Patient perspectives on pharmacogenomic (PGx) testing for antidepressant prescribing in primary care: a qualitative description study
This study provides policymakers with patient priorities to facilitate the development of patient-centred policies. It highlights that formal adoption of PGx testing into the healthcare system requires a focus on equity of access and health outcomes. (Source: Journal of Community Genetics)
Source: Journal of Community Genetics - April 8, 2024 Category: Genetics & Stem Cells Source Type: research
Comparative assessment of quality of life among adolescents with sickle cell disease and sickle cell trait: evidence from Odisha, India
This study found a significantly lower health-related QOL in adolescents wit h SCD. However, most psychosocial sub-domains, for instance, worry about the illness, frequency of angry days, feeling jealousness toward other normal adolescents, and negative feelings of sadness on some days, are similarly affected in adolescents with SCT and SCD. The overall QOL of SCD individual s is more affected (percentage of affected mean score = 60.93%), followed by SCT individuals (35.63%). Healthy adolescents' QOL is relatively unaffected (13% were affected). The yearly frequency of blood transfusion received (1.7 ± 0.4) and ho...
Source: Journal of Community Genetics - April 8, 2024 Category: Genetics & Stem Cells Source Type: research
A collaborative model for Medical Genetics services delivery in Portugal: a multidisciplinary perspective
(Source: Journal of Community Genetics)
Source: Journal of Community Genetics - March 7, 2024 Category: Genetics & Stem Cells Source Type: research
Research biobank participants attitudes towards genetic exceptionalism and health record confidentiality
AbstractUnderstanding attitudes towards genetic exceptionalism and confidentiality is important in guiding policies regarding special protections for genetic/genomic information stored in electronic health records (EHR). The goals of this study were to determine biobank participants ’ attitudes towards genetic exceptionalism and confidentiality and whether those attitudes are related to their preference for return of genetic results. An online questionnaire was distributed to patients with an EHR and email address who had previously enrolled in the BioMe Biobank program. Most participants responded with similar levels of...
Source: Journal of Community Genetics - March 5, 2024 Category: Genetics & Stem Cells Source Type: research
The urgency for a change in genetics healthcare provision: views from Portuguese medical geneticists
This study aimed to promote sharing and discussion among genetic medical professionals, to outline concrete actions to address gaps in clinical practice. Three focus groups were conducted with 19 specialists in medical genetics. The data were analyzed using the thematic analysis method to extract the main themes from the discussions. From the analysis, four conceptual themes emerged: (i) framing Portuguese genetic services in light of the European context; (ii) improvement of medical genetics education and population literacy; (iii) transforming of medical genetics services; and (iv) operationalizing the change. The result...
Source: Journal of Community Genetics - March 1, 2024 Category: Genetics & Stem Cells Source Type: research
Understanding perceptions of tumor genomic profile testing in Black/African American cancer patients in a qualitative study: the role of medical mistrust, provider communication, and family support
AbstractTumor genomic profiling (TGP) examines genes and somatic mutations specific to a patient ’s tumor to identify targets for cancer treatments but can also uncover secondary hereditary (germline) mutations. Most patients are unprepared to make complex decisions related to this information. Black/African American (AA) cancer patients are especially at risk because of lower health literacy , higher levels of medical mistrust, and lower awareness and knowledge of genetic testing. But little is known about their TGP attitudes or preferences. Five in-person focus groups were conducted with Black/AA cancer patients (N =...
Source: Journal of Community Genetics - February 16, 2024 Category: Genetics & Stem Cells Source Type: research
Public participation in human genome editing research governance: what do scientists think?
AbstractWithin the numerous policy and governance recommendations for human genome editing research, anticipatory public engagement seems universally agreed upon as a vital endeavor. Yet it is unclear whether and how scientists whose research involves genome editing see value in engaging the public in discussions of genome editing research governance. To address this question, we interviewed 81 international scientists who use genome editing in their research. The views of our scientist interviewees about public engagement occupied a broad spectrum from enthusiastic support to strong skepticism. But most scientists ’ vie...
Source: Journal of Community Genetics - February 14, 2024 Category: Genetics & Stem Cells Source Type: research
Development of a culturally targeted chatbot to inform living kidney donor candidates of African ancestry about APOL1 genetic testing: a mixed methods study
AbstractClinical chatbots are increasingly used to help integrate genetic testing into clinical contexts, but no chatbot exists forApolipoprotein L1 (APOL1) genetic testing of living kidney donor (LKD) candidates of African ancestry. Our study aimed to culturally adapt and assess perceptions of the Gia ® chatbot to help integrateAPOL1 testing into LKD evaluation. Ten focus groups and post-focus group surveys were conducted with 54 LKDs, community members, and kidney transplant recipients of African ancestry. Data were analyzed through thematic analysis and descriptive statistics. Key themes about making Gia culturally tar...
Source: Journal of Community Genetics - February 13, 2024 Category: Genetics & Stem Cells Source Type: research
Endline assessment of knowledge about sickle cell disease among the tribal community of Chhotaudepur district of Gujarat
AbstractSickle cell disease (SCD) is a significant public health concern in India, with one of the highest disability burdens worldwide. For the success of the disease prevention and control program that aims to reduce prevalence through health promotion and screening, the public ’s prior knowledge of the disease is important. Hence, this study was conducted to assess baseline knowledge of the disease and effects of health education and community mobilization program in the SCD endemic tribal community of Gujarat. This quasi-experimental study was conducted in three phases at Chhotaudepur district of Gujarat, India. Know...
Source: Journal of Community Genetics - February 9, 2024 Category: Genetics & Stem Cells Source Type: research
Attitudes of medical professionals toward fragile X carrier screening and genetic counseling in China
In this study, we investigated the attitudes of 450 Chinese medical professionals who received fragile X trainin g on fragile X carrier screening and genetic counseling. Before the training, 57.6% of the respondents were unfamiliar with FXS. After the training, 7.3% of participants are unable to fully master the knowledge. Furthermore, 71.8% believe that the absence of phenotypes during the reproductive age an d the availability of simple and feasible testing methods are prerequisites for screening. The presence of the phenotype would still require screening. Regarding the target population, over 90% of the participants su...
Source: Journal of Community Genetics - January 26, 2024 Category: Genetics & Stem Cells Source Type: research
Advertisement by medical facilities as an opportunity route of APOE genetic testing in Japan: a website analysis
AbstractTheAPOE- ε4 allele(s) is a strong risk factor for Alzheimer’s disease (AD). A significant point of access for this allele testing is through services provided by medical facilities in Japan, which advertise out-of-insurance APOE testing on their websites. There is a concern that website advertisements forAPOE testing may influence the ability for individuals to adequately self-determine whether to undergoAPOE testing. We conducted a cross-sectional survey on medical facility websites in Japan advertisingAPOE genetic testing. We predefined desirable features for advertisement descriptions based on legal regulatio...
Source: Journal of Community Genetics - January 16, 2024 Category: Genetics & Stem Cells Source Type: research
Empowerment of genetic information by women at-risk of being carriers of Duchenne and Becker muscular dystrophies
This study evaluates the process of genetic counseling and empowerment of genetic information by women from DBMD families. We carried out a cross-sectional study between February and June 2022 in Brazil. The online survey with items regarding sociodemographic data; family history; access to health services; reproductive decisions; and the Genomic Outcome Scale was answered by 123 women recruited from a rare diseases reference service and a nationwide patient advocacy group. Genetic counseling was reported by 77/123 (62.6%) of women and 53.7% reported having performed genetic analysis ofDMD. Although the majority knew about...
Source: Journal of Community Genetics - January 2, 2024 Category: Genetics & Stem Cells Source Type: research
Wikipedia as an academic service-learning tool in science and technology: higher education case from Siberia
AbstractWikipedia, the open crowdsourced encyclopedia that anyone can edit, ranks among the top ten most-visited websites globally. Its integration into university curriculum as an innovative educational tool is a slowly growing trend; however, many higher education institutions have yet to fully grasp its potential. In response, a specific optional module for Wikipedia editing, designed for the selected undergraduate science courses at the School of Advanced Studies, Russia, was implemented as an optional extra credit service-learning activity, a teaching methodology combining meaningful service to the community with curr...
Source: Journal of Community Genetics - December 21, 2023 Category: Genetics & Stem Cells Source Type: research
Educational tools support informed decision-making for genetic carrier screening in a heterogenic Israeli population
This study evaluated the impact of two educational tools on an informed choice on RGCS uptake and satisfaction with counselling within a heterogeneous population in northern Israel. Participants from diverse sociodemographic population groups were randomly assigned to watch an animated film, read a booklet conveying the same information, or receive no information before counselling for RGCS, and asked to complete pre- and post-counselling questionnaires. A higher informed-decision rate was demonstrated in the film (n=93/141, 66%) and booklet (n=88/131, 67%) groups vs. the non-intervention group (n=62/143, 43%) (P<0.001)...
Source: Journal of Community Genetics - December 20, 2023 Category: Genetics & Stem Cells Source Type: research
Training of community health agents — a strategy for earlier recognition of mucopolysaccharidoses
AbstractPrimary Health Care (PHC) is the gateway for patients in the Brazilian unified health system (Sistema Único de Saúde—SUS), playing an extremely important role in the identification of potential patients with genetic diseases, and referral to specialized and tertiary health services. The PHC is composed of a multidisciplinary team, including the Community Health Agent, who is in direct contact with the community. To implement an educational program aimed at community health agents working in several municipalities in the state of Rio Grande do Sul (RS), Brazil. The training was focused on genetic diseases in gen...
Source: Journal of Community Genetics - December 20, 2023 Category: Genetics & Stem Cells Source Type: research
