Journal Of Community Genetics[JOURNAL]
Sun
200 papers
Re-consent practices in biobanks in Japan: current status and stakeholder perspectives.
Terui-Kohbata H, Ueda H, Yoshida M
J Community Genet · 2025 Oct · PMID 40676465 · Full text
Pediatric research in rare diseases relies on sharing biological specimens, clinical data, and analytical information among researchers. Re-consent is essential in longitudinal biobank (BB) research to ensure that pediat...
Pediatric research in rare diseases relies on sharing biological specimens, clinical data, and analytical information among researchers. Re-consent is essential in longitudinal biobank (BB) research to ensure that pediatric participants remain informed and willing to continue. However, the issue of re-consent-obtaining consent once participants reach adulthood-remains a significant ethical concern. This study examined the current practices of re-consent acquisition in Japanese BBs and explores stakeholder opinions regarding genomic data sharing. A survey of 41 BBs revealed that only 25% of those handling pediatric samples obtained re-consent, all via written informed consent. Although 71% of respondents recognized the necessity of re-consent, the methods used to obtain it varied. Stakeholders identified ethical and logistical challenges, including privacy concerns and administrative burden. Various re-consent methods were suggested, with preferences depending on feasibility and ethical considerations. The findings highlight the need for policy discussions to balance data-sharing benefits with participant rights and privacy protection in pediatric genomic research. Determining optimal re-consent methods requires continued stakeholder engagement, including research participants and the public.
Awareness and attitudes of pregnant women about prenatal screening and diagnostic tests from Türkiye.
Kaymak D, Kalaycı T, Sayın GY … +5 more , Karaman B, Başaran S, Çebi C, Başkapan B, Madazlı R
J Community Genet · 2025 Oct · PMID 40668280 · Full text
Prenatal screening and diagnostic tests are complex procedures that have to be conducted within a limited timeframe and require pregnant women to make rapid decisions. This study aimed to evaluate the knowledge and attit...
Prenatal screening and diagnostic tests are complex procedures that have to be conducted within a limited timeframe and require pregnant women to make rapid decisions. This study aimed to evaluate the knowledge and attitude of pregnant women by posing particular questions on screening and diagnostic tests, and to determine the correlation with sociodemographic and obstetric factors. A total of 259 pregnancies were enrolled to evaluate their knowledge of prenatal screening and diagnostic tests. Participants were categorized into groups and were presented with 5-point Likert-type questions. Based on the responses, each question was evaluated individually and scored. The mean age was 29.97 ± 5.63, the mean duration of marriage was 6.06 ± 5 years, and 32.8% of participants had a university degree or above. Among them, 52.1% (135/259) had not undergone prenatal screening tests. The percentage of recommended prenatal diagnostic testing was 37.1% (96/259). Demographic and obstetric characteristics were compared between those who underwent screening tests and those who did not. The percentage of screening tests was higher among employed women and those in consanguineous marriages. A statistically significant correlation was found between participants' consent for diagnostic testing, gestational week, employment status, and the type of screening test administered (p < 0.05). Questionnaire scores were significantly higher in both screened and unscreened groups among those with a university degree or higher. These findings emphasize the importance of informing pregnant women effectively, which may be achieved through a well-organized counseling network.
Empowerment of parents of infants with congenital heart disease after rapid genome sequencing : April 11, 2025, revised June 20, 2025.
Cheney RM, Geddes GC, Fitzgerald-Butt SM
J Community Genet · 2025 Oct · PMID 40658357 · Full text
BACKGROUND: Despite rapid genome sequencing (rGS) being utilized as a first-tier genetic test for infants with congenital heart disease (CHD), little is known about its impact on parental empowerment. METHODS: To address...
BACKGROUND: Despite rapid genome sequencing (rGS) being utilized as a first-tier genetic test for infants with congenital heart disease (CHD), little is known about its impact on parental empowerment. METHODS: To address this gap, parents of infants with CHD (≤ 1 year old at the time of inpatient rGS) were asked to participate in an online survey, which measured empowerment using an adapted version of the Genomic Empowerment Scale (GEmS). The scale consists of four subscales that measure emotional management, meaning making, seeking information and support, and implications and planning surrounding a child's diagnosis. Subscale scores were standardized for comparison and coded as above (+) or below (-) the mean. Based on the standardized score pattern (+/-) in each subscale, an empowerment profile was assigned to each participant. Empowerment profiles were analyzed for trends based on CHD type (left ventricular outflow tract obstruction (LVOTO) vs. non-LVOTO), genetic test result type, and number of genetics visits. RESULTS: The most common empowerment profile was the 'Engaged but Worried Planner' (15/37 = 41%). This empowerment profile was more common in parents of infants with non-LVOTO CHD (73.3%) than those with LVOTO CHD (26.7%). Conversely, there was little difference in empowerment profile type between rGS result type. Parents whose child had ≤ 3 genetics visits displayed the 'Engaged but Worried' profile most often, whereas those with ≥ 4 visits had more even distributions between profiles. CONCLUSION: Understanding empowerment profiles in this population may help guide practitioners to empower parent decision-making, emotional management, and planning for the future of their child.
Utilization of genetics services in the diagnosis of hearing loss in newborns in the state of Ohio.
Barnett CL, Malhotra P, VanHorn A … +4 more , Zaharieva B, Myers J, Riggs WJ, Jordan E
J Community Genet · 2025 Oct · PMID 40632427 · Full text
INTRODUCTION: In 50-60% of confirmed congenital hearing loss (HL) diagnoses, the etiology is genetic. The importance of a genetic evaluation for HL is recognized by several national organizations in the United States. Th...
INTRODUCTION: In 50-60% of confirmed congenital hearing loss (HL) diagnoses, the etiology is genetic. The importance of a genetic evaluation for HL is recognized by several national organizations in the United States. This study aimed to evaluate provider practice patterns, beliefs, and knowledge of the role of genetics in the medical diagnosis of HL and assess parent experience and knowledge regarding the role of genetics in the diagnostic process. METHODS: Two surveys were designed using published guidance on optimal care of newborns with HL. Participants included providers (otolaryngologists (ENT) and audiologists) and parents of a newborn with confirmed HL in the state of Ohio from 2017 to 2018. RESULTS: 95 providers (14 ENT; 81 audiologist) and 39 parent responses were included in the analysis. Only 51% of providers refer for a genetics evaluation (n = 49), and less than 10% order genetic testing (n = 9). However, 96% of providers believe families should be presented with the opportunity to pursue a genetics evaluation. In this study, only 46% (n = 18) of parents reported that they were referred to genetics, and 36% (n = 14) reported that their child had genetic testing for HL. For parentss whose child did not have a genetic evaluation, 53% (n = 17/32) were very likely or likely, 25% (n = 8/32) were unsure, and 22% (n = 7/32) were very unlikely or unlikely to pursue an evaluation. CONCLUSION: There is inconsistent implementation of guideline directed care for genetic services for HL. As opportunities for gene therapies for HL advance, there is a need to expand access to genetic evaluation for HL.
Attitudes of parents of children with rare neurological disorders towards clinical genetic testing.
Salayev K, Guliyeva U, Guliyeva S … +5 more , Kaiyrzhanov R, Aslanova U, Hajiyeva N, Houlden H, Munir K
J Community Genet · 2025 Dec · PMID 40613954 · Full text
To study attitudes among parents of probands with rare pediatric-onset neurological and neurodevelopmental disorders on Clinical Genetic Testing (CGT). We administered an 8-item direct structured questionnaire comprising...
To study attitudes among parents of probands with rare pediatric-onset neurological and neurodevelopmental disorders on Clinical Genetic Testing (CGT). We administered an 8-item direct structured questionnaire comprising statements regarding attitudes on CGT to 101 consenting parents of probands enrolled in the University College London (UCL) Central Asia and Transcaucasia Disease Diversity Project. The probands comprised pediatric-onset diseases that included cerebral palsy, epilepsy, severe physical, language, and intellectual developmental delays, and autism spectrum symptoms in children with rare neurological disorders. We studied correlations between parents' opinions and demographic and clinical characteristics. The majority of parents (82.1-91.9%) agreed on statements reflecting the positive effects of CGT (causal explanation, research support, treatment relevance, recurrence prevention, and family planning). The opinions on the negative effects (discrimination, parental concern, and family conflicts) were less uniform. A higher educational level of parents was negatively correlated with agreement on statements about causal explanation, research support, and family planning (p < 0.05). Individual concurrent symptoms (severe language delay, epilepsy, autism, and microcephaly) correlated with several statements (p < 0.05). Parents showed positive attitudes toward clinical genetic testing. Parents' educational level was the most significant factor influencing their opinions. The spectrum and severity of clinical symptoms may shape the attitudes of the parents toward individual aspects of CGT.
Enhancing care coordination for neurofibromatosis type 1 in primary care: insights and applications for rare diseases.
Evans W, Chauhan J, Imam A … +1 more , Hayward J
J Community Genet · 2025 Dec · PMID 40608210 · Full text
Patients with rare diseases often encounter significant challenges, including poor coordination of healthcare services. The UK Rare Disease Framework emphasizes key priorities such as faster diagnoses, greater awareness...
Patients with rare diseases often encounter significant challenges, including poor coordination of healthcare services. The UK Rare Disease Framework emphasizes key priorities such as faster diagnoses, greater awareness among healthcare professionals, improved care coordination, and better access to specialist care. This National Health Service (NHS) project, based in the North East and Yorkshire Genomic Medicine Service (GMS), aimed to improve care coordination for patients with rare genetic diseases in primary care. The project focused on developing a generic clinical pathway to improve care coordination and transitions of care that could be applied to a range of rare diseases. Additionally, it sought to strengthen the integration between genomic services and primary care, fostering a more cohesive approach to patient management. The project mapped clinical care pathways for two exemplar rare genetic diseases, Achondroplasia and Neurofibromatosis type 1 (NF1), this paper describes the NF1 pathway and broader learning from this project. The pathways focussed on identifying common clinical touchpoints with primary care and transitions between primary and specialty care. Key findings included the identification of gaps in care coordination, particularly during the transition from paediatric to adult services, and the development of a set of principles and a template for mapping other rare diseases. Feedback from a wide range of stakeholders, including clinicians across specialties and patient representatives, informed the refinement of the pathways. This project illustrates a systematic approach to enhancing care coordination for patients with rare genetic diseases through the mapping of clinical pathways and the development of primary care resources. The principles and template created can be adapted for other rare diseases, enabling the development of concise, disease-specific pathways. By prioritizing care coordination and transitions, and engaging a wide range of stakeholders in the process, this approach offers significant potential to improve the management of rare disease patients, especially during the critical transition from paediatric to adult care.
Exploring the role of germline genetic testing in surgical decision making for early-stage invasive breast cancer: insights from a safety-net hospital.
Kommidi V, Kotamraju M, Chakka K … +9 more , Dong S, Badalamenti A, Hall CM, Quinn A, Goff E, Ahn C, Gao A, Farr D, Syed S
J Community Genet · 2025 Dec · PMID 40588655 · Full text
Current guidelines recommend contralateral prophylactic mastectomy (CPM) for women with unilateral breast cancer who have pathogenic/likely pathogenic variants (PV) in high-risk genes, but not for those with variants of...
Current guidelines recommend contralateral prophylactic mastectomy (CPM) for women with unilateral breast cancer who have pathogenic/likely pathogenic variants (PV) in high-risk genes, but not for those with variants of uncertain significance (VUS). However, VUS results can cause significant psychosocial distress, which may influence surgical decision-making. In safety-net settings, concerns about insurance coverage and additional social determinants of health may further impact CPM decisions. This study examines surgical trends among patients with early-stage invasive breast cancer who underwent genetic testing before surgery at a safety-net hospital in Dallas, Texas between 2012-2022. We performed a retrospective chart review of 300 early-stage breast cancer patients referred for genetic counseling, analyzing demographics, tumor characteristics, genetic testing results, and treatment. Descriptive statistics and regression analyses were performed. The cohort included 116 patients without mutations (control), 111 with VUS, and 73 with PV. 86.30% of PV patients, 30.63% of VUS patients, and 18.10% of the control group underwent CPM. Multivariate analysis identified PV (OR 26.35, 95% CI: 10.97-63.29, p < 0.0001), VUS (OR 2.35, 95% CI: 1.16-4.77, p = 0.0175), and age at diagnosis (OR 0.963, 95% CI: 0.934-0.993, p = 0.0168) as independent predictors of CPM. These findings suggest that factors beyond established guidelines may influence surgical decision-making, particularly for patients in safety-net hospital settings, underscoring the need for thorough provider and patient counseling.
Community genetics in Brazil- a 2025 perspective.
Giugliani R, Dain Gandelman Horovitz D
J Community Genet · 2025 Aug · PMID 40586982 · Full text
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Expedited workflow for autism spectrum disorder in a pediatric genetics clinic.
Barton C, Anand G, Hoffman J
J Community Genet · 2025 Dec · PMID 40560470 · Full text
With increasing demand for access to genetic services and the American College of Medical Genetics and Genomics' (ACMG) recommendation that individuals with autism spectrum disorder (ASD) and developmental delay be offer...
With increasing demand for access to genetic services and the American College of Medical Genetics and Genomics' (ACMG) recommendation that individuals with autism spectrum disorder (ASD) and developmental delay be offered genetic evaluation, alternative service models for genetic care are needed to increase efficiency. Web-based tools have enhanced access to clinical genetics content and services, particularly for patients with common referral indications such as ASD. The Boston Medical Center pediatric genetics clinic reports on the creation of an Expedited ASD Genetics Clinic (EAGC) which includes a waiting room questionnaire, educational video, physical examination, and blood work for genetic testing. The educational video, created in English and Spanish, mirrors the genetic testing educational content of a typical genetics visit for ASD. As the EAGC allows for more patients to be seen per clinic session, the number of visits with ICD-10 F84.0 (ASD) increased from 18 patients seen October to December 2022 to 32 patients seen October to December 2023. There was also a significant decrease between the number of days from referral to first offered appointment date for the patients with ASD seen in the EAGC compared to all new patients, regardless of referral reason, seen October to December 2022 ([Formula: see text]). This decreased wait time for an appointment for ASD-related genetic testing increases access to genetics services for this patient population.
The impact of the three major human genome editing reports on the governance landscape.
Conley J, Robinson A, Wilson R … +2 more , Kuczynski K, Henderson G
J Community Genet · 2025 Oct · PMID 40522597 · Full text
In 2018, the scientific community was shocked by news that a rogue scientist’s genome editing of embryos had resulted in the birth of twin girls in China. Three major international reports offering ethical and governance...
In 2018, the scientific community was shocked by news that a rogue scientist’s genome editing of embryos had resulted in the birth of twin girls in China. Three major international reports offering ethical and governance guidance on human genome editing (HGE) (by the National Academies’ and Royal Society’s International Commission, the WHO, and the European Group on Ethics) followed in 2020 and 2021. This paper examines whether and how the publication of these reports has had any discernible impact on the global governance landscape. We compare global laws and regulations before and after the reports’ issuance as well as the evolution of softer forms of governance, including funding standards and scientific norms. Data includes the three reports and interviews with people who participated in drafting them. Our analysis indicates that it is impossible to draw direct causal connections between the reports and subsequent legal reforms. In fact, very little has changed in the global legal landscape since they were issued. However, the reports, as well as the broader governance environment (both hard and soft law) reflect a widely shared set of scientific and moral values that have been evolving over the last decade. In that sense, the reports have played an important role in refining, ratifying, and publicizing those values. The weight accorded to the reports will make it near impossible for the scientific community and its governmental overseers to repudiate those values and will help to ensure that future scientific developments will be evaluated in their light.
The UK National screening committee, the newborn genomes programme, and the ethical conundrum for UK newborn screening.
Rankin SM, Marskell L, Hamad L … +1 more , Machin L
J Community Genet · 2025 Oct · PMID 40498416 · Full text
Countries in the Global North use biochemical tests to screen for at least 20 diseases in newborns, while in the UK, only 10 diseases are screened for. The United Kingdom National Screening Committee (UKNSC) is the entit...
Countries in the Global North use biochemical tests to screen for at least 20 diseases in newborns, while in the UK, only 10 diseases are screened for. The United Kingdom National Screening Committee (UKNSC) is the entity responsible for making recommendations to the government with regards to which conditions should be included in the Newborn Screening (NBS) programme. Examination of the meeting minutes of the UKNSC between 2015 and 2022 revealed that no new diseases were recommended for NBS during this period. If there was no 'effective treatment' for the disease it was rejected for NBS. In 2022, the Newborn Genomes Programme (NGP) was announced; a research study aiming to screen for over 223 rare genetic diseases using whole genome sequencing technology in newborns. While this could lead to a seismic expansion of NBS in the UK, many of the diseases included in the programme are currently considered 'actionable' rather than 'treatable' conditions. This poses an ethical conundrum for the UKNSC, which is involved in both NBS and NGP, given that it has thus far made recommendations against the expansion of the NBS programme using available biochemical assays, contrary to what has been implemented in other countries in the Global North. In this paper, we aim to critically examine the processes and circumstances that have held back the expansion of the NBS programme in the UK, as compared with other countries, focusing on the period 2015-2022, when no new diseases were added to the UK NBS programme, and contrast them with the drivers that have led to the support and funding for the NGP during this same time.
The stigma of seriousness: views of genome editing scientists and policy professionals on defining serious disease.
Waltz M, Flatt MA, Cadigan RJ
J Community Genet · 2025 Oct · PMID 40498415 · Full text
In international policy discussions, "serious disease" is frequently used as a criterion for appropriate uses of human genome editing technology, despite the lingering imprecision of its definition and its potential to s...
In international policy discussions, "serious disease" is frequently used as a criterion for appropriate uses of human genome editing technology, despite the lingering imprecision of its definition and its potential to stigmatize those with genetic conditions. Drawing from interviews conducted with genome editing scientists and members of governance groups attempting to influence policy, our findings provide empirical evidence of the lack of shared definitions of serious disease and highlight challenges of relying on the term. The difficulty in defining serious disease among those influencing the translation of genome editing research points to the need to recognize community context and lived experiences as part of the measurement of seriousness. This is particularly true when considering that for some diseases, the development of therapeutic gene editing may introduce or exacerbate stigma or discrimination for those with the conditions. Including the perceptions of serious disease among those with lived experience of genetic conditions can help guide ethical policies and enable the genome editing community to avoid imposing the views of those in power as to what constitutes serious.
Cystic fibrosis in Vietnam and Southeast Asia: underdiagnosis and genetic spectrum.
Cao-Pham HG, Tran-Le QK, Nguyen-Ho L
J Community Genet · 2025 Jun · PMID 40465100 · Full text
Recent reports confirm that cystic fibrosis (CF) is a global disease. In Asian populations, both the spectrum of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations and the clinical course differ fr...
Recent reports confirm that cystic fibrosis (CF) is a global disease. In Asian populations, both the spectrum of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations and the clinical course differ from those observed in Western populations. Although the recognition of CF is increasing in South Asia, comprehensive data from Southeast Asian countries remain sparse. The underdiagnosis of CF in Southeast Asia is attributed to limited awareness among healthcare professionals and restricted access to sweat chloride testing. Until 2021, CF had not been documented in the indigenous population of Vietnam. This study presents the first three confirmed cases of CF in native Vietnamese individuals. Additionally, a literature review of CF cases reported across Southeast Asia was conducted to provide insights into its prevalence and variations in CFTR mutation profiles within the region. A total of 50 cases were identified, distributed across Malaysia (30 cases), Thailand (8), the Philippines (6), Vietnam (5), and Indonesia (1), revealing a mutation spectrum distinct from that observed in Caucasian populations. The most common mutations included p.Phe508del and p.Ile1295PhefsX32, each found in 11.5% of cases. These findings highlight the need for increased clinical awareness, expanded access to sweat chloride testing, and the establishment of CF centers and regional CF registries to better understand and manage CF in Southeast Asia.
Diagnostic networks for IEM in Brazil: report on 10 years of activity of the LSD Brazil Network, helping Brazil and Latin America to identify patients with lysosomal storage diseases.
Trapp FB, Riegel M, Michelin-Tirelli K … +19 more , da Silva LAL, Iop GD, Bender-Pasetto F, Sebastião FM, da Silva Moraes I, Lopes FF, Dos Santos ORT, da Rosa Pereira F, Silva LP, Luiz AA, da Silva CA, Lucas KDP, Netto ABO, Brasil CS, Leistner S, Brusius-Facchin AC, Deon M, Civallero GES, Giugliani R
J Community Genet · 2025 Aug · PMID 40451956 · Full text
To contribute to the diagnosis of genetic metabolic diseases in Brazil, an innovative model of networks has been set up, aiming to provide information and testing of high-risk patients, free of charge, to doctors and ser...
To contribute to the diagnosis of genetic metabolic diseases in Brazil, an innovative model of networks has been set up, aiming to provide information and testing of high-risk patients, free of charge, to doctors and services from Brazil and other countries. Particularly, our group set up the MPS (mucopolysaccharidoses), IEM (inborn errors of metabolism) and LSD (lysosomal storage diseases) networks. This paper describes the structure, services provided, and results obtained by the LSD Brazil Network (LBN) during its first 10 years of operation.The LBN has a core group that is responsible for the operation, guidance, logistics of sample collection and transportation, as well as test reports and information materials. The diagnostic investigation was performed in several laboratories affiliated to the program, all established in Porto Alegre, Brazil. The first ten years of operation of the LBN (2013-2022) were reviewed in detail. Over 10 years, 26,489 patients were investigated, and 27 LSDs were confirmed in 1,320 patients (4.98%). Comparing the first period of 5 years with the second one, there was a decrease in the number of requests, probably reflecting the impact of the COVID-19 pandemic. Interestingly, the same comparison indicated that there was an increase of 46% in the rate of diagnosis, possibly due to the improved selection of suspected cases. The model developed by the LBN, aiming to increase awareness and to remove barriers to diagnostic tests, suggests that the implementation of reference networks seems to be a suitable alternative to foster the diagnosis of LSDs, especially in developing countries, where resources and facilities are scarce.
Call for neurofibromatosis specialty care clinics in South Carolina.
Washington CC, M De Leon K, Cooley Coleman JA … +2 more , Patterson WG, Lyons MJ
J Community Genet · 2025 Oct · PMID 40448891 · Full text
Grounded in patient input, this study assesses the perceived need for a dedicated multidisciplinary clinic for individuals and families with neurofibromatosis type 1 (NF1) in South Carolina, USA. A 62-question online cro...
Grounded in patient input, this study assesses the perceived need for a dedicated multidisciplinary clinic for individuals and families with neurofibromatosis type 1 (NF1) in South Carolina, USA. A 62-question online cross-sectional survey, available in English and Spanish, was distributed to South Carolina residents over age 18 years who were either adults who do not have NF1 but have children with NF1, adults with NF1 who have children with NF1, and adults with NF1 who do not have children or may have children without NF1, to capture a wide range of experiences. Survey responses were analyzed using descriptive statistics to summarize key findings and chi-squared and Fisher's exact tests for categorical comparisons. Free-text responses were examined by content analysis and evaluated by a second researcher. A total of 52 survey responses were analyzed. 90.4% indicated that a specialty clinic should exist in South Carolina. More than 70% of participants reported adherence to medical advice for NF1 and saw a doctor at least once per year, with children and adults seeing several relevant specialists. Analysis of free text responses revealed that participants perceive limited resources and awareness for NF1 in South Carolina, with 4 key gaps identified in both education and clinical care. Establishing a dedicated, multidisciplinary care center for individuals with NF1 in South Carolina can address 3 out of the 4 clinical care gaps and 1 out of the 4 education gaps identified by the content analysis and is highly supported by participant preference.
Perceptions of family health history in an East Baltimore community.
Pandya Y, Zhu A, Mondell E … +6 more , Choi S, Kim G, Vanos V, Venkatraman S, Galiatsatos P, Bodurtha J
J Community Genet · 2025 Oct · PMID 40447984 · Full text
Knowledge and discussion of family health history (FHH) can allow patients, families, and communities to proactively monitor their health and communicate with providers to identify genetic risk factors and inform clinica...
Knowledge and discussion of family health history (FHH) can allow patients, families, and communities to proactively monitor their health and communicate with providers to identify genetic risk factors and inform clinical decision-making. Under-resourced communities may face barriers in collecting, sharing, and using FHH due to competingpriorities, health literacy, and medical mistrust. We characterized community opinions about FHH in a public Baltimore market.A paper survey was administered during biweekly health fairs at the Northeast Market. The survey assessed participants’ practices of discussing and collecting FHH, knowledge of genetic testing, perception of FHH, and demographics.One hundred and one surveys were collected. 76% of respondents discussed FHH while only 56% collected FHH (p <.05). Logistic regression found that female gender significantly predicts FHH collection (OR = 2.77, 95% CI [1.15, 6.84]). Additionally, higher income was significantly correlated with discussing (OR = 1.59, 95% CI [1.14, 2.37]), collecting (OR = 1.29, 95% CI [1.01, 1.68]), and valuing transmission of FHH from older to younger people (OR = 1.70, 95% CI [1.22, 2.51]). Participants were found to favor obtaining FHH knowledge through intergenerational exchange compared to medical staff or schoolteachers.These findings indicate that promoting FHH warrants equitable strategies to reach all persons across gender, age, and socioeconomics. Having local advocates trained in the significance of FHH (e.g. community health workers) and supporting intergenerational approaches (e.g. older women with younger relatives) may be a consideration to reach such populations. More insight is needed to gain a comprehensive understanding of how FHH is valued by certain demographics and then begin to foster equitable strategies to educate and inform diverse populations on FHH.
Scoping review: the current landscape of NIPT in South Africa.
Labuschagne R, Aldous C, Vorster E … +1 more , Walters S
J Community Genet · 2025 Jun · PMID 40437261 · Full text
Non-invasive prenatal testing (NIPT) analyses cell-free fetal DNA (cffDNA) in maternal blood to screen for trisomies 13, 18, and 21, offering critical insights into common chromosomal aneuploidies without requiring invas...
Non-invasive prenatal testing (NIPT) analyses cell-free fetal DNA (cffDNA) in maternal blood to screen for trisomies 13, 18, and 21, offering critical insights into common chromosomal aneuploidies without requiring invasive procedures. Advances in technology have made NIPT faster, more affordable, and widely accessible in many high-income countries (HICs), where it has been integrated into routine prenatal care. However, in low- and middle-income countries (LMICs), including South Africa (SA), NIPT remains largely inaccessible. It is available only to individuals who can afford out-of-pocket expenses or those with medical aid and high-risk pregnancies, limiting its potential impact on broader public health. This scoping review aimed to examine the current landscape of NIPT in SA and other LMICs, with a focus on identifying key themes, implementation challenges, and gaps in the literature. Thematic analysis was used to synthesise findings across studies. The review followed PRISMA guidelines, where relevant literature was identified through database searches using the Boolean term: (NIPT OR "Non-invasive prenatal screen*" OR "Non-invasive prenatal test*" OR NIPD) AND (South Africa* OR "low-middle income*" OR "LMIC"). Inclusion and exclusion criteria were applied to ensure relevance and quality. Twenty-nine articles were included in the review, and the following key themes were identified: (1) NIPT is a screening, not a diagnostic, test; (2) pre- and post-test genetic counselling is recommended; (3) NIPT is expensive and complex; (4) implementation is challenging; (5) ethical, legal, and social concerns exist; (6) access remains unequal; (7) NIPT reduces the need for invasive testing due to high sensitivity and specificity; (8) NIPT should complement, not replace, first-trimester screening; (9) screening for other genetic conditions may be more relevant in LMICs; and (10) NIPT benefits HIV-positive mothers. Widespread NIPT implementation in SA is constrained by cost, infrastructure, and competing healthcare priorities. While next-generation sequencing (NGS)-based NIPT remains expensive, alternative technologies, such as droplet-based NIPT, may offer a more affordable approach for high-risk pregnancies, reducing reliance on invasive procedures. NIPT holds significant potential to improve prenatal care in SA. However, its current inaccessibility within the public sector and among underserved populations underscores critical gaps in equity, implementation, and broader prenatal screening practices, which remain inadequate across much of the country. A locally validated, cost-effective alternative such as droplet digital PCR-based NIPT (ddNIPT) could help bridge this divide and make advanced screening more accessible and sustainable. Future research must prioritise validating such alternatives within the South African context. Ensuring equitable access to NIPT is essential to improving outcomes for all pregnant women.
Genetic renaissance: a cross-regional analysis of the approval landscape of authorised gene therapeutics in paediatrics, challenges and future prospects.
Ahmad A, Simran S, Kalokhe VM … +5 more , Musthafa F, Gangawane VS, Choudhary KK, Raghuvanshi RS, Srivastava S
J Community Genet · 2025 Oct · PMID 40397378 · Full text
Gene therapies are proven to be a milestone in the treatment of genetic disorders, especially in children who bear a disproportionately high burden of rare and hereditary diseases. Clinical evaluation of gene therapy (GT...
Gene therapies are proven to be a milestone in the treatment of genetic disorders, especially in children who bear a disproportionately high burden of rare and hereditary diseases. Clinical evaluation of gene therapy (GT) in paediatrics is a significant challenge for every regulatory body. This study examined the available data on GT products that have been authorised for use by children in Japan, Europe, and the United States. We systematically analysed publicly available regulatory databases from USFDA, EMA, and PMDA to track GT approvals. Therapies were categorized based on their intended patient population (adults, paediatrics, or both), approval trends, and regulatory designations such as Orphan Drug Designation (ODD), Fast Track Designation (FTD), Breakthrough Therapy Designation (BTD), and Rare Paediatric Disease Designation (RPDD). As of April 2024, a total of 75 GTs were approved across these three regions for adults, paediatrics, and both populations combined. 37 in the US, 18 in Europe, and 20 in Japan. Among them, 41 were for adults, 13 for paediatrics, and 21 for both age groups. Of the 13 paediatric approvals the USFDA leads in paediatric GT approvals with 7 therapies, followed by the EMA with 5 (of which 2 were later withdrawn due to commercial reasons), and the PMDA with 1 therapy. Gene therapies hold immense promise for paediatric patients, offering life-changing treatments where few or no options exist. However, high costs, complex clinical trial requirements, and long-term safety concerns continue to limit their widespread adoption. This study underscores the urgent need for global regulatory harmonization and policy initiatives to improve access to paediatric GTs. While regulatory frameworks have enabled faster approvals, sustained efforts are required to ensure affordability, long-term safety, and equitable access for children worldwide.
Lack of provision of social and emotional information about Down syndrome associated with negative prenatal diagnosis experiences.
Meredith S, Kleinert HL, Li J … +2 more , Weiss S, Drummond J
J Community Genet · 2025 Jun · PMID 40372673 · Full text
To determine how physician adherence to recommended practices for discussing Down syndrome (DS) impacts patient experiences, and which of these recommendations most correlate with positive prenatal patient experiences. O...
To determine how physician adherence to recommended practices for discussing Down syndrome (DS) impacts patient experiences, and which of these recommendations most correlate with positive prenatal patient experiences. Online surveys were distributed to mothers of children with DS born between 2016-2021. The descriptions of prenatal experiences were assigned sentiment analysis scores: positive, negative, or neutral. The scores were then compared against the adherence of clinicians to recommended practices for delivering prenatal screening results. Of the 167 patients in this study, over 50% described a negative experience. The odds of having a neutral/positive diagnosis experience were about 18 times greater for those patients whose physicians adhered to all seven social recommendations. The odds of having a positive/neutral screening experience were 11.4 times greater for those patients whose physicians adhered to both emotional recommendations (not saying "I'm sorry" or conveying the diagnosis as bad news"). Most of the variance in the patient diagnosis experience was attributed to adherence to emotional recommendations and social recommendations. To meet the needs of patients, obstetricians need to address emotional, social, and informational needs by providing 1) access to balanced and accurate information about disabilities and 2) being better trained on sensitive communications.
Clinical research in rare diseases in Brazil: challenges and opportunities.
Pozzebon da Silva L, Alves Vieira T, Leiria da Silveira G … +1 more , Giugliani R
J Community Genet · 2025 Aug · PMID 40369329 · Full text
This article provides a concise overview of the clinical research landscape concerning Rare Diseases in Brazil. Rare Diseases, affecting a small portion of the population, present a substantial public health concern. Est...
This article provides a concise overview of the clinical research landscape concerning Rare Diseases in Brazil. Rare Diseases, affecting a small portion of the population, present a substantial public health concern. Estimates suggest that between 7 to 12 million Brazilians may be affected by these conditions. Despite incomplete epidemiological data on Rare Diseases in Brazil, collaborative efforts among various institutions are underway to address this gap. The Brazilian Policy of Comprehensive Care for People with Rare Diseases was launched in 2014 aiming to enhance diagnosis and follow-up care, thereby facilitating recruitment for clinical trials. The approval process for clinical studies in Brazil involves rigorous ethical evaluation by CEPs-Comitês de Ética em Pesquisa (Research Ethics Committees) and CONEP-Comissão Nacional de Ética em Pesquisa (National Commission on Ethics in Research), along with regulatory assessment by Anvisa-Agência Nacional de Vigilância Sanitária (the Brazilian Health Regulatory Agency). While timelines for approval can be lengthy, recent regulatory changes are streamlining the process. Despite challenges, conducting clinical research on Rare Diseases in Brazil offers unique opportunities for large, inclusive and diverse patient populations. The evolving regulatory landscape and collaborative initiatives hold promise for accelerating clinical trial participation and advancing therapeutic options for Rare Diseases, consequently improving patient outcomes and quality of life.
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