family member at risk, and 28 (67%) would be unwilling to have more children if there wais a risk to future offspring. This study demonstrated a high degree of parental willingness for genetic testing of their children. This is important evidence that can guide policy and planning of ophthalmic genetics services.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"14 4","pages":"387-394"},"PeriodicalIF":1.9,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10444708/pdf/12687_2023_Article_658.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10440890","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":"The qualitative experiences of otolaryngologists with genetic services in pediatric hearing loss evaluation.","authors":"Aaliyah Heyward,&nbsp;Kelsi Hagerty,&nbsp;Lauren Lichten,&nbsp;Julie Howell,&nbsp;Ching Siong Tey,&nbsp;Kavita Dedhia,&nbsp;Dio Kavalieratos,&nbsp;Nandini Govil","doi":"10.1007/s12687-023-00649-9","DOIUrl":"https://doi.org/10.1007/s12687-023-00649-9","url":null,"abstract":"<p><p>Genetic testing is one of the most high-yield diagnostic tests in the evaluation of pediatric sensorineural (SNHL) hearing loss, leading to a genetic diagnosis in 40-65% of patients. Previous research has focused on the utility of genetic testing in pediatric SNHL and otolaryngologists' general understanding of genetics. This qualitative study examines otolaryngologists' perceptions about facilitators and barriers when ordering genetic testing in the workup of pediatric hearing loss. Potential solutions for overcoming barriers are also explored. Eleven (N = 11) semi-structured interviews were conducted with otolaryngologists in the USA. Most participants were currently practicing in a southern, academic, urban setting and had completed a pediatric otolaryngology fellowship. Insurance was one of the main barriers to testing, and increased genetics provider accessibility was the most frequently cited solution to increase utilization of genetic services. Difficulty acquiring insurance coverage and unfamiliarity with the genetic testing process were the most common reasons otolaryngologists referred patients to genetics clinics for genetic testing, as opposed to ordering testing themselves. This study suggests that otolaryngologists recognize the importance and utility of genetic testing, but a lack of genetics-specific skills, knowledge, and resources makes it difficult for them to facilitate testing. Multidisciplinary hearing loss clinics that include genetics providers may increase the overall accessibility of genetic services.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"14 4","pages":"377-385"},"PeriodicalIF":1.9,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10444707/pdf/12687_2023_Article_649.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10054116","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":"Quality of life of Brazilian families who have children with Fragile X syndrome: a descriptive study.","authors":"Thamires Rosa Dos Santos,&nbsp;Nicoly Stefani Sevalho Carlucci,&nbsp;Lucimar Retto da Silva de Avó,&nbsp;Ingrid Tremel Barbato,&nbsp;Louise Lapagesse de Camargo Pinto,&nbsp;Rui Fernando Pilotto,&nbsp;Carla Maria Ramos Germano,&nbsp;Débora Gusmão Melo","doi":"10.1007/s12687-023-00660-0","DOIUrl":"https://doi.org/10.1007/s12687-023-00660-0","url":null,"abstract":"<p><p>This study aimed to assess the Family Quality of Life (FQoL) of Brazilian families with male children with Fragile X syndrome (FXS). Data from 53 families were collected using forms that included sociodemographic and clinical information, as well as the Beach Center Family Quality of Life Scale, a 5-point Likert scale ranging from \"very dissatisfied\" (1) to \"very satisfied\" (5). The mean overall FQoL score was 3.56 ± 0.79; the emotional well-being domain had the lowest score (2.98 ± 1.11) and showed significant differences between the other domains: family interaction (3.81 ± 0.89; p < 0.001), parenting (3.66 ± 0.89; p < 0.001), physical and material well-being (3.48 ± 0.83; p < 0.001), and disability-related support (3.75 ± 0.98; p < 0.001). Physical and material well-being was the second-lowest domain and was statistically different from the family interaction domain (p = 0.013). Lower FQoL satisfaction ratings were found in families with children who had difficulty getting along with people of the same age (t(51) = -3.193, p = 0.002; d = 1.019) and difficulty in living together on a day-to-day basis (t(51) = -3.060, p = 0.004; d = 0.888). These results highlight the importance of proper emotional support for the family, emphasizing the need to provide assistance not only for individuals with FXS but also for other family members. Besides, we advocate for the adoption of public policies that provide financial assistance to families and the implementation of the Brazilian Policy of Comprehensive Care for People with Rare Diseases.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"14 4","pages":"407-418"},"PeriodicalIF":1.9,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10444934/pdf/12687_2023_Article_660.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10055705","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":"The beta thalassaemia trait in Jamaica.","authors":"G R Serjeant,&nbsp;B E Serjeant,&nbsp;K P Mason,&nbsp;F Gibson,&nbsp;R-A Gardner,&nbsp;L Warren,&nbsp;M Reid,&nbsp;M Happich,&nbsp;A E Kulozik","doi":"10.1007/s12687-023-00657-9","DOIUrl":"https://doi.org/10.1007/s12687-023-00657-9","url":null,"abstract":"<p><p>The objective of this study was to review the prevalence and features of the beta thalassaemia trait in Jamaican populations. Screening of 221,306 newborns over the last 46 years has given an indication of the distribution and prevalence of beta thalassaemia genes, and screening of 16,612 senior school students in Manchester parish, central Jamaica, has provided their haematological features. The prevalence of the beta thalassaemia trait predicted from double heterozygotes was 0.8% of 100,000 babies in Kingston, 0.9% of 121,306 newborns in southwest Jamaica, and 0.9% of school students in Manchester. Mild beta⁺ thalassaemia variants (-88 C>T, -29 A>G, -90 C>T, polyA T>C) accounted for 75% of Kingston newborns, 76% of newborns in southwest Jamaica, and 89% of Manchester students. Severe beta⁺ thalassaemia variants were uncommon. Beta^o thalassaemia variants occurred in 43 patients and resulted from 11 different variants of which the IVSII-849 A>G accounted for 25 (58%) subjects. Red cell indices in IVSII-781 C>G did not differ significantly from HbAA, and this is probably a harmless polymorphism rather than a form of beta⁺ thalassaemia; the removal of 6 cases in school screening had a minimal effect on the frequency of the beta thalassaemia trait. Red cell indices in the beta⁺ and beta^o thalassaemia traits followed established patterns, although both were associated with increased HbF levels. The benign nature of beta⁺ thalassaemia genes in Jamaica means that cases of sickle cell-beta⁺ thalassaemia are likely to be overlooked, and important clinical questions such as the role of pneumococcal prophylaxis remain to be answered.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"14 4","pages":"355-360"},"PeriodicalIF":1.9,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10444720/pdf/12687_2023_Article_657.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10120088","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":"Genetic counseling in sickle cell disease: Insights from the Indian tribal population.","authors":"Pooja Aggarwal, Deepa Bhat","doi":"10.1007/s12687-023-00661-z","DOIUrl":"10.1007/s12687-023-00661-z","url":null,"abstract":"<p><p>Sickle cell disease (SCD) is an inherited disorder of hemoglobin. With an overall prevalence of 4.3%, India is the second-largest hub of SCD after Africa. Genetic counseling (GC) is the most cost-effective intervention to reduce the burden of a genetic disease including SCD. Even though GC's role in reducing SCD birth prevalence is well established, it is still not incorporated into Indian national policy and is unavailable to most Indians approaching their marriageable age and childbirth. GC perception and efficacy have also not been explored yet among young adults, especially in Indian tribal communities. Counseling in these communities requires careful consideration of their socioeconomic, cultural, and ethical values. Community engagement with local tribes and healthcare infrastructure in a multitier approach is essential for an effective GC. This review aims to provide healthcare providers and genetic counselors with the essentials of GC in the prevention and management of SCD among tribal communities based on the author's counseling experience in South India.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"14 4","pages":"345-353"},"PeriodicalIF":1.9,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10444709/pdf/12687_2023_Article_661.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10067957","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":"\"Fruits of our past karma\": a qualitative study on knowledge and attitudes about congenital anomalies among women in Pune district, India.","authors":"Anita Kar,&nbsp;Dipali Dhamdhere,&nbsp;Aishwarya Medhekar","doi":"10.1007/s12687-023-00654-y","DOIUrl":"https://doi.org/10.1007/s12687-023-00654-y","url":null,"abstract":"<p><p>Congenital anomalies are distressing events for future parents/parents when a foetal anomaly is detected during pregnancy or when the infant is born with a disability or a congenital disorder. Maternal health services in India do not provide information on these disorders as part of routine activities. The objective is to understand women's knowledge and attitude on causes, prevention, rights; attituted towards disability; and knowledge on medical care, rehabilitation, and welfare services in Pune district, India, with the goal of identifying the contents of birth defects education resources. The study used a qualitative descriptive design. Six focus group discussions were conducted with 24 women from Pune district. Qualitative content analysis was used to identify emergent themes. Three themes emerged. Firstly, women's knowledge on congenital anomalies was limited. These conditions were discussed generally with other adverse pregnancy experiences, and with reference to children with disabilities. Secondly, pregnancy termination for conditions considered untreatable was majorly advocated by most women. Directive counselling for pregnancy termination by doctors was common. Thirdly, stigmatizing attitudes were responsible for children with disabilities being considered a burden, for maternal blaming, and for the stigma and isolation of families. Knowledge on rehabilitation was limited. The study identified that participants. Three target groups and contents for birth defects education were identified. Women's resources should include knowledge on preconception and antenatal opportunities for reducing risks, available medical care, and legal rights. Parents' resources should provide information on treatment, rehabilitation, legal provisions, and rights of disabled children. Resources for the general community should additionally include disability sensitization messages to ensure the inclusion of children with congenital disabilities.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"14 4","pages":"429-438"},"PeriodicalIF":1.9,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10239211/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10037357","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":"Life story of Iranian parents of a child with phenylketonuria: a qualitative study.","authors":"Marjan Mardani-Hamooleh,&nbsp;Haydeh Heidari","doi":"10.1007/s12687-023-00653-z","DOIUrl":"https://doi.org/10.1007/s12687-023-00653-z","url":null,"abstract":"<p><p>Parents of a child with phenylketonuria (PKU) face many challenges in childcare. It is crucial for health care workers to understand the situation of parents of a child with PKU and their needs. The purpose of this study was to explore the life story of parents with a child with PKU. This qualitative study has been done with a conventional content analysis approach. Twenty-four parents were selected purposefully. A semi-structured interview was conducted. Data analysis identified three main themes, which included parental reactions, consequences of a child with PKU in parents, and parents' needs. Parents of children with PKU can be considered people at risk for mental health because of their feelings of isolation and their lonely struggle to manage the disease and its effects on their child. This study shows that mothers need more support due to the misconceptions in and attitudes of their social environment. Therefore, it is necessary to understand this group, their needs and lives, and provide further support and promote empathy in the health system for the parents.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"14 4","pages":"419-427"},"PeriodicalIF":1.9,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10444926/pdf/12687_2023_Article_653.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10063446","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":"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":"14 4","pages":"361-369"},"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, Wendy Geuverink, Isabel Rosalie Arianne Retel Helmrich, Boy Vijlbrief, Martina Cornel, Sam Riedijk","doi":"10.1007/s12687-023-00652-0","DOIUrl":"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":"14 4","pages":"371-375"},"PeriodicalIF":1.5,"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}