Journal Of Community Genetics[JOURNAL]
Sun
200 papers
Polygenic risk scores (PRS) in society. Healthcare providers and researchers' views on the public health and socio-cultural implications of PRS in healthcare contexts.
Andreoli L, Peeters H, Van Steen K … +1 more , Dierickx K
J Community Genet · 2026 May · PMID 42189437 · Full text
Polygenic risk scores (PRS) are increasingly positioned as precision public health tools, yet their societal implications remain contested. This study explores how healthcare providers and researchers in Europe view the...
Polygenic risk scores (PRS) are increasingly positioned as precision public health tools, yet their societal implications remain contested. This study explores how healthcare providers and researchers in Europe view the broader social, cultural, and public health dimensions of PRS, beyond their clinical utility. We conducted 26 semi-structured interviews with professionals in diverse medical and research fields. Transcripts were thematically analysed to identify recurring patterns of meaning. Participants' perspectives were organized into six themes addressing: the societal implications of using PRS to inform public health prevention programs and institutional responsibilities with regard to the social determinants of diseases; equity concerns, including transferability across populations, fair distribution of benefits, and access disparities; the socio-cultural narratives-and political implications- of the shift from diagnosis to prediction in genomic medicine; ethical challenges in direct-to-consumer PRS, particularly regarding responsibility and regulation; structural barriers hindering clinical use and implementation; the need for normative frameworks guiding ethical oversight. Our findings highlight that PRS in society carry implicit assumptions about risk, responsibility, and the cultural and institutional values that shape their use and impact. While PRS may inform public health strategies, their promise to improve population health is contingent upon approaches that are ethically sensitive, attentive to societal and institutional contexts, and aligned with the specific objectives they are intended to serve within public healthcare systems.
Which religious and personal characteristics predict attitudes toward gene editing? Findings from a survey of 4,939 adults in the U.S.
Solomon ED, Chin EG, Baldwin K … +2 more , Baker LL, DuBois JM
J Community Genet · 2026 May · PMID 42151625 · Full text
We explored whether major religious groups' attitudes toward gene editing differ, as well as what specific religious and personal characteristics predict attitudes toward gene editing. We administered a survey to a sampl...
We explored whether major religious groups' attitudes toward gene editing differ, as well as what specific religious and personal characteristics predict attitudes toward gene editing. We administered a survey to a sample of U.S. adults (N = 4939), including stratified samples of nine major religious and non-religious groups. We assessed participants' religious affiliation, beliefs, and practices, and their attitudes (i.e., support and concerns) toward gene editing. Participants generally supported gene editing but also reported moderate levels of concerns. Atheist participants reported the highest support, while Mainline Protestants reported the lowest. Muslim participants reported the highest concerns, while atheist participants reported the lowest. Views on evolution and the healthcare values of their spiritual community predicted support, while views on evolution, beliefs that one's body is a manifestation of God, and religious discrimination predicted concerns. The strongest predictors of attitudes were distrust and genetic knowledge, with higher genetic knowledge predicting lower support. While religious affiliation predicts attitudes toward gene editing, generalizations must be avoided given the range of attitudes within each group. Additionally, education alone is unlikely to increase support for gene editing. Fostering trust among religious groups is essential to ensuring that their decisions reflect their values and priorities, rather than being driven by distrust of the healthcare system. Better understanding religion's impact on attitudes toward gene editing may facilitate appropriate genetic counseling and inform policymaking efforts.
Health literacy and prenatal screening acceptability for hemoglobinopathies in Tunisia: a pilot mediation study.
Maaoui F, Saad NB, Zarrouk E … +3 more , Mahjoub S, Menif S, Moumni I
J Community Genet · 2026 May · PMID 42149388 · Full text
Hemoglobinopathies remain a major public health concern in Tunisia. Effective prevention depends on informed prenatal screening, yet the role of health literacy in screening acceptability is poorly documented in North Af...
Hemoglobinopathies remain a major public health concern in Tunisia. Effective prevention depends on informed prenatal screening, yet the role of health literacy in screening acceptability is poorly documented in North Africa. This pilot study developed and culturally adapted a 9-item health literacy questionnaire based on Nutbeam's multidimensional framework and examined its direct and indirect associations, via perceived understanding, with screening acceptability. A cross-sectional pilot study was conducted at the national referral maternity center CHU La Rabta in Tunis with 256 pregnant women aged 18-49 years. The questionnaire was rigorously adapted to Tunisian Arabic dialect through forward-back translation and cognitive debriefing with five pregnant women. Health literacy was assessed using functional, interactive, and critical subscales (1-4 Likert scale). Screening acceptability and perceived understanding to decide were also measured. Data was analyzed with descriptive statistics, reliability testing (Cronbach's α), Spearman correlations, and bootstrapped mediation analysis. Mean global health literacy was 2.70 ± 0.77 (59.8% in the "high" category). The 9-item scale showed good reliability (Cronbach's α = 0.826). Interactive literacy scored highest (2.95 ± 0.92), while functional (2.58 ± 0.93) and critical (2.56 ± 1.00) dimensions were lower. The analysis revealed associations consistent with partial mediation: higher health literacy was associated with screening acceptability both directly (c' = 0.438, p = 0.042) and indirectly through perceived understanding (indirect effect = 0.314, 95% CI 0.128-0.562, p < 0.001), accounting for 41.8% of the total effect. After adjustment for age, education, and residence, global health literacy remained independently associated with screening acceptability (adjusted OR = 1.55, p = 0.041). A brief, culturally adapted health literacy tool proved feasible and reliable in the Tunisian prenatal context. Higher health literacy was associated with greater screening acceptability both directly and indirectly through improved perceived understanding. These findings provide a strong empirical basis for integrating health literacy assessment and targeted literacy-enhancing interventions into Tunisia's national hemoglobinopathy prevention program.
In their own words: a qualitative exploration of patients' perspectives of genetic counseling sessions across clinical disciplines.
Peifer L, Zierhut HA, Cragun D … +4 more , Maresca TJ, Fisher ER, Pratt R, Redlinger-Grosse K
J Community Genet · 2026 May · PMID 42141341 · Full text
Genetic counselors (GCs) help individuals navigate living with genetic conditions via models of practice that emphasize GC-defined processes and outcomes. While quantitative, patient-reported measures have assessed patie...
Genetic counselors (GCs) help individuals navigate living with genetic conditions via models of practice that emphasize GC-defined processes and outcomes. While quantitative, patient-reported measures have assessed patients' experiences and outcomes, there are limited qualitative studies that explore patient-reported impressions of genetic counseling in their own voice. A subset of genetic counseling patients enrolled in the Genetic Counseling Processes Result in Outcomes (GC-PRO) study completed a semi-structured phone or video interview within 1-2 weeks of their genetic counseling session. Transcripts (n = 25) were purposefully sampled from different clinic locations (three institutions), specialties (prenatal, cancer, cardiology, general genetics), participant responses to quantitative surveys, and demographics. A constructivist approach via reflexive thematic analysis identified five themes about the patient experience with GC behaviors and outcomes: (1) Follow my lead; (2) Working collaboratively over time; (3) We value information; (4) GC expertise and caring demeanor are unique; and (5) I left with takeaways. Patients identified the importance of GC behaviors that fostered a patient-led, collaborative session where informational and supportive needs were met in a tailored manner. Clear information-giving from a knowledgeable GC was consistently perceived to be valuable. Participants typically did not enter a session with a predetermined outcome, yet they later identified emotional impacts, gaining new perspectives about genetic information, and feeling empowered by actionable recommendations as outcomes. This research adds to the literature on patient-defined outcomes and perspectives on counseling processes which at times differ from classical provider definitions and serves to support additions to the current models of practice.
Analyzing readability and suitability of webpages related to genetic counseling and genetic testing.
Charnego M, Durst A, Felter E … +2 more , Munro C, Martuscelli A
J Community Genet · 2026 May · PMID 42128981 · Full text
Patients who are referred for genetic counseling and/or genetic testing may conduct web searches to try to gather more information prior to their appointment. However, little is known about the reading level of such reso...
Patients who are referred for genetic counseling and/or genetic testing may conduct web searches to try to gather more information prior to their appointment. However, little is known about the reading level of such resources or the suitability of the information they provide. This study aims to determine the readability and suitability of top-ranked webpages after general searches about genetic counseling and if there is a difference in these metrics depending on which type of organization (i.e., government, non-profit) authored the webpage. Twenty webpages were identified using Google. Searches of the questions "What is a genetic counselor?", "What is genetic testing?", "Why do I need genetic testing?", and "What happens at a genetic counseling appointment?" were completed and the top 5 pages were taken from each. These webpages were then analyzed using the readability tools of Flesch-Kincaid (FK) and Standardized Measure of Gobbledygook (SMOG). Both FK and SMOG provide an assessment of readability based on grade level with the goal of this study to find resources under grade level 8. Additionally, the webpages were analyzed using the Suitability Assessment of Materials (SAM) on 6 categories. To complete the SAM analysis, two reviewers completed the tool for each webpage. Sponsor type was determined based on the primary goal of the group that supported or published the webpage. When comparing between questions, the average FK scores for the webpages were between 8th and 12th grade and the average SMOG scores were between 11th and 14th grade. Most webpages rated as adequate on the SAM scale. The results of this study highlight the continued need for evaluation of patient resources, especially those on the internet, to ensure they are meeting the needs of the rising number of individuals being referred to genetic services.
Learning about the genetic risk in my family: Preferences of Italian nurses.
Godino L, Battistuzzi L, Turchetti D … +4 more , Varesco L, Gentili V, Chiari P, Palese A
J Community Genet · 2026 May · PMID 42113295 · Full text
This study explores Italian nurses' preferences and views regarding the disclosure and sharing of genetic risk information within families, focusing on their genetic literacy and responsibility, and comparing these persp...
This study explores Italian nurses' preferences and views regarding the disclosure and sharing of genetic risk information within families, focusing on their genetic literacy and responsibility, and comparing these perspectives with laypeople. A nested cross-sectional online survey, originally designed for the general population, included three hypothetical scenarios of inherited genetic risk (Cystic Fibrosis, Hereditary Cancer Syndromes, and early-onset Alzheimer's disease) and items assessing genetic literacy (awareness), family cohesion, disclosure preferences, and responsibility. Quantitative data were analyzed descriptively and inferentially, and qualitative responses were analyzed inductively using Reflexive Thematic Analysis. Among the 1,302 respondents, 501 were healthcare professionals (HCPs), including 315 nurses. Their genetic literacy was modest (mean 2.5/4), higher than laypeople's, with no differences by age or education. Nearly all (94.9%) wished to be informed of genetic risk for at least one condition, with 75.9% preferring to be informed for all three, similar to laypeople (78.1%). Most (97.8%) would undergo genetic testing if informed (95.6% of laypeople). Responsibility for disclosure was viewed as shared between relatives and HCPs (39.1%) or by everyone involved (themselves, relatives and HCPs) (25.1%), echoing laypeople's views. Qualitative findings from the few who did not wish to be informed (n = 16) emphasized anxiety, psychological self-protection, and scepticism toward predictive medicine, similar to laypeople. Italian nurses expressed views and preferences similar to laypeople. While they valued receiving genetic risk information and HCP involvement in family communication, limited familiarity with clinical applications of genetic testing highlights a gap in nursing education and practice, with implications for targeted training.
Social stigma, genetic services, and South Africa: is testing taboo?
Sent CC, Pearce B
J Community Genet · 2026 May · PMID 42101713 · Full text
Genetic testing and counselling are invaluable tools for preventative and personalised care. Unfortunately, utilisation of these services in South Africa, and continental Africa more broadly, has been limited. South Afri...
Genetic testing and counselling are invaluable tools for preventative and personalised care. Unfortunately, utilisation of these services in South Africa, and continental Africa more broadly, has been limited. South Africa, which suffers from a unique epidemiological state, offers these genetic services, but accessibility is limited, as is education around this topic. Furthermore, coupled with the previous limitations, there is a prevalent distrust of the healthcare system and the stakeholders involved therein. This is largely due to the sociopolitical history of the country, which has resulted in severe economic inequalities and racial marginalisation of majority population groups. To effectively reduce the disease burden that South Africa is currently experiencing, it is necessary to increase the accessibility and uptake of these services, particularly genetic testing. While geographic and financial barriers could be tackled governmentally, other barriers, such as stigma towards genetic testing, Westernised medicine in general, and those that provide it, need to be investigated before investing valuable resources into infrastructure. Understanding these barriers would provide critical insight into the demand for genetic testing and how uptake and motivation could be improved. This narrative review discusses potential barriers to uptake and consumer demand in South Africa, and concludes by tying all identified barriers into an overarching concern regarding stigma (particularly intersectional stigma) related to genetic testing in a South African context. By doing so, we identify several key information gaps that future research could fill.
How parents and community care professionals use a genetic diagnosis to inform care: expanding the concept of utility.
Lemke AA, McNamara KC, Cadigan RJ … +6 more , Ponsaran R, Goldenberg AJ, Rich CA, Finnila CR, Cooper GM, Brothers KB
J Community Genet · 2026 May · PMID 42091778 · Full text
Research on genomic testing outcomes for children with neurodevelopmental conditions often emphasizes clinical and personal utility, but rarely considers how a genomic diagnosis impacts care from non-physician community-...
Research on genomic testing outcomes for children with neurodevelopmental conditions often emphasizes clinical and personal utility, but rarely considers how a genomic diagnosis impacts care from non-physician community-based professionals such as those in private practice, early intervention, or school settings. Therefore, this study explored how caregivers and community care professionals use a genomic diagnosis to inform care. Semi-structured interviews were conducted with 23 caregivers of children with a genomic diagnosis and 30 community care professionals providing care to the child. Directed and summative content analysis was performed. Reported impacts included (1) improved care provision, (2) informed future planning, (3) enhanced social and community support, (4) enhanced understanding, (5) increased access to therapy-related services and equipment, (6) improved service quality and 5) elevated patient advocacy and engagement. Potential disutility arose from limited diagnostic information, provider knowledge gaps, insurance denials, and provider fear of treating rare conditions. A key neutral/mixed finding was that the diagnosis did not always impact care. Barriers to potential utility included financial burden, confusion about next steps, provider knowledge gaps, and lack of evidence-based guidance for rare diagnoses. Findings highlight that caregivers and community professionals may experience impacts from a genomic diagnosis (positive, negative, or neutral) that are understudied in empirical research, potentially because traditional concepts of utility fail to incorporate these domains. Broadening this conceptual framing could inform empirical research focused on identifying these effects and informing potential interventions. Further work is needed to characterize and quantify genomic test utility and disutility across diverse contexts.
Knowledge and perceptions of pharmacogenomics and personalized medicine among pharmacy students in Gujarat: a cross-sectional survey.
Maheriya B, Thummar K, Chauhan S
J Community Genet · 2026 May · PMID 42080951 · Full text
Pharmacogenomics (PGx) plays an important role in personalized medicine by explaining genetic variability in drug response and enabling personalized therapy. Although global efforts have integrated PGx into pharmacy curr...
Pharmacogenomics (PGx) plays an important role in personalized medicine by explaining genetic variability in drug response and enabling personalized therapy. Although global efforts have integrated PGx into pharmacy curriculum, in India structured education and training regarding PGx still remain limited. Understanding pharmacy students' knowledge, perceptions, and attitudes toward PGx is essential for preparing the future workforce for clinical application in healthcare area. A cross-sectional questionnaire-based survey was conducted among undergraduate and postgraduate pharmacy students at the School of Pharmacy, Gujarat Technological University, Gandhinagar, India, in July 2025. Participants were recruited using a convenience sampling approach, and the survey was administered online via google form using a structured and validated questionnaire. The instrument assessed demographic characteristics, knowledge of pharmacogenomics, attitudes toward its clinical application, and sources of information. Data were analysed using SPSS version 25. A total of 200 pharmacy students participated in the survey. Most students demonstrated good conceptual knowledge of pharmacogenomics, with 92.5% correctly identifying PGx as the study of gene-drug interactions and 82.5% recognizing its role in reducing adverse drug reactions. However, awareness of practical aspects was limited: only 38.5% were aware of pharmacogenomic guidelines such as CPIC, PharmGKB, FDA labelling, and 29% reported prior formal instruction on pharmacogenomics in their curriculum. Despite these knowledge gaps, students expressed highly positive attitudes toward pharmacogenomics. Correlation analysis showed a weak to moderate positive association between knowledge and attitude scores (r = 0.37, p < 0.01), indicating that higher knowledge levels were associated with more favourable attitudes toward pharmacogenomics. This study showed that pharmacy students of Gujarat has a strong conceptual understanding of pharmacogenomics and recognizing its role in gene-drug interactions and the reduction of adverse drug reactions. However, awareness was limited which strongly indicates a gap between theoretical knowledge and practical application. Overall it highlights both existing knowledge of students and the need to enhance practical applicability of pharmacogenomics for the future integration of personalized medicine into clinical practice.
Meeting the demand: A collaborative approach in developing genetic counselling education in the Nordic countries.
Siglen E, Ylistalo E, Lunde Å … +9 more , Tomasdottir A, Lodahl M, Malmgren CI, Hognason HB, Thorolfsdottir ET, Laaksonen M, Stefansdottir VF, Bjorvatn C, Pestoff R
J Community Genet · 2026 May · PMID 42065822 · Full text
This program report describes the establishment of the Nordic Network for Genetic Counselling (NNGC) and the ongoing work toward developing a joint Nordic MSc in Genetic Counselling and increasing awareness of genetic co...
This program report describes the establishment of the Nordic Network for Genetic Counselling (NNGC) and the ongoing work toward developing a joint Nordic MSc in Genetic Counselling and increasing awareness of genetic counselling in the Nordic countries. Founded officially in 2024, the NNGC brings together universities and university hospitals across the Nordic region and draws on members varied clinical and academic backgrounds. With financial support from NordPlus, the network has built a collaborative framework based on shared responsibility, rotating coordination, and regular digital and in-person meetings. Using the previously EBMG accredited Swedish MSc as a point of reference, the network has a curriculum that aligns with international standards and Nordic priorities related to sustainability, equity, and educational quality. Formal agreements between participating institutions have secured engagement and provided a basis for the development of the master's programme. The learning points from this collaborative work, including key facilitators, identified barriers, and recommendations when pursuing similar initiatives are presented. Although still under development, the planned Nordic MSc, expected to launch in 2027, demonstrates how regional/international collaboration can strengthen specialized education and support the future workforce needs of precision medicine.
Rare diseases in the Turkish-Cypriot community: a nationwide study.
Koyutourk B, Ergoren MC
J Community Genet · 2026 May · PMID 42065819 · Full text
Minor or genetically isolated populations like Turkish-Cypriots (TC) are usually challenging to diagnose and treat for uncommon genetic diseases. TC may exhibit several patterns of unusual genetic disorders based on thei...
Minor or genetically isolated populations like Turkish-Cypriots (TC) are usually challenging to diagnose and treat for uncommon genetic diseases. TC may exhibit several patterns of unusual genetic disorders based on their unique historical and demographic conditions. The objective of the current study is to identify and investigate the rarest genetic disorders in TC patients. Therefore, between 2019 and 2025, clinical and genetic data, which were confirmed by gene panels and exome sequencing, from 150 TC patients were retrospectively analysed in our clinic. Also, inheritance models and variant types were classified and contrasted. Out of 150 patients, 123 different rare diseases were discovered. Observed in 10 cases (6.7%), neurofibromatosis (type 1) was the most common of these, trailed by spinal muscular atrophy in 6 cases (4%), phenylketonuria in 6 cases (4%), and episodic kinesigenic dyskinesia type 1 in 4 cases (2.7%). Importantly, 114 of the discovered diseases (76%) were observed in only one patient, indicating a vast spectrum of ultrarare or single-case conditions within the group. Autosomal dominant was the most prevalent mode of inheritance; other types also present were autosomal recessive and mitochondrial inheritance. The recurrence of particular gene pathogenic variants in a group of patients may suggest a potential founder effect; however, further population-based haplotype studies are required to confirm this hypothesis within the TC population. The results demonstrate an overrepresentation of particular neurogenetic syndromes and underline the necessity of targeted screening procedures and population-dependent databases to maximise diagnostic yield and genetic counselling in this poorly characterised population.
Holistic view of understanding genetic predisposition and perceptions of genomic research in African communities: tradition, trust and transformation.
Ribeiro N, Pearce B
J Community Genet · 2026 Apr · PMID 42045748 · Full text
Genetic research holds immense potential to advance personalised medicine and enhance patient outcomes. However, Africa’s diverse and historically marginalised populations remain significantly underrepresented in these s...
Genetic research holds immense potential to advance personalised medicine and enhance patient outcomes. However, Africa’s diverse and historically marginalised populations remain significantly underrepresented in these studies, thus limiting the relevance and reach of genomic advancements. By examining African communities through an anthropological lens, this narrative review highlights the importance of their lived realities and holistic perspectives on Genetic and Genomic Research (GGR). Beyond advocating for their inclusion, raising the importance of embedding intentional integrated medical practices, culturally sensitive ethical principles and fostering equitable long-term partnerships both locally and globally. These efforts are essential for strengthening healthcare infrastructure and ensuring that the benefits of GGR are shared fairly. Ultimately, fostering authentic participation and sustained trust in scientific research across Africa requires transparent dialogue, inclusive collaboration and a principled commitment to respecting community autonomy, not merely for the advancement of science, but to affirm the sovereignty and long-term interest of African populations.
Family quality of life in the context of Rett syndrome: insights from Brazilian families.
Carlucci NSS, Favilla BP, Nunes BC … +6 more , de Lima FT, Melaragno MI, Pilotto RF, de Avó LRDS, Germano CMR, Melo DG
J Community Genet · 2026 Apr · PMID 42045613 · Full text
Rett syndrome (RTT) is a rare genetic neurodevelopmental disorder characterized by intellectual disability and severe functional impairments, placing a significant burden on affected families. This exploratory cross-sect...
Rett syndrome (RTT) is a rare genetic neurodevelopmental disorder characterized by intellectual disability and severe functional impairments, placing a significant burden on affected families. This exploratory cross-sectional study evaluated family quality of life (FQoL) in Brazilian families of girls with RTT and examined its relationship with sociodemographic and clinical variables. Seventy Brazilian families participated in the study. Data were collected using sociodemographic and clinical questionnaires, the Pediatric Quality of Life Inventory, and the Beach Center Family Quality of Life Scale, which assesses five domains: family interaction, parenting, emotional well-being, physical and material well-being, and disability-related support. The average FQoL score was 3.68 ± 0.67, below the satisfaction threshold (4.0). Emotional well-being had the lowest score (3.16 ± 0.96), significantly lower than other domains (p < 0.001). Overall FQoL was associated with factors such as family income, access to welfare benefits and private health insurance, parental education and employment status, as well as individual characteristics of the person with RTT, including age, aggressiveness, and school type. Taken together, aggressiveness, attendance at a regular school, and a monthly income exceeding four official Brazilian minimum wages explained 29.8% of the variance in FQoL scores. The findings underscore the multifactorial nature of FQoL in the context of developmental disabilities. Improving FQoL for families of individuals with RTT requires integrated strategies that combine emotional support for caregivers, socioeconomic assistance, inclusive education, and medical and psychological care for individuals with RTT. These approaches have direct implications for public policies and service provision in low- and middle-income countries.
Transforming clinical trials in rare genetic diseases through telemedicine.
Crimi M, Bianca S
J Community Genet · 2026 Apr · PMID 42035366 · Full text
Rare genetic diseases present formidable challenges to diagnosis, management, and clinical trials due to their low prevalence, geographic dispersion of patients, protracted diagnostic odysseys, and scarcity of specialize...
Rare genetic diseases present formidable challenges to diagnosis, management, and clinical trials due to their low prevalence, geographic dispersion of patients, protracted diagnostic odysseys, and scarcity of specialized expertise. These factors lead to significant logistical, financial, and emotional burdens on patients and caregivers, often prolonging trial timelines and limiting participant pools. Telemedicine offers transformative solutions by bridging geographical distances and disseminating specialized knowledge. It encompasses traditional approaches like video conferencing, digital health technologies for remote monitoring using mHealth and wearables and enables Decentralized Clinical Trials, significantly enhancing patient access and accelerating recruitment. European Reference Networks, utilizing the Clinical Patient Management System, facilitate cross-border expert collaboration and knowledge sharing for complex cases. Telegenetics democratizes access to genetic counseling and diagnostic services, while digital platforms provide crucial information and educational resources, fostering patient empowerment and self-management. The integration of Real-World Evidence from wearables and IoT devices, combined with advanced analytics like AI/ML, provides objective and continuous data, supporting regulatory decisions. Despite these benefits, challenges remain, including the inability to perform comprehensive physical examinations remotely, concerns about diagnostic accuracy, the digital divide and user adherence, and the lack of harmonized regulatory and policy frameworks across borders. Ethical considerations, data security, and the need for robust evidence and validated remote outcome measures are also critical. The consensus points towards a hybrid model of care and research, strategically combining telemedicine with essential in-person interactions. Future directions include rigorously evaluating clinical outcomes of telemedicine, developing user-friendly and validated technologies, harmonizing international policies, investing in digital literacy, and fostering coordinated collective intelligence networks to maximize patient knowledge capital and accelerate therapeutic development.
The law on voluntary termination of pregnancy in Argentina: impact on the epidemiological situation of congenital anomalies and prenatal diagnostic health services.
Barbero P, Brun P, Groisman B … +4 more , Bidondo MP, Aiello H, Trotta M, Liascovich R
J Community Genet · 2026 Apr · PMID 42029808 · Full text
Congenital anomalies (CA) can be detected prenatally through imaging and specialized procedures. On December 30, 2020, Argentina passed the Termination of pregnancy (TOP) law. This study assesses the impact of this legis...
Congenital anomalies (CA) can be detected prenatally through imaging and specialized procedures. On December 30, 2020, Argentina passed the Termination of pregnancy (TOP) law. This study assesses the impact of this legislation on the epidemiological profile of CA, in relation to access to prenatal diagnosis and the practice of legal termination of pregnancy due to fetal anomalies. A before-and-after study design was used, comparing two three-year periods: 2015–2017 and 2021–2023, using data from the National Network of Congenital Anomalies of Argentina (RENAC). A survey was also conducted among obstetric and prenatal diagnosis professionals from 70 maternity hospitals. In the second period, a significant decrease was observed in the prevalence of anencephaly, hydrocephalus, Down syndrome, and disruptive anomalies. The percentage of hospitals performing prenatal procedures (nuchal translucency measurement, first trimester screening, detailed ultrasound, and karyotyping) increased. While 51% of the institutions reported performing legal terminations in the first trimester for fetal anomalies in the first period, this rose to 87.1% in the second. The decline in major nervous system anomalies is likely associated with greater access to prenatal screening and legal terminations. The decrease in Down syndrome prevalence, despite rising maternal age, may reflect improved prenatal detection and access to TOP. The reduction in disruptive anomalies may be related to a decrease in unsafe, clandestine abortions following the legalization of TOP.
Routes to expanded carrier screening in the UK: The perspectives of professional stakeholders.
Herbrand C, Fearon K, Borry P … +6 more , Culley L, Hudson N, Miedzybrodzka Z, Norcross S, Parry B, Van Steijvoort E
J Community Genet · 2026 Apr · PMID 42014543 · Full text
Expanded carrier screening (ECS) is a genetic test, increasingly used before conception, to assess prospective parents’ risk of transmitting autosomal recessive and X-linked pathogenic genetic variants to future children...
Expanded carrier screening (ECS) is a genetic test, increasingly used before conception, to assess prospective parents’ risk of transmitting autosomal recessive and X-linked pathogenic genetic variants to future children. This paper is the first to describe the distinct coexisting routes to ECS in the UK, and to consider key professional stakeholders’ perspectives on the usefulness, advantages and challenges of these distinctive routes in a national context where ECS is almost exclusively available commercially with little regulatory oversight. Data are based on an extensive systematic search and mapping of ECS providers offering tests in the UK, and interviews with 38 stakeholders involved in the practice, provision, or governance of genomic reproductive technologies in the UK. This study identifies and describes three distinct, parallel routes through which ECS is taken up: unassisted conception, assisted conception (with couple’s own gametes), and assisted conception using donated gametes. We found that these routes served very different needs for clinicians, and identified inconsistency across the routes, with significant variations in cost, access, panel composition, and levels of support for test takers, especially in direct-to-consumer testing. These challenges are compounded by the absence of clear regulatory oversight. Findings suggest that ECS should not be treated as a single, uniform practice. Rather, its framing, implementation and perceived value must be understood in relation to the specific institutional, clinical, and social contexts in which it is situated. This contextual understanding is particularly important for informing the regulation and guidance of the distinct ECS offerings.
Sociodemographic characteristics and healthcare-seeking behaviour of patients with sickle cell disease: a cross-sectional study across five tribal districts in India.
Sridevi P, Anil I, Sarmah J … +6 more , Bal M, Surti SB, Bhat D, Ranjit M, Sharma Y, Babu BV
J Community Genet · 2026 Apr · PMID 41964744 · Full text
Sickle 2007cell disease (SCD) is an inherited chronic blood disorder, with symptoms including anaemia, recurrent pain episodes and long-term organ damage. Approximately 1.2 million people in India are affected. Understan...
Sickle 2007cell disease (SCD) is an inherited chronic blood disorder, with symptoms including anaemia, recurrent pain episodes and long-term organ damage. Approximately 1.2 million people in India are affected. Understanding the sociodemographic profile and health-seeking behaviour of individuals with SCD is essential for designing and implementing patient-centred care strategies. This study reports socio-demographic characteristics, living conditions and patterns of healthcare utilisation among individuals diagnosed with SCD in five tribal-dominant and underserved districts of India. Data were collected from 261 individuals diagnosed with SCD using a pretested, structured questionnaire administered through face-to-face interviews. Most participants (74%) learned about their SCD status through the public healthcare staff. A majority reported seeking care at primary or community health centres (69.7%), with smaller proportions attending tertiary-level government facilities (19.2%) and private hospitals (8%). A few participants (3.1%) have not sought treatment. Care-seeking behaviours in SCD vary across socioeconomic factors, including education, occupation, household income, housing type, health insurance coverage, and awareness levels, as reported in previous studies. These insights underscore the need for tailored interventions that address both healthcare access and the underlying healthcare-seeking barriers among the affected populations.
Genetic disorders and congenital anomalies in Nigeria: a scoping review.
Babalola AD, Muniz NF, Schuler-Faccini L
J Community Genet · 2026 Apr · PMID 41951986 · Full text
Nigeria, with its rich cultural and genetic diversity, faces a largely undocumented burden of genetic disorders and congenital anomalies. Understanding this burden is vital for effective healthcare planning and intervent...
Nigeria, with its rich cultural and genetic diversity, faces a largely undocumented burden of genetic disorders and congenital anomalies. Understanding this burden is vital for effective healthcare planning and interventions. The aim of this study was to provide a comprehensive overview of the prevalence and geographical distribution of genetic disorders and congenital anomalies in Nigeria based on published evidence. A systematic scoping review was conducted across seven databases using tailored search strategies. Screening was performed in two stages: (1) title and abstract and (2) full text- prior to data extraction and analysis. Prevalence figures were recalculated and standardized as a percentage of live births or individuals. Seventy-eight studies met the inclusion criteria, of which 27 reported at least one genetic disorder. Hemoglobinopathies–particularly sickle cell disease (SCD) and sickle cell traits–were the most frequently reported conditions, with prevalence estimates as high as 61%, underscoring Nigeria’s substantial disease burden. Glucose-6-phosphate dehydrogenase (G6PD) deficiency was also commonly reported, with prevalence reaching up to 60% in some populations. Congenital anomalies involving the central nervous system, musculoskeletal system, cardiovascular system, and genitourinary tract were frequently described, with reported prevalence estimates of up to 13%, 8.8%, 3% and 6.7%, respectively. Geographically, studies were disproportionately concentrated in the southern regions, while northern areas–particularly the Northeast–were markedly underrepresented. Significant regional and condition-specific knowledge gaps persist regarding genetic disorders and congenital anomalies in Nigeria, especially in the North. Strengthening surveillance systems, expanding regionally representative research, and implementing targeted public health interventions are critical to inform equitable healthcare planning and reduce disease burden.
Integrating genetic ancestry into clinical care: Accuracy, utility, and stakeholder views.
Prettyman J, Hoffmann TJ, Biswas S … +1 more , Rajkovic A
J Community Genet · 2026 Apr · PMID 41920385 · Full text
How to integrate genetic ancestry into clinical care remains unsettled. We assessed (i) agreement between two commercial ancestry providers, (ii) concordance between multiple ancestry algorithms and self‑identified race/...
How to integrate genetic ancestry into clinical care remains unsettled. We assessed (i) agreement between two commercial ancestry providers, (ii) concordance between multiple ancestry algorithms and self‑identified race/ethnicity (SIRE) recorded in the electronic health record (EHR), and (iii) participant perspectives on accuracy, clinical utility, discrimination risk, and EHR integration. Using data from 451 adults in the UCSF 3D Health Study, we harmonized ancestry outputs to five continental categories and quantified cross‑provider agreement and ancestry–SIRE concordance at ≥ 50%, ≥ 75%, and ≥ 90% thresholds; we also analyzed survey responses from 166 participants. Mean agreement between the two commercial providers was 58.4% overall (95% BCa CI: 57.4–59.4%), differing by ancestry: 54.7% European, 73.1% Asian, 57.6% Mixed American, and 76.2% African (overall p = 3.2 × 10⁻²⁰). At ≥ 90% concordance with SIRE, algorithms varied substantially: 2.6% for Ancestry 1 (11/428), 80.1% for Ancestry 2 (353/441), 88.0% for Ancestry 3 (388/441), and 89.3% for Ancestry 4 (394/441). When stratified by SIRE group, European and Asian participants showed consistently high concordance for Ancestries 2–4, while African and Mixed American subgroups showed lower and more variable concordance across all methods. Surveyed participants were largely nondistressed (only 1.2% reported distress); 51.2% agreed ancestry reports are accurate and 50.0% agreed ancestry could support more personalized care, while 52.4% anticipated discrimination. Opinions on storing ancestry in the EHR were mixed (agree: 38.6%; disagree: 30.1%; neutral: 28.9%). Findings show vendor/algorithm choice strongly shapes ancestry outputs and alignment with SIRE. Community genetics programs should avoid treating ancestry as a proxy for race, adopt vendor‑aware workflows, and implement transparent consent and safeguards before linking ancestry to the EHR.
Expanding beyond the exome: identifying pediatric patients best suited for genome sequencing.
do Valle DA, de Haro Figueiredo B, Araldi GC … +9 more , Sachetim GPB, Barby IM, Aihara LA, Ferreiro MR, de Andrade FA, Santos MLSF, Zeny MS, de Souza J, Rare Genomes Project Consortium
J Community Genet · 2026 Mar · PMID 41910884 · Full text
OBJECTIVE: This study aimed to compare the diagnostic yield of genome sequencing (GS) versus exome sequencing (ES) in a pediatric population, with a focus on determining whether GS offers a significant advantage over ES...
OBJECTIVE: This study aimed to compare the diagnostic yield of genome sequencing (GS) versus exome sequencing (ES) in a pediatric population, with a focus on determining whether GS offers a significant advantage over ES in identifying genetic variants. METHODS: A retrospective analysis of prospectively allocated pediatric patients was performed on 297 pediatric patients who underwent next-generation sequencing. Of these, 59.6% (177) underwent only ES, 32.3% (96) underwent only GS, and 8.1% (24) had both tests. Diagnostic positivity rates were compared between ES and GS, and subgroup analyses were performed based on clinical characteristics. RESULTS: GS demonstrated a higher positivity rate (51.7%) compared to ES (42.8%), with a 95.8% concordance between tests in patients who underwent both. However, the added diagnostic yield of GS was less than 10%. Greater GS positivity was identified in a group of children with neurological, musculoskeletal, growth disorder and craniofacial anomalies. Deep intronic variants were identified in two cases that underwent GS, but only one had also undergone ES. Limitations in medical record completeness and data quality were noted, which could affect the study’s generalizability. CONCLUSION: GS offered a modest increase in diagnostic yield over ES, particularly for detecting deep intronic variants. Some conditions had greater GS positivity, but the interpretation deserves caution as issues regarding homogeneity and sample selection may have influenced this result.
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