Journal Of Community Genetics[JOURNAL]
Sun
200 papers
Evaluation of readability and understandability of biotinidase deficiency information online.
Enver EÖ, Yılmaz B
J Community Genet · 2025 Nov · PMID 41251928 · Full text
This study evaluates the readability and understandability of online resources on biotinidase deficiency, a metabolic disorder included in newborn screening programs. The aim is to determine whether these materials meet...
This study evaluates the readability and understandability of online resources on biotinidase deficiency, a metabolic disorder included in newborn screening programs. The aim is to determine whether these materials meet health literacy standards. Fifty online documents were initially identified via Google searches using "biotinidase deficiency." After excluding academic articles, duplicates, and inaccessible resources, 21 documents were analyzed. They were categorized as non-profit (hosted on domains such as .org, .gov, or .edu, representing public institutions and academic organizations)(13) or private (hosted on commercial domains like .com, often linked to medical facilities) (8) based on domain extensions. Readability was assessed using Readable.io, providing Flesch Reading Ease scores and Flesch-Kincaid Grade Level. The Patient Education Materials Assessment Tool (PEMAT) was used to evaluate understandability and actionability, with scores averaged by four reviewers. Statistical analyses compared group differences. Private articles showed markedly higher Flesch-Kincaid Grade Level scores, referring to higher reading difficulty, in contrast to non-profit articles (mean ± SD: 13.9 ± 2.2 vs. 10.7 ± 2.0; p = 0.002).There was no statistically significant difference in PEMAT understanding (U) scores between private and non-profit articles (mean ± SD: 52.0 ± 10.5 vs. 42.3 ± 11.4; p = 0.060) or actionability (A) scores (mean ± SD: 29.1 ± 20.0 vs. 13.4 ± 18.0; p = 0.063). Furthermore, articles classified as having lower readability levels (D and E) exhibited markedly reduced actionability scores compared to those with higher readability levels (A to C), indicating a correlation between text complexity and practical use. The recommended health literacy standards for biotinidase deficiency are not met by most online sources. In particular, materials that are difficult to read are less applicable and of limited benefit to parents or caregivers. Given that such readers are expected to take important actions such as conducting screenings or consulting healthcare professionals, the importance of making these materials more appropriate is significant. These findings highlight the importance of patient-centered, clear, and actionable health communication, particularly for conditions identified in newborn screening programmes.
Universal newborn screening for familial hypercholesterolaemia-insights from healthcare professionals in Queensland, Australia.
Bachmeier C, Johnston D, Kostner K … +1 more , Kassianos A
J Community Genet · 2025 Nov · PMID 41251905 · Full text
Background Familial hypercholesterolaemia is a common disorder leading to premature atherosclerotic cardiovascular disease. Despite available treatment options and guideline recommendations for early screening and interv...
Background Familial hypercholesterolaemia is a common disorder leading to premature atherosclerotic cardiovascular disease. Despite available treatment options and guideline recommendations for early screening and intervention, fewer than 10% (1 in 10) of individuals with familial hypercholesterolaemia have been identified. Objective To assess if healthcare providers in Queensland, Australia, support introduction of newborn screening for familial hypercholesterolaemia with a focus on benefits, concerns, barriers, and solutions. Methods A survey consisting of 16 items was conducted. Healthcare providers in Endocrinology, Cardiology, Chemical Pathology, Genetic Pathology, Clinical Genetics, General Practice and Genetic Counselling were invited to participate. Results 69 individuals completed the survey. There was strong support for newborn screening for familial hypercholesterolaemia including via genetic testing. Perceived benefits of genetic testing included early diagnosis, prevention of heart disease, reverse cascade screening, robust screening methodology and family planning. Concerns included access to insurance, technical understanding of genetics, parental anxiety, burden to the healthcare system, genetic discrimination, non-paternity, impact on the psychological health of children, child-parent bonding, and delay from diagnosis to initiation of pharmacotherapy during childhood. Main perceived barriers were cost and burden to the healthcare system, lack of a formal consent process and follow-up pathways. A multidisciplinary approach with appropriate funding, education, a formalized consent process and follow-up pathways with local pilot testing were perceived as important steps to overcome these barriers. Conclusion There was widespread support for newborn screening for familial hypercholesterolaemia in a diverse group of healthcare professionals. Further work is required to address concerns and barriers prior to introduction of newborn screening for familial hypercholesterolaemia.
"Would you want to know?" Questions of utility and responsibility in Italian laypersons' preferences about genetic risk communication.
Godino L, Turchetti D, Battistuzzi L … +5 more , Varesco L, Nardi E, Gentili V, Chiari P, Palese A
J Community Genet · 2025 Nov · PMID 41251891 · Full text
We surveyed the preferences of Italian laypersons (n = 609) regarding the communication of genetic risk information to and within families, presenting scenarios about three genetic conditions (Cystic Fibrosis, CF; Heredi...
We surveyed the preferences of Italian laypersons (n = 609) regarding the communication of genetic risk information to and within families, presenting scenarios about three genetic conditions (Cystic Fibrosis, CF; Hereditary Cancer, HC; and early-onset Alzheimer's disease, AD). We found that almost all of the participants (565/609, 93%) were interested in receiving genetic risk information about at least one of the diseases, and 95% of these also stated they would have genetic testing. Interestingly, 78% of participants in this subset wanted to be informed of their genetic risk and have testing for all the genetic conditions presented in the survey. The main motivating factors were prevention for HC, reproductive responsibility for CF, and life-planning and emotional preparedness for AD, covering a range of elements of clinical, health-related and personal utility. In addition, over a third of our study participants (198/565, 35.0%) indicated that both family members and healthcare professionals are morally responsible for communicating genetic risk information; over a fourth (148/565 26.2%) felt that the responsibility lies with everyone involved: family members, healthcare professionals and also themselves. Findings indicate that bringing into focus individual needs that go beyond medical care may help improve communication about genetic risk and informed choices about genetic testing. Moreover, the Italian public opinion may be open to the possibility of a proactive role for healthcare professionals in disseminating genetic risk information to family members, particularly within the frame of a collaborative effort.
The impact of genetic counseling on parental risk perception and prevention strategy utilization for type 2 diabetes in at-risk children.
Denton J, Nee M, McGwin G … +1 more , Frickman A
J Community Genet · 2025 Nov · PMID 41251841 · Full text
Family history is a strong risk factor for type 2 diabetes (T2D), but few studies have evaluated if parents with T2D understand their child's risk and appropriate prevention strategies. Genetic counseling is an effective...
Family history is a strong risk factor for type 2 diabetes (T2D), but few studies have evaluated if parents with T2D understand their child's risk and appropriate prevention strategies. Genetic counseling is an effective intervention to communicate risk for multifactorial disease and provide counseling on management and prevention. This prospective, cross-sectional feasibility study evaluates the impact of a genetic counseling intervention on parental risk perception towards T2D, knowledge of prevention strategies, and implementation of prevention strategies for their at-risk children. Thirty-seven parents with T2D and children between 2 and 11 years old were randomized into an intervention (n = 18) or control (n = 19) group. The intervention group received a structured genetic counseling intervention, which included an educational video, personalized risk assessment, and discussion of prevention strategies. Surveys measuring risk perception, knowledge of prevention strategies, patient empowerment, and health behaviors were administered pre-intervention and at one-month post-intervention for both groups. At one-month post-intervention, the intervention group demonstrated a statistically significant increase in risk knowledge (p = 0.0185) and higher engagement in monitoring child-specific dietary behaviors (p = 0.0334) compared to the control group while changes in overall risk perception, knowledge of prevention strategies, and family dietary habits were not significant. This study demonstrates that genetic counseling could be an effective method to increase parental risk knowledge and engagement in child-specific preventive behaviors for T2D. Findings from this study's unique population of diverse parents with young, healthy children who have yet to develop modifiable risk factors for T2D could provide insight for developing targeted prevention programs.
The italian national genomic strategy: current status, challenges, and future perspectives in clinical practice and public health.
Causio FA, Farina S, Maio A … +27 more , Beccia F, Russo L, Baccolini V, Chiara M, Cicchetti A, Colombo GI, Comandé G, Coviello D, De Maria R, Delledonne M, De Vito C, Galeone D, Gasparini P, Horner D, Martinelli G, Marzuillo C, Palazzani L, Pitini E, Sanguinetti M, Scarpa A, Tartaglia M, Tiziano FD, Tonon G, Dallapiccola B, Villari P, Calabrò GE, Boccia S
J Community Genet · 2025 Dec · PMID 41082076 · Full text
This article presents the outcomes of a national initiative aimed at developing a technical document to support the future Italian National Genomic Strategy, carried out from 2021 to 2024 through the collaboration of 14...
This article presents the outcomes of a national initiative aimed at developing a technical document to support the future Italian National Genomic Strategy, carried out from 2021 to 2024 through the collaboration of 14 research institutions. The project was designed to align with major European genomic initiatives, particularly the "1 + Million Genomes" (1 + MG) Declaration and its supporting programs, including Beyond 1 Million Genomes (B1 + MG), the Genomic Data Infrastructure (GDI), and Genome of Europe (GoE). The initiative was structured around 12 National Mirror Groups (NMGs), each addressing a specific domain such as clinical implementation, ethical and legal issues, data governance, health economics, and public engagement. Through expert consensus and coordinated activities, the project produced a comprehensive technical document outlining seven strategic lines and related intervention areas. These include the integration of genomic testing into clinical practice, development of specialized genomic centers, creation of a national genomic data infrastructure, professional training, and public education. The proposed strategy emphasizes equitable access to genomic medicine, the use of health technology assessment to evaluate new technologies, and the importance of citizen engagement and literacy. By fostering collaboration among institutions, healthcare professionals, and the public, the final goal is to position Italy as a leader in genomic medicine and ensure the responsible, effective, and ethical use of genomics in public health and clinical care.
Current landscape of clinical genetics knowledge and attitudes among Non-Geneticist Physicians - the McGill genetics education survey (McGES).
Abdullah-Maklan S, Trakadis Y
J Community Genet · 2025 Dec · PMID 41032227 · Full text
Medical genetics is a rapidly expanding field, and the role of non-geneticist physicians is becoming increasingly important. Our study aimed to understand the attitudes of non-geneticist physicians on implementing clinic...
Medical genetics is a rapidly expanding field, and the role of non-geneticist physicians is becoming increasingly important. Our study aimed to understand the attitudes of non-geneticist physicians on implementing clinical genetics in their practice, as well as the knowledge gaps and other barriers that they face.Our survey consisted of an instructive quiz targeting non-geneticists in North America. Previous studies have focused primarily on general practitioners, but we additionally targeted pediatricians, OBGYNs, internists, neurologists, psychiatrists and oncologists.Most participants (73%) were interested in implementing clinical genetics in their practice, although their confidence in doing so was significantly lower than their reported interest (p < 0.001). 63% of our participants wanted additional education prior to mainstreaming, and 37% wanted more collaboration with clinical geneticists. Knowing when to refer a patient to genetics, being able to consent patients for genetic testing, and understanding genetic test results were areas of interest for our participants. Physicians who had sent more than 10 referrals to genetics in the past 24 months scored 12.5% higher in the knowledge questions than participants who had not sent any genetic referrals (p < 0.001). Family doctors had low scores on questions pertaining to first-line genetic tests, and also had the lowest referral rate to genetics (p < 0.001).This study illustrates how our survey can be used as an educational tool for non-geneticists. Moreover, we propose several ways to bridge the knowledge and confidence gaps identified in our study to support non-geneticist physicians in providing clinical genetics care to their patients.
Genetic and genomic insights of the Comcáac people.
Pérez-González AP, Aguilar-Ordoñez I, Caballero NA … +1 more , Morett E
J Community Genet · 2025 Dec · PMID 41026382 · Full text
The Comcáac (also known as Seri) are an indigenous community from the central coast of the Sonoran Desert in Mexico. Genetic studies conducted on this population since the late 1990s have revealed marked genetic differen...
The Comcáac (also known as Seri) are an indigenous community from the central coast of the Sonoran Desert in Mexico. Genetic studies conducted on this population since the late 1990s have revealed marked genetic differentiation resulting from pronounced genetic drift caused by a historical bottleneck, which is consistent with anthropological and linguistic records. Research has examined allele frequencies and genetic variants associated with cirrhosis risk, pathogen adaptation, forensic markers, vitamin and sugar metabolism, body mass index, immune responses, cytochrome genes, genetic distances with other groups, and migration patterns. While early investigations relied on classical genetic approaches, more recent studies have employed omics technologies, including whole-genome sequencing. Analyses of the Comcáac genome provide valuable insights into the phenotypic traits and medical predispositions of this community.
Factors affecting genetic counseling experiences of foreign residents in Japan: implications for healthcare inclusivity.
Nakasato K, Isono M, Kato K
J Community Genet · 2025 Dec · PMID 41026381 · Full text
The rapid development of genomic medicine and simultaneous global diversification of societies present new and complex challenges for healthcare systems worldwide. Medical professionals are now expected to communicate hi...
The rapid development of genomic medicine and simultaneous global diversification of societies present new and complex challenges for healthcare systems worldwide. Medical professionals are now expected to communicate highly complex and evolving genetic information while simultaneously addressing the diverse linguistic, cultural, and social needs of their patient populations. At the center of this effort is the genetic counselor, who must navigate cultural perceptions of genetics, varying levels of health literacy, language barriers, and socioeconomic disparities to deliver equitable and effective care. Research in this area is expanding. However, its global distribution remains uneven and disproportionately concentrated in certain regions. In Japan, where many sectors of society are not yet fully equipped to meet the needs of its increasing migrant population, i.e., foreign residents, research describing the factors that impact their genetic counseling experiences is scarce. To fill this gap, we conducted semi-structured qualitative interviews with ten individuals who have had genetic counseling in Japan for prenatal diagnosis/screening, hereditary cancer, or hereditary monogenic disease. Thematic analysis revealed five factors that impacted their experience with genetic counseling: (1) Japanese language proficiency, (2) genetic literacy, (3) digital health literacy, (4) global family connections, and (5) interactions with medical professionals. These findings not only provide nuance to existing literature but also suggest areas of improvement for the cultural competence training of genetic counselors in Japan and point towards the need for guiding resources at the international level.
Genetics services in Latin America: a descriptive study of availability and utilization of genetics in healthcare.
German RJ, Atkinson E, Storch EA … +4 more , Soler-Alfonso C, Margarit S, Lupo PJ, Pereira S
J Community Genet · 2025 Dec · PMID 41021193 · Full text
Genetic services are expanding globally, but access remains limited in low-resource regions such as Latin America. Understanding current service availability, barriers, and facilitators is critical to guide capacity buil...
Genetic services are expanding globally, but access remains limited in low-resource regions such as Latin America. Understanding current service availability, barriers, and facilitators is critical to guide capacity building and improve patient care. We conducted a cross-sectional survey of healthcare professionals providing genetic services in Latin America. The survey, available in Spanish and English, assessed genetic services, referral patterns, testing availability, barriers, facilitators, and perceived needs. Descriptive statistics summarized quantitative data, and thematic analysis was applied to open-ended responses. Eighty-five respondents from 18 countries reported broad clinical activity across pediatric, cancer, and adult-onset genetic conditions. Commonly ordered tests included karyotype, gene panels, and exome sequencing, with many sending samples abroad. Key barriers included high costs, workforce shortages, and limited clinician familiarity with testing. Facilitators included clinician interest and laboratory partnerships. Respondents emphasized the need for expanded test access, workforce development, and increased training opportunities. Genetic services in Latin America show substantial growth but face persistent barriers. Strengthening local infrastructure, training, and collaborative efforts is essential to improve access, reduce diagnostic delays, and enhance patient outcomes.
From past to progress: a retrospective study on CFTR genetic testing in South Africa.
Walters S, Aldous C, Malherbe H
J Community Genet · 2025 Dec · PMID 40996644 · Full text
Confirming a genetic diagnosis of cystic fibrosis (CF) for clinically affected individuals should be more accessible today, with more laboratories offering testing and improved technologies at lower costs. Instead, diagn...
Confirming a genetic diagnosis of cystic fibrosis (CF) for clinically affected individuals should be more accessible today, with more laboratories offering testing and improved technologies at lower costs. Instead, diagnostic testing for CF has become more complex due to the variety of genetic testing options available for the one known causative gene (CFTR). This article provides an overview of genetic tests currently available for CF in six laboratories in South Africa. Also, it demonstrates the evolution of CF tests used at one private laboratory in the country via a ten-year retrospective study. The findings of this study may serve as a guide for healthcare providers in selecting appropriate testing for CF diagnostic or carrier genetic confirmation. The choice of genetic test and methodology depends on individualised factors such as the ethnic origin of the patient, test availability, advantages and limitations, and cost. The ethnic diversity of South Africa's populations and probable under-reporting of CF in the country make the diagnosis of this relatively common genetic condition complex. The actual burden of CF in South Africa is unknown, and comprehensive genetic testing, with an ongoing compilation of patient data in the South African CF registry, should assist in addressing the genetic diversity of CF-causing variants.
Stakeholder experiences and perspectives of genetic and genomic screening procedures in the Gulf Cooperation Council (GCC) region: a qualitative exploration.
Shaheen S, Ghaly M
J Community Genet · 2025 Dec · PMID 40960674 · Full text
With swift progress in innovative fields like genetics and genomics, the application of genetic and genomic technologies in medicine has surged to unparallel heights, extending into domains traditionally beyond the scope...
With swift progress in innovative fields like genetics and genomics, the application of genetic and genomic technologies in medicine has surged to unparallel heights, extending into domains traditionally beyond the scope of medical applications such as marriage. This phenomenon, known as geneticization, raises complex ethical, legal, and social implications. This study examines the social implications of geneticization in the Gulf Cooperation Council (GCC) countries, where premarital screening (PMS) is mandatory, and large-scale genome programs using Whole Genome Sequencing (WGS) have been underway for several years. Twenty-seven semi-structured, in-depth interviews were conducted with two stakeholder groups: Nine with professionals overseeing genetic and genomic initiatives and eighteen with participants of the PMS procedure. Key themes emerging from professional perspectives included child rights in genetic testing, awareness and knowledge gaps among public as well as professionals involved in counselling, stigmatization of the genetic disorders, and the future of genomics in the region. Insights from PMS participants highlighted the procedure’s impact on individual lives, concerns over privacy and confidentiality, the mandatory nature of the screening procedure, future reproductive plans for at-risk couples, and suggestions for the improvement of the PMS program. The findings offer valuable insights for improving the design and implementation of genetic and genomic screening programs in the region. Collaboration among policymakers, healthcare professionals, and the public is essential to address these challenges and enhance program effectiveness.
Ambiguities faced by parents who received a genetic diagnosis for autistic offspring with intellectual disabilities.
Klitzman R, Bezborodko E, Chung WK … +1 more , Appelbaum PS
J Community Genet · 2025 Dec · PMID 40911257 · Full text
Genetic testing is now routinely recommended for autism and/or intellectual disability (ID), but how parents deal with the uncertainties that may be involved has not been explored. We interviewed 28 parents who had recei...
Genetic testing is now routinely recommended for autism and/or intellectual disability (ID), but how parents deal with the uncertainties that may be involved has not been explored. We interviewed 28 parents who had received results identifying de novo genetic variants responsible for their offspring's autism. Parents faced six broad types of ambiguities concerning: cause of the de novo variant, likelihood of medical manifestations, children's future independence and support needs, availability of future medical benefits/treatments, potential social benefits and potential social harms. These ambiguities prompted anxiety/stress. Parents tried to manage these uncertainties in several ways: focusing on the child's immediate needs, seeking more information, seeking bases of comparison in other children, monitoring for future symptoms (and often enlisting others to do so), seeking metaphors and conceptual frameworks to understand uncertainties, making and accepting trade-offs, and participating in research. Several factors influence these uncertainties and responses, including age/life-stage of the child, psychological factors, concerns about the future of the broader healthcare and insurance systems, potential differences due to geography (e.g., local variations in medical, social and educational services available) and scientific background and literacy. Members of a couple also often perceive and respond to these issues differently. These data, the first to examine the ambiguities that arise when receiving genetic diagnoses for their autistic offspring with ID, reveal the key roles of several social factors and have important implications for future research, education of families, and training and practice of healthcare providers, teachers, social service agencies, policymakers and others.
Correction: Achieving the vision of genomics to improve health for all requires a focus on diversity, equity and inclusion.
Khoury MJ, McBride CM, Cornel MC
J Community Genet · 2025 Dec · PMID 40906296 · Full text
Abstract loading — click title to view on PubMed.
What kind of information is requested by patients and families with genetic disorders? : The analysis of an online patient community in South Korea.
Lee SA, Park S, So MK … +4 more , Chung HS, Kim HS, Kim A, Huh J
J Community Genet · 2025 Dec · PMID 40844583 · Full text
BACKGROUND: Genetic counseling is essential for patients and families with genetic disorders, providing accurate information and supporting informed decisions. However, limited access to counseling services in some count...
BACKGROUND: Genetic counseling is essential for patients and families with genetic disorders, providing accurate information and supporting informed decisions. However, limited access to counseling services in some countries can lead to confusion and anxiety, prompting many to seek information in online communities. This study analyzes user-generated questions from an online community in South Korea to understand the specific information needs of patients and families with genetic disorders. METHODS: This study analyzed 289 questions posted by 122 members on the Naver cafe < All About Genetic Disorders>( https://cafe.naver.com/geneticdx ) between November 27, 2022, and December 23, 2023. Quantitative analysis was performed to identify the types and frequencies of questions, while qualitative analysis examined detailed content. RESULTS: The most frequently requested information was about disease information (28.4%), followed by genetics knowledge (26.6%), genetic testing (26.3%), and other topics (18.7%). Qualitative analysis revealed that patients and families needed detailed information about long-term progression and symptom manifestation. Many expressed confusion and anxiety regarding the meaning of variants of uncertain significance (VUS) in genetic testing results. They sought real-life patient experiences, in-depth professional informations, and wanted to know how to efficiently find accurate information. CONCLUSION: This study demonstrated the importance of providing patients and families with professional and easily understandable information, highlighting the necessity for a well-organized genetic counseling system. To support patients and their families, it is essential to develop patient-friendly online platforms and expand access to genetic counseling services.
Strengthening Medical Genetics and Genomic Medicine in Colombia: Progress, Challenges, and Strategic Opportunities.
Rojas PLP, Mora LM, Rincón JS … +3 more , Montoya IZ, León-Sanabria MC, Urueña-Serrano AM
J Community Genet · 2025 Dec · PMID 40813950 · Full text
Colombia, an upper-middle-income country with over 52 million inhabitants, has made significant progress in consolidating medical genetics as a clinical specialty, with a growing presence in healthcare system, public hea...
Colombia, an upper-middle-income country with over 52 million inhabitants, has made significant progress in consolidating medical genetics as a clinical specialty, with a growing presence in healthcare system, public health and academia. The development of specialized training programs, the establishment of a professional association, and the inclusion of genetic tests and treatments for rare diseases (RDs) within the health system have been key achievements. Birth defects (BD) remain one of the leading causes of infant morbidity and mortality, and alongside RDs, are recognized as public health priorities. Among regulatory milestones, the Newborn Screening (NBS) Law has strengthened early diagnosis efforts. Nevertheless, operational challenges persist, particularly in the nationwide implementation of genetic services, which remain concentrated in urban centers, creating significant gaps in rural areas. While technologies such as next-generation sequencing (NGS) are increasingly available in the private sector, a persistent fragmentation between molecular diagnosis and clinical care limits their impact. Furthermore, interoperability with health information systems is limited, and the country's low density of medical geneticists restricts service availability. The Colombian experience underscores the value of institutional coordination, investment in diagnostic infrastructure, and the active role of patient organizations. Despite existing challenges, regional cooperation within Latin America emerges as a strategic opportunity to strengthen medical genetics and expand access for populations affected by RDs and complex genetic conditions.
Perceptions of sickle cell disease and genetic counseling among single young adults in Tamale, Ghana.
Yussif AK, Osei-Tutu A, Osae-Larbi JA
J Community Genet · 2025 Dec · PMID 40794126 · Full text
Sickle cell disease (SCD) is a significant public health concern in Ghana, where limited awareness of carrier status and persistent misconceptions hinder its prevention and management. In Ghana, approximately 882,490 bab...
Sickle cell disease (SCD) is a significant public health concern in Ghana, where limited awareness of carrier status and persistent misconceptions hinder its prevention and management. In Ghana, approximately 882,490 babies are born annually, and an estimated 2% are affected by SCD. Despite advances in biomedical knowledge and the introduction of genetic counseling, sociocultural and institutional barriers continue to influence perceptions and discussions about the disease. This study employed a qualitative exploratory approach to examine perceptions of SCD and genetic counseling among 23 single young adults (SYAs) without children in Tamale, Northern Ghana. Participants were recruited through convenience and snowball sampling. In-depth interviews were conducted in English between August and September 2023. Interviews were audio-recorded, and demographic information such as age, gender, ethnicity, and educational level was collected. Thematic analysis was used to identify patterns and themes including: (1) Biomedical Understanding and Misconceptions, highlighting accurate knowledge and misinformation shaped by schools, religion, and community narratives; (2) Perceived Realities of Living with SCD, revealing social exclusion, psychological distress, and economic burden; (3) Strategies and Barriers to Reducing Incidence, emphasizing low awareness of genotype testing and weak public health education; and (4) Potential of Genetic Counseling, which, though poorly understood, was viewed as a tool for informed partner selection, emotional preparedness, and financial burden reduction. These findings highlight the need for culturally sensitive public health interventions to reduce SCD incidence in Ghana.
Determinants of perception and willingness to uptake premarital screening test for sickle cell disease among health sciences undergraduate students in Dar es Salaam, Tanzania.
Ndaigeze I, Kabalimu T, Ntabaye M
J Community Genet · 2025 Dec · PMID 40768122 · Full text
Sickle cell disease (SCD) is a significant genetic disorder that imposes a considerable global health burden. The notable prevalence of SCD in Tanzania, coupled with extensive economic, psychological, and social ramifica...
Sickle cell disease (SCD) is a significant genetic disorder that imposes a considerable global health burden. The notable prevalence of SCD in Tanzania, coupled with extensive economic, psychological, and social ramifications, underscores the importance of premarital genetic screening to carriers of the sickle cell trait. This study aimed to assess the determinants of perception and willingness to uptake premarital genotype screening test for sickle cell disease carriers (PMGS) among health sciences undergraduate students in Dar es Salaam, Tanzania. An analytical cross-sectional design was used among 470 undergraduate students selected using a stratified random sampling technique. A structured questionnaire was used to collect data using Google Forms. Data were analyzed using the Statistical Package for the Social Sciences, version 25. Descriptive and inferential statistical analyses were performed. A total of 448 questionnaires were completed and submitted, with a response rate of 95.3%. More than half of the students (57.24%) had a good perception of PMGS, and the majority (92.2%) expressed their intention to participate in PMGS. Respondents who received information from healthcare professionals had a significant association (p = 0.031) with good perception. Most students were willing to participate in the PMGS program. As healthcare students, they are an important group in the development of national screening programs; similar studies in other universities in Tanzania are needed to obtain representative samples of undergraduates nationwide.
Age-specific uptake of non-invasive prenatal tests (NIPT) in Germany: a decision theory-based analysis.
Krawczak M, Eiben B, Sendel S … +5 more , Caliebe A, Henneman L, Glaubitz R, Borth H, Schmidtke J
J Community Genet · 2025 Dec · PMID 40699441 · Full text
Non-invasive prenatal testing (NIPT) for fetal chromosomal aberrations is an important component of healthcare systems worldwide, albeit with varying diagnostic coverage and conditions of use. In Germany, NIPT primarily...
Non-invasive prenatal testing (NIPT) for fetal chromosomal aberrations is an important component of healthcare systems worldwide, albeit with varying diagnostic coverage and conditions of use. In Germany, NIPT primarily focuses on trisomies 21, 18 and 13, for which the test costs are reimbursed by the statutory health insurance after thorough prior counseling. Despite this rather restrictive approach compared to other countries, concerns continue to be raised in Germany that young pregnant women, in particular, who are at a low risk of fetal aneuploidy, may have been overly encouraged to undergo NIPT. However, a decision theory-based analysis of the NIPT uptake figures in Germany suggests that there is currently no evidence that avoiding the birth of a trisomic child is a strong motivation particularly of younger women to take the test. Instead, the nation-wide NIPT uptake figures are exceptionally well in line with the corresponding age-specific prior risks. Notably, no such agreement was found when we considered the Netherlands as an example of a healthcare system where NIPT covers additional chromosomal aberrations without age-dependent risk. Replication of our analysis in other countries will reveal whether a strong consistency between age-specific prior risk and NIPT uptake is unique to Germany, or not.
Achieving the vision of genomics to improve health for all requires a focus on diversity, equity and inclusion.
Khoury MJ, McBride CM, Cornel MC
J Community Genet · 2025 Dec · PMID 40690144 · Full text
Abstract loading — click title to view on PubMed.
Self-assessed knowledge of genomic medicine among non-genetics physicians - results from a nationwide Swedish survey.
Björk J, Friedman M, Nisselle A … +2 more , Soller MJ, Malmgren CI
J Community Genet · 2025 Dec · PMID 40679700 · Full text
Genomic medicine is becoming essential to clinical everyday practice in many medical fields. At the same time ethical, economic and practical challenges impede the mainstreaming of genomic medicine. Previous studies indi...
Genomic medicine is becoming essential to clinical everyday practice in many medical fields. At the same time ethical, economic and practical challenges impede the mainstreaming of genomic medicine. Previous studies indicate that physicians without specific qualifications in genetic medicine may lack sufficient knowledge and/or confidence to efficiently practise genomic medicine. This study used a previously validated survey to investigate Swedish non-genetics physicians’ (n = 133) self-assessed knowledge, education needs and preferred mode of working with genomic medicine. Self-assessed knowledge varied widely between knowledge areas, with about 70% having knowledge in basic concepts and disorders/diseases, to about 35% having knowledge about cascade testing or legal implications. A majority reported that having more knowledge within the field of genomic medicine would change their clinical practice. Only 3% of participants preferred to manage genomic medicine patients fully on their own, while 56% preferred to manage such patients in their own practise but with support from regional genetics services or competence in-house. In contrast, 29% preferred to refer patients directly to regional genetics services. A majority desired more or better access to information material aimed at physicians and/or patients. Answering patterns generally corroborate previous findings from other countries. In summary, Swedish non-genetic physicians report sub-optimal levels of knowledge and desire much support in genomic medicine matters. The results have important implications for the interaction between regional genetics services and non-genetics physicians, as well as for the continuous education necessary to further the mainstreaming of genomic medicine.
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