Latina immigrants ’ breast and colon cancer causal attributions: genetics is key
The objective of this study was to describe Latina immigrants’ causa l attributions of breast and colon cancer. We conducted Spanish-language interviews with 22 Latina immigrants using a qualitative exploratory design comprised of freelisting, ranking, and open-ended questions. Participants freelisted causes and risk factors for breast and colon cancer then ranked ri sk factors according to their perceived role in the development of each cancer. CCA was conducted on rank orders to identify whether a cultural consensus model was present. Participants answered semi-structured, open-ended questions regarding the risk factor...
Source: Journal of Community Genetics - November 30, 2023 Category: Genetics & Stem Cells Source Type: research

Survey of attitude to human genome modification in Nigeria
AbstractGene editing and mitochondrial replacement therapy (MRT) are biotechnologies used to modify the host nuclear and mitochondrial DNA, respectively. Gene editing is the modification of a region of the host genome using site-specific nucleases, in particular the clustered regularly interspaced short palindromic repeats (CRISPR)-Cas system. Heritable and somatic genome editing (HGE and SGE) are used in gene therapy. MRT is a technique used to substitute the defective mitochondria in the recipient embryo with a female donor healthy mitochondrion in order to prevent the inheritance of mothers ’ defective mitochondria re...
Source: Journal of Community Genetics - November 23, 2023 Category: Genetics & Stem Cells Source Type: research

Genetic risk prediction in Hispanics/Latinos: milestones, challenges, and social-ethical considerations
AbstractGenome-wide association studies (GWAS) have allowed the identification of disease-associated variants, which can be leveraged to build polygenic scores (PGSs). Even though PGSs can be a valuable tool in personalized medicine, their predictive power is limited in populations of non-European ancestry, particularly in admixed populations. Recent efforts have focused on increasing racial and ethnic diversity in GWAS, thus, addressing some of the limitations of genetic risk prediction in these populations. Even with these efforts, few studies focus exclusively on Hispanics/Latinos. Additionally, Hispanic/Latino populati...
Source: Journal of Community Genetics - November 14, 2023 Category: Genetics & Stem Cells Source Type: research

The impact of the Journal of Community Genetics: Good Health and Wellbeing, Quality Education, and Reduced Inequalities
(Source: Journal of Community Genetics)
Source: Journal of Community Genetics - November 3, 2023 Category: Genetics & Stem Cells Source Type: research

Retrospective chart analysis to determine the impact of a patient-facing digital risk stratification tool combined with a clinical screener for hereditary cancer genetic risk assessment triage in a community oncology clinic
AbstractThe purpose of this study was to evaluate the utility of adding a clinical screener to the patient-facing digital risk stratification tool triage process for the identification of patients eligible for a genetic risk assessment for hereditary cancer. Digital risk stratification entries were retrospectively reviewed to determine the overall number of patients eligible for genetic risk assessment. These were also analyzed to determine how many patients were re-contacted by the clinical screener, and how many of those recontacted patients met criteria after their personal and family history was revised by the clinical...
Source: Journal of Community Genetics - October 27, 2023 Category: Genetics & Stem Cells Source Type: research

Healthcare and support experiences of adolescents and young adults diagnosed with 47,XXY, 47,XXX, and 48,XXYY
AbstractSex chromosome aneuploidies (SCAs) are among the most common chromosomal conditions. There is little scholarship on how adolescents and young adults (AYAs) affected by SCA engage with and adapt to their diagnosis. In order to understand how AYAs adapt to a SCA diagnosis, we conducted a secondary analysis of qualitative interviews with AYAs. Eight in-depth semi-structured interviews with individuals with a diagnosis of 47,XXY, 47,XXX, and 48,XXYY were analyzed for iterative themes related to adaptation to a SCA diagnosis in accordance with standard qualitative methodology. Our findings suggest that the process of ad...
Source: Journal of Community Genetics - October 21, 2023 Category: Genetics & Stem Cells Source Type: research

“There should be one spot that you can go:” BRCA mutation carriers’ perspectives on cancer risk management and a hereditary cancer registry
AbstractIndividuals who carryBRCA1 orBRCA2 pathogenic variants are recommended to have extensive cancer prevention screening and risk-reducing surgeries. Uptake of these recommendations is variable, and there remains room for improvement in the risk management ofBRCA carriers. This paper explores femaleBRCA carriers ’ experiences with the current model of care and their perspectives on (and interest in) an inherited cancer registry. Findings can inform the development of a dedicated high-risk screening and management program for these patients. Quantitative and qualitative data were gathered through a provinc ial descrip...
Source: Journal of Community Genetics - October 21, 2023 Category: Genetics & Stem Cells Source Type: research

Prevalence of beta thalassemia carriers in India: a systematic review and meta-analysis
The objective of this study was to conduct a systematic review of the published studies and conduct a meta-analysis to determine the prevalence of beta thalassaemia carriers in India. A PubMed database search using keywords “beta thalassaemia AND India” identified 1088 articles of which 69 articles were included in the review. Studies using diagnostic tests and methods recommended by the International Council for Standardization in Haematology were used for calculation of pooled prevalence. Pooled prevalence was ca lculated using a random effects model using Review Manager version 5.3. Studies had screened five categor...
Source: Journal of Community Genetics - October 20, 2023 Category: Genetics & Stem Cells Source Type: research

The CPT1A Arctic variant: perspectives of community members and providers in two Alaska tribal health settings
In this study, we sought to elicit Alaska Native (AN) community member and AN-serving healthcare providers ’ knowledge and perspectives on theCPT1A Arctic variant. Focus groups with community members and healthcare providers were held in two regions of Alaska between October 2018 and January 2019. Thematic analysis was used to identify recurring constructs. Knowledge and understanding about theCPT1A Arctic variant and its health impact varied, and participants were interested in learning more about it. Additional education for healthcare professionals was recommended to improve providers ’ ability to communicate with f...
Source: Journal of Community Genetics - October 17, 2023 Category: Genetics & Stem Cells Source Type: research

Receiving de novo genetic diagnoses for autism with intellectual disability: parents ’ views of impacts on families’ reproductive decisions
AbstractParents of children with autism who receive genetic diagnoses ofde novo variants face challenges in understanding the implications for reproductive decision-making. We interviewed 28 parents who receivedde novo genetic diagnoses for their child ’s autism and intellectual disability (ID). These genetic variants proved to have reproductive implications for not only the child’s parents, but the child and his/her neurotypical siblings, aunts, uncles, and cousins. Parents had often already finished building their families but varied, overal l, in whether the results had affected, or might have influenced, their repr...
Source: Journal of Community Genetics - October 16, 2023 Category: Genetics & Stem Cells Source Type: research

Benefits and concerns of expanded carrier screening: what do pregnant Latina women in Texas think?
This study seeks to explore the perceptions of pregnant Latina women about the benefits and concerns related to ECS use. Partnering with prenatal clinics in Texas, we conducted semi-structured qualitative interviews with 32 pregnant Latina women in their second or third trimester of pregnancy. NVivo 8 was used to conduct content analysis and emergent coding of the data. Participants reported the benefits of ECS as helping them prepare for the baby ’s arrival, informing them of the baby’s risk for genetic conditions, ensuring the health of their baby, and preventing diseases before birth. The ECS-related concerns expres...
Source: Journal of Community Genetics - October 14, 2023 Category: Genetics & Stem Cells Source Type: research

A feasible molecular diagnostic strategy for rare genetic disorders within resource-constrained environments
AbstractTimely and accurate diagnosis of rare genetic disorders is critical, as it enables improved patient management and prognosis. In a resource-constrained environment such as the South African State healthcare system, the challenge is to design appropriate and cost-effective assays that will enable accurate genetic diagnostic services in patients of African ancestry across a broad disease spectrum. Next-generation sequencing (NGS) has transformed testing approaches for many Mendelian disorders, but this technology is still relatively new in our setting and requires cost-effective ways to implement. As a proof of conce...
Source: Journal of Community Genetics - October 10, 2023 Category: Genetics & Stem Cells Source Type: research

Relationship satisfaction in adults with phenylketonuria is positively associated with following recommended treatment, having a partner involved in management, and maintaining good health
ConclusionThis study suggests that involvement of partners in the management and treatment of a chronic illness and adherence to recommended treatments can significantly improve relationship satisfaction. (Source: Journal of Community Genetics)
Source: Journal of Community Genetics - October 6, 2023 Category: Genetics & Stem Cells Source Type: research

Ethics of artificial intelligence in prenatal and pediatric genomic medicine
AbstractThis paper examines the ethics of introducing emerging forms of artificial intelligence (AI) into prenatal and pediatric genomic medicine. Application of genomic AI to these early life settings has not received much attention in the ethics literature. We focus on three contexts: (1) prenatal genomic sequencing for possible fetal abnormalities, (2) rapid genomic sequencing for critically ill children, and (3) reanalysis of genomic data obtained from children for diagnostic purposes. The paper identifies and discusses various ethical issues in the possible application of genomic AI in these settings, especially as th...
Source: Journal of Community Genetics - October 5, 2023 Category: Genetics & Stem Cells Source Type: research

Growth in perceived clinical genetics competency among primary care providers participating in genomic population health screening
AbstractLimited competency in genetics among primary care providers (PCPs) is a barrier to use of genetic information in healthcare. Formal genetics lessons require time and interest, and knowledge wanes. We hypothesized another path to competency: participation in our PCP-centered adult clinical genomic population health screening program. We asked participating Family Medicine PCPs about their perceptions of growth in their genetics competency. An anonymous, voluntary, cross-sectional survey was developed and distributed to PCPs offering the screening. Results were compiled after 3  weeks. PCPs rated several program res...
Source: Journal of Community Genetics - October 4, 2023 Category: Genetics & Stem Cells Source Type: research