Genetic counseling in sickle cell disease: Insights from the Indian tribal population
AbstractSickle 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. Cou...
Source: Journal of Community Genetics - August 4, 2023 Category: Genetics & Stem Cells Source Type: research
Identification of maternal attitudes and knowledge about newborn screenings: a Turkey sample
This study was planned to determine maternal attitudes and knowledge about newborn screening. The universe of the descriptive study consisted of postpartum mothers living in the centers of three provinces in the north and east of Turkey. The sample included mothers who were older than 18 years of age, who could read and write Turkish, whose babies were in the 24th and 72nd hour after birth, and who volunteered to take part in the study. The study was completed with 407 mothers. The data were collected with the face-to-face interview method by the researchers using the “Descripti ve Information Form” and the “Matern...
Source: Journal of Community Genetics - August 3, 2023 Category: Genetics & Stem Cells Source Type: research
Nigerian parents ’ perspectives on genetic testing in their children with genetic eye diseases
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-sectiona l, 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, ...
Source: Journal of Community Genetics - July 27, 2023 Category: Genetics & Stem Cells Source Type: research
A pilot evaluation of an 8-week mindfulness-based stress reduction program for people with pre-symptomatic Huntington ’s disease
AbstractPeople 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...
Source: Journal of Community Genetics - July 17, 2023 Category: Genetics & Stem Cells Source Type: research
Adolescents ’ experiences and views of the national school-based thalassaemia screening programme in Malaysia: a qualitative study
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...
Source: Journal of Community Genetics - July 1, 2023 Category: Genetics & Stem Cells Source Type: research
The beta thalassaemia trait in Jamaica
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+ thalassaemi...
Source: Journal of Community Genetics - June 30, 2023 Category: Genetics & Stem Cells Source Type: research
“What if” should precede “whether” and “how” in the social conversation around human germline gene editing
AbstractGiven 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...
Source: Journal of Community Genetics - June 16, 2023 Category: Genetics & Stem Cells Source Type: research
The role of polygenic risk scores in breast cancer risk perception and decision-making
AbstractPolygenic risk scores (PRS) have the potential to improve the accuracy of clinical risk assessments, yet questions about their clinical validity and readiness for clinical implementation persist. Understanding how individuals integrate and act on the information provided by PRS is critical for their effective integration into routine clinical care, yet few studies have examined how individuals respond to the receipt of polygenic risk information. We conducted an embedded Ethical, Legal, and Social Implications (ELSI) study to examine if and how unaffected participants in a US population breast cancer screening tria...
Source: Journal of Community Genetics - June 13, 2023 Category: Genetics & Stem Cells Source Type: research
Life story of Iranian parents of a child with phenylketonuria: a qualitative study
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. (Source: Journal of Community Genetics)
Source: Journal of Community Genetics - June 6, 2023 Category: Genetics & Stem Cells Source Type: research
“Fruits of our past karma”: a qualitative study on knowledge and attitudes about congenital anomalies among women in Pune district, India
The objective is to understand women's knowledge and attitude on causes, prevention, rights; attituted towards disability; and knowledge on medical care, rehabilita tion, 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 i dentify emergent themes. Three themes emerged. Firstly, women’s knowledge on congenital anomalies was limited. These conditions were discussed generally with othe...
Source: Journal of Community Genetics - June 3, 2023 Category: Genetics & Stem Cells Source Type: research
Digital interventions for genomics and genetics education, empowerment, and service engagement: A systematic review
ConclusionDigital interventions may be used to deliver information about genetics concepts and conditions, and positively impact service engagement. However, there is insufficient evidence related to empowering patients and engaging underserved communities or consanguineous couples. Future work should focus on co-developing content with end users and incorporating interactive features. (Source: Journal of Community Genetics)
Source: Journal of Community Genetics - May 18, 2023 Category: Genetics & Stem Cells Source Type: research
The qualitative experiences of otolaryngologists with genetic services in pediatric hearing loss evaluation
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 clin ics that include genetics providers may increase the overall accessibility of genetic services. (Source: Journal of Community Genetics)
Source: Journal of Community Genetics - May 8, 2023 Category: Genetics & Stem Cells Source Type: research
Knowledge, attitude, and perceptions about cancer genetic testing in clinical practice in Karachi, Pakistan
AbstractHealthcare 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...
Source: Journal of Community Genetics - May 5, 2023 Category: Genetics & Stem Cells Source Type: research
Clinical utility of polygenic risk scores: a critical 2023 appraisal
In conclusion, the benefit to individual patients or the health care system in general of PRS-based extensions of existing diagnostic or treatment regimens is still difficult to judge. (Source: Journal of Community Genetics)
Source: Journal of Community Genetics - May 3, 2023 Category: Genetics & Stem Cells Source Type: research
Evaluating cancer genetic services in a safety net system: overcoming barriers for a lasting impact beyond the CHARM research project
AbstractUnderserved patients face substantial barriers to receiving cancer genetic services. The Cancer Health Assessments Reaching Many (CHARM) study evaluated ways to increase access to genetic testing for individuals in underserved populations at risk for hereditary cancer syndromes (HCS). Here, we report the successful implementation of CHARM in a low-resource environment and the development of sustainable processes to continue genetic risk assessment in this setting. The research team involved key clinical personnel and patient advisors at Denver Health to provide input on study methods and materials. Through iterativ...
Source: Journal of Community Genetics - May 1, 2023 Category: Genetics & Stem Cells Source Type: research
