Lost in print: difficulty in reading online information pertaining to phenylketonuria
This study assessed the readability of 100 digital articles related to PKU and explored the effect of the source of online information on the readability of these articles. For each article, 5 readability tests were conducted using on-line readability software. From the 100 assessed websites, 34% were commercially sourced. Of the remaining 66 sites, 40% had.org and 17% had.gov extensions. All 5 tests confirm that a large majority of the sample was written at an unacceptable reading level. In fact, over two-thirds of the sample received a readability score within the difficult range for three of the tests, while the remaini...
Source: Journal of Community Genetics - December 11, 2022 Category: Genetics & Stem Cells Source Type: research
Identification of psychoeducation needs and an intervention response for pre-symptomatic Huntington ’s disease
Abstract
People who are aware that they are gene-positive for Huntington ’s disease (HD) may face an array of personal, relationship, social, financial and employment challenges prior to the onset of the disease. These challenges have been associated with increased psychological problems such as anxiety and depression. Information and support for people with pre-symp tomatic HD is indicated, but there is a scarcity of research and service models to inform psychological interventions. We trialled an intervention strategy involving psychoeducation forums designed specifically for pre-symptomatic HD. In phase I of the...
Source: Journal of Community Genetics - December 10, 2022 Category: Genetics & Stem Cells Source Type: research
Genes, exposures, and interactions on preterm birth risk: an exploratory study in an Argentine population
AbstractPreterm birth (PTB) is the main condition related to perinatal morbimortality worldwide. The aim of this study was to identify associations of spontaneous PTB with genetic variants, exposures, and interactions between and within them. We carried out a retrospective case –control study including parental sociodemographic and obstetric data, and fetal genetic variants. We sequenced the coding and flanking regions of five candidate genes from the placental blood cord of 69 preterm newborns and 61 at term newborns. We identify the characteristics with the greatest pr edictive power of PTB using penalized regressions,...
Source: Journal of Community Genetics - December 1, 2022 Category: Genetics & Stem Cells Source Type: research
Parents ’ perspectives on the use of children’s facial images for research and diagnosis: a survey
This study aimed to investigate parents’ views regarding the collection, storage, use and publication of their children’s facial images for research and diagnostic purposes. A total of 151 parents of children with and without congenital disorders comple ted an online survey evaluating their views on the collection, storage, use and publication of children’s facial images for research and diagnosis. Overall, 72.5% of parents would allow researchers to take facial photographs of their children, preferring the images to be stored in a secure databas e that is not available to the public. Parents of children with congeni...
Source: Journal of Community Genetics - December 1, 2022 Category: Genetics & Stem Cells Source Type: research
Sickle cell disease-related knowledge and perceptions of traditional healers in tribal communities in India: implications on sickle cell disease programme
This study aimed to understand the extent of SCD-related knowledge and practices of traditional healers and their willingness to participate in the SCD programme, which is primarily meant to screen and treat SCD. Following the grounded theory approach, data were collected by in-depth interviews with 40 traditional healers selected from five SCD endemic districts. Text data were coded through a deductive approach, and thematic content analysis was carried out. A few healers knew about SCD. However, almost all are aware of anaemia and its symptoms. Most healers were unaware of the cause of SCD and mentioned that malnutriti...
Source: Journal of Community Genetics - December 1, 2022 Category: Genetics & Stem Cells Source Type: research
Knowledge and awareness of sickle cell disease: a cross sectional study amongst unmarried adults in Nigeria ’s capital city
This study aimed at assessing awareness and knowledge of unmarried adults in Nigeria ’s capital. A cross sectional survey was undertaken amongst unmarried individuals residing in the Federal Capital Territory. Questionnaires were administered to participants using convenience sampling strategy. Data were analysed using Statistical Package for Social Sciences version 25. Descripti ve and inferential statistical analyses were carried out. A total of 1423 questionnaires were completed and returned, response rate was 83.71%, male participants were in the majority as indicated by 52% of the sample, and the dominant age group...
Source: Journal of Community Genetics - December 1, 2022 Category: Genetics & Stem Cells Source Type: research
The perception of parents with a child with sickle cell disease in Ghana towards prenatal diagnosis
Abstract
Sickle cell disease is a global health concern. In the UK and USA, where the condition is common, prenatal testing is a routine aspect of antenatal care and offered on the basis of informed reproductive choice. Notwithstanding considerable advances in testing technologies, prenatal diagnosis for sickle cell disease is not common in Africa. There is a particular lack of research examining parental perceptions about the acceptability of antenatal screening. This qualitative paper explores the perceptions of parents, who had lived experiences of caring for a child with SCD, towards prenatal testing for sickle cell...
Source: Journal of Community Genetics - December 1, 2022 Category: Genetics & Stem Cells Source Type: research
Genetic screening of relatives of decedents experiencing sudden unexpected death: medical examiner ’s office referrals to a multi-disciplinary cardiogenetics program
AbstractCurrently, no standardized system exists for evaluating and testing at-risk family members of decedents with abnormal post-mortem genetic testing in cases of sudden unexpected death (SUD). The goal of this study was to evaluate the outcomes of referrals made by an urban medical examiner ’s office to a multi-disciplinary cardiogenetics clinic. Relatives of decedents with pathogenic/likely pathogenic (P/LP) variants or variants of unknown significance (VUS) in genes known to be associated with cardiomyopathies and/or arrhythmias were identified by the New York City Office of Chief Medical Examiner and referred to t...
Source: Journal of Community Genetics - December 1, 2022 Category: Genetics & Stem Cells Source Type: research
Experiences of individuals receiving a sex chromosome multisomy diagnosis
This study aims to help providers better understand the patient experience of receiving a diagnosis. We conducted a survey of individuals (n = 55) with SCMs using closed and open-ended questions. Open-response questions were qualitatively analyzed and are reported here with the descriptive results of the closed-ended questions. Most participants were diagnosed with 47,XXY (n = 51; 85.0%), identified as White race/ethnicity (n = 46; 88.5%), and were college graduates or higher (n = 29; 54.7%). Many participants reported dissatisfaction with the delivery of the diagnosis, expressing that it was rushed and th...
Source: Journal of Community Genetics - December 1, 2022 Category: Genetics & Stem Cells Source Type: research
Stakeholder knowledge and attitudes toward the use of predictive genetic testing in South Africa
This study aimed to assess end users ’ (community, medical practitioners and medical students) knowledge and attitudes regarding the use and support of genomic medicine. A descriptive cross-sectional survey was conducted in Kwazulu-Natal (KZN) among 3 groups of stakeholders (n = 170): medical practitioners from both private and public healthcare, medical students from UKZN and community members represented by teachers. Three structured questionnaires using a Likert scale were administered. Responses were stratified by practice type, and a scoring scale was developed. Principal component analysis (PCA) was used to red...
Source: Journal of Community Genetics - December 1, 2022 Category: Genetics & Stem Cells Source Type: research
Interest in genetic testing and risk-reducing behavioral changes: results from a community health assessment in New York City
We examined overall interest in genetic testing for cancer risk assessment and willingness to change behavior, and whether these are affected by demographic or socioeconomic factors.We conducted a community needs health survey in 2019 among primary care and cancer patients, family members and community members in New York City. We used univariable analysis and relative risk regression to examine interest in genetic cancer risk testing and willingness to modify lifestyle behaviors in response to an informative genetic test.Of the 1225 participants, 74.0% (n = 906) expressed interest in having a genetic test to assess ca...
Source: Journal of Community Genetics - December 1, 2022 Category: Genetics & Stem Cells Source Type: research
Human genetics education as part of the Japanese Cancer Education Comprehensive Support Project
AbstractIn Japan, cancer education has been initiated with children as a measure against cancer. Cancer genome medicine, which is a social implementation, includes aspects of genetic medicine. For this reason, it is assumed that content related to “genetics” is also necessary in cancer education. To investigate the actual situation regarding the teaching of genetics in cancer education, we conducted a questionnaire survey of schoolteachers involved in cancer education; these schoolteachers belonged to the model school of the Cancer Educat ion Comprehensive Support Project. Regarding genetic content, we asked questions ...
Source: Journal of Community Genetics - November 30, 2022 Category: Genetics & Stem Cells Source Type: research
