Journal Of Community Genetics[JOURNAL]
Sun
200 papers
Survey on new technologies and precision medicine to advance healthcare.
Díaz Jiménez R, Trakadis Y, Advisory Group
J Community Genet · 2026 Mar · PMID 41880090 · Full text
Precision medicine (PM) is transforming healthcare by tailoring prevention and treatment options based on genetic variability, environmental exposures, and lifestyle. Given the recent advancement of genetic technologies,...
Precision medicine (PM) is transforming healthcare by tailoring prevention and treatment options based on genetic variability, environmental exposures, and lifestyle. Given the recent advancement of genetic technologies, it is important to assess the extent to which current medical education prepares clinicians to apply PM in practice. This multi-method, qualitative descriptive study explores the perceptions of medical trainees, practicing physicians, and genetic counselors in USA and Canada. Participants first completed an online survey (n = 297) on this topic, followed by in-depth, semi-structured interviews with a subset of medical trainees (n = 33). Thematic content analysis was used to identify key themes related to PM implementation and education. Improved patient outcomes, personalized care, and preventative potential were underlined as benefits of PM. Significant barriers were highlighted, such as insufficient personnel trained to interpret genomic data and limited formal education on PM concepts. Both trainees and professionals emphasized the need to enhance PM education across training levels. Our findings reveal critical gaps in current medical education related to PM, particularly the genetic aspects essential for clinical application. Addressing these gaps through targeted curriculum development is necessary to better prepare future clinicians for the integration of PM in healthcare.
Stigma: an inherited blame.
Shambhavi A, Kafley P
J Community Genet · 2026 Mar · PMID 41880085 · Full text
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Patients' and family members' experiences with cascade testing for Lynch syndrome in the USA: a qualitative interview study.
Stewart NP, Courtney EK, Roberts MC … +1 more , Turbitt E
J Community Genet · 2026 Mar · PMID 41870811 · Full text
Cascade testing for Lynch syndrome is critical for the identification of at-risk relatives who may benefit from early detection and risk-reduction strategies. Uptake of cascade testing within families has consistently re...
Cascade testing for Lynch syndrome is critical for the identification of at-risk relatives who may benefit from early detection and risk-reduction strategies. Uptake of cascade testing within families has consistently remained low, and strategies developed to address this have had varying degrees of success. Limited research exists that investigates the perspectives and lived experiences of individuals with or at risk of Lynch syndrome, particularly through rich qualitative methods in the context of cascade testing. This study aimed to explore the lived experience of patients and relatives with cascade testing for Lynch syndrome in the USA. We analyzed qualitative interviews performed with twenty patients either diagnosed with Lynch syndrome, or with a family member diagnosed with Lynch syndrome, using reflexive thematic analysis. Three overarching themes were developed: (1) logistics of disclosure, 2) emotions and beliefs surrounding cascade testing, and 3) reflections on strengths and limitations cascade testing. Genetic counseling was an important component of the cascade testing process; however, participants often described feeling under supported. We propose that alternative models of service provision could help to address this lack of support, and therefore assist in optimizing uptake of cascade testing for Lynch syndrome.
The impact of stigma on people with albinism in Africa: a narrative review.
Kromberg JG, Kerr RA
J Community Genet · 2026 Mar · PMID 41863705 · Full text
Oculocutaneous albinism (OCA) is a recessively inherited condition which affects about 1 in 5,000 people in Africa. The depigmentation of the skin and hair is very striking, unusual and unexpected, and stigmatisation has...
Oculocutaneous albinism (OCA) is a recessively inherited condition which affects about 1 in 5,000 people in Africa. The depigmentation of the skin and hair is very striking, unusual and unexpected, and stigmatisation has been ongoing for centuries. This narrative review asked: How does stigma related to OCA manifest in African settings, what drives it, what impacts does it have across health, education, psychosocial well-being and human rights, and what interventions have been proposed or implemented to reduce harm? The review was conducted using searches of PubMed and Google Scholar (up to June 2024), supplemented by targeted retrieval of policy and NGO reports; 60 sources met inclusion criteria and were synthesised thematically. Results showed that widely held cultural beliefs and myths, that originate in perceptions of difference cause, and perpetuate, stigmatisation. Maternal-infant bonding, schooling, social interactions, health, marriage, employment issues, personal safety and human rights may all be affected by the stigmatising behaviour of the community. Children as well as adults may be attacked for their body parts, believed to make powerful medicine in some countries. Healthcare workers’ stigmatising attitudes may result in poor delivery of essential health care services. Services that should be provided for people with albinism include appropriate healthcare, genetic counselling, and possibly general counselling to provide support and guidance for managing the condition and coping with the issues associated with endemic stigmatisation. In conclusion, stigma related to OCA in Africa is driven primarily by socio-cultural beliefs and reinforced by structural inequities, producing wide-ranging harms across the life course. Awareness programs are required to inform the public and dispel myths, specialised healthcare services need to be increased, and guidelines on managing albinism should be provided to health and educational professionals, so that incidents of stigmatisation may be minimised.
Consanguinity in the Lebanese population: knowledge, attitudes and practices.
Chouery E, Ibrahim JN, Deeb ME … +11 more , Sobh A, Ghanem M, Sobh J, Choueiry FE, Rashwan R, Swaidan D, Abdelrazzak A, Massad C, Fouani AE, Mehawej C, Megarbane A
J Community Genet · 2026 Mar · PMID 41863674 · Full text
Consanguinity is associated with an increased risk of autosomal recessive diseases. Its prevalence varies globally, with notably high prevalence in Middle-Eastern countries. Gaining insight into both the prevalence of co...
Consanguinity is associated with an increased risk of autosomal recessive diseases. Its prevalence varies globally, with notably high prevalence in Middle-Eastern countries. Gaining insight into both the prevalence of consanguineous marriages and societal attitudes toward them is essential for designing effective public health interventions. This study examines the current prevalence of consanguinity in Lebanon and explores its contributing risk factors. It further evaluates the knowledge of the Lebanese population regarding this practice and premarital genetic screening, as well as their attitudes toward consanguinity and genetic counseling. A cross-sectional survey was conducted among 984 Lebanese individuals, aged 18 to 65 years, using an online self-administered questionnaire. The prevalence of consanguinity in Lebanon was found to be 24.5%, with first-cousin marriages comprising 46.5% of these unions; place of residence was the only independent factors affecting consanguinity prevalence among our sample. Most participants had a good understanding of consanguinity but misconceptions about specific genetic risks persisted. Attitudes varied, with participants from consanguineous backgrounds showing greater acceptance of the practice. Logistic regression identified gender, education, occupational status, and age as independent predictors of consanguinity while insufficient income, having consanguineous parents, and having a poor knowledge were associated with a positive attitude towards consanguinity. While the prevalence of consanguinity remains high and consistent over time, societal beliefs and cultural practices continue to influence this phenomenon. Public health interventions should focus on raising awareness and disseminating accurate information about the implications of consanguinity and the importance of genetic counseling, particularly among communities with high prevalence of consanguinity.
Views and experiences regarding workplace genetic testing: findings from a national survey of U.S. employees.
Blasco D, McCain S, Pal S … +8 more , Uhlmann WR, Ferber R, Sanghavi K, Charnysh E, Prince AER, Lee C, Roberts JS, INSIGHT @ Work Consortium
J Community Genet · 2026 Mar · PMID 41862740 · Full text
The emergence of voluntary health-related genetic testing in workplace wellness programs indicates a need to understand employees’ views and experiences regarding workplace genetic testing (wGT). A large, diverse nationa...
The emergence of voluntary health-related genetic testing in workplace wellness programs indicates a need to understand employees’ views and experiences regarding workplace genetic testing (wGT). A large, diverse national sample of employed adults (N=2000; median age=43 years; 51.1% female; 33% non-white) completed a web survey of their wGT views and experiences. Although 80% of participants indicated their employer did not offer wGT, 54.1% were interested in testing, especially (somewhat/very) for cancer (89.2%), heart disease (93.1%), and Alzheimer’s disease (85.3%). Characteristics associated with wGT interest included younger age (<55 years), Hispanic/Latino ethnicity, genetic testing experience or familiarity, and a positive family medical history (all p<0.05). Reasons for pursuing wGT (e.g., inform health behaviors) were endorsed more frequently than reasons for declining (e.g., insurance/employability concerns). Among participants offered wGT (20%), 60% indicated having undergone testing. Test uptake was associated with personal medical history, greater familiarity with genetic testing, and self-reported physical health (all p<0.05). A minority of employed adults surveyed reported being offered, or having had, wGT. Nevertheless, many employees are potentially interested in wGT, particularly for common diseases. Although employees have wGT concerns, many view it as beneficial to inform health behaviors and decisions.
Genetic insights: proband- only exome sequencing in pediatric neurological disorders.
Uppal K, Kaushik H, Gupta MB … +3 more , Polipalli SK, Kumar S, Kapoor S
J Community Genet · 2026 Mar · PMID 41862700 · Full text
Exome sequencing (ES) is emerging as a cost-effective and useful diagnostic tool for identifying pediatric neurological disorders with diverse clinical presentations. This retrospective study reviewed ES data from Januar...
Exome sequencing (ES) is emerging as a cost-effective and useful diagnostic tool for identifying pediatric neurological disorders with diverse clinical presentations. This retrospective study reviewed ES data from January 2021 to November 2023 for children with neurological symptoms that met the inclusion criteria at the genetic laboratory, Lok Nayak Hospital, New Delhi. Eighty-three children with the mentioned neurological features underwent proband-only ES. Of these, 43/83 (51.80%) were diagnosed with pathogenic (P) or likely pathogenic (LP) variants, 36/83 (43.37%) had variants of unknown significance (VUS), and 10/83 (12.04%) showed no variant. A definitive diagnosis could be established in 46.98% (39/83) of the patients. The results demonstrate the high diagnostic yield of ES for children with diverse neurological phenotypes, making it a useful tool for diagnosing pediatric neurological disorders. Achieving specific genetic diagnosis would not only be useful in planning further management and prognostication, but would also aid in offering genetic counselling and prenatal diagnosis to the parents of the affected proband, if they are planning any future pregnancies.
A feasibility study to collect three generation family histories using a patient completed questionnaire provided by a family physician.
Evans DR, Lee K, Blood KA … +2 more , Mawdsley M, Dawes M
J Community Genet · 2026 Mar · PMID 41843209 · Full text
Assessing family history is an important part of routine family practice. The primary aim of this study was to determine whether patients can complete a take home questionnaire provided by their family physician. 564 eli...
Assessing family history is an important part of routine family practice. The primary aim of this study was to determine whether patients can complete a take home questionnaire provided by their family physician. 564 eligible patients attached to a family practice in British Columbia were invited to participate in the study. The average age of invitees was 55.59 years old. Among them, 277 were male (49.1%) and 287 were female (50.8%). 89 participants returned a family history questionnaire, 15.78% response rate. The average age of participants was 65.8 and ranged from 22 to 92 years old. 32 participants were male (35.9%) and 57 were female (64.0%). Family history pedigrees were obtained from the questionnaires. Family history and pedigrees inform health care decisions as part of routine care and risk assessment in a family practice setting. Assessing family history in the workflow of a family physician's office will be important to integration of genetics and family medicine in the future. Our study demonstrates the feasibility of family history assessment in family practice.
Reframing bioinformatics capacity development in Africa: from training supply to research-driven demand.
Hussein J, Myovela H
J Community Genet · 2026 Mar · PMID 41831045 · Full text
Bioinformatics has become central to modern genomics and data-intensive life science research, yet capacity development across Africa remains uneven. This review examines the evolution of bioinformatics capacity on the c...
Bioinformatics has become central to modern genomics and data-intensive life science research, yet capacity development across Africa remains uneven. This review examines the evolution of bioinformatics capacity on the continent, evaluating historical investments in training, infrastructure, and collaborative research initiatives. Using narrative synthesis, we assess major continental programs including H3Africa and post-H3ABioNet initiatives. Evidence reviewed suggests that bioinformatics capacity development is most sustainable when skills development and research facilities investments are embedded within funded, data-generating research programs. Regional case studies show that research-led environments promote workforce retention and scientific productivity. Persistent challenges including infrastructure limitations and uneven investment continue to affect analytical capacity and competitiveness. The review proposes a demand-driven framework in which sustained research funding, data production, and embedded training mutually reinforce long-term bioinformatics development. Such an approach may better support locally led genomic research and strengthen Africa’s participation in global data science and precision health initiatives.
Role of the primary healthcare providers in sickle cell disease management: a scoping review.
Gazta P, Gautam J, Thakor M … +2 more , Bhardwaj P, Mohanty SS
J Community Genet · 2026 Mar · PMID 41779121 · Full text
The primary healthcare (PHC) system is essential for facilitating adherence to care practices among patients with sickle cell disease (SCD). While the PHC system is being strengthened widely, effective disease management...
The primary healthcare (PHC) system is essential for facilitating adherence to care practices among patients with sickle cell disease (SCD). While the PHC system is being strengthened widely, effective disease management is often seen as compromised. This review emphasizes the pivotal role of primary healthcare providers (PHPs) in facilitating comprehensive SCD care services through culturally competent screening, counselling and long-term disease management within the patient’s immediate social and geographic environment. The population-concept-context (PCC) framework was applied to identify literature on the PHPs’ roles and responsibilities in SCD management among patients with SCD in a PHC setting. This scoping review includes primary research and review articles retrieved from open-access databases, including PubMed, ScienceDirect, Epistemonikos and Google Scholar search engine, from the beginning date of each database to 3rd June 2025. The data extracted from selected studies were synthesized using a descriptive qualitative approach. Out of a total of 825 retrieved research articles, 13 studies qualified to be part of the current review. The results demonstrate that PHPs are central to community genetics, particularly in the management of SCD. Their involvement in screening, counselling, crisis management, prophylaxis, treatment and care coordination is vital for the successful implementation of genetic health interventions at the primary care level. The synthesis suggests that trained PHPs, when supported with proper infrastructure, guidelines and referral linkages, are well-positioned to deliver core components of SCD comprehensive care.
The disclosure of a diagnosis of neuromuscular disease in adulthood: a qualitative study of patients' memories.
Beaujard B, Béhin A, Gargiulo M … +1 more , Castillo MC
J Community Genet · 2026 Feb · PMID 41762367 · Full text
There is a scarcity of studies on the disclosure of diagnosis in adult patients with neuromuscular diseases. The act of disclosing a diagnosis is a pivotal event, particularly when it pertains to genetic, rare, chronic,...
There is a scarcity of studies on the disclosure of diagnosis in adult patients with neuromuscular diseases. The act of disclosing a diagnosis is a pivotal event, particularly when it pertains to genetic, rare, chronic, and progressive illnesses. The objective of this study is to explore the memories and perceptions associated with receiving a diagnosis of a neuromuscular disease in a retrospective study. We conducted semi-structured interviews with n = 30 patients who had received a neuromuscular disease diagnosis at least 1 year and up to 37 years prior to participation in the study. Audio recordings of these interviews were made and transcribed. We carried out a textual analysis with IRaMuTeQ software to identify the main themes of the corpus. Four classes were identified: (1) the confirmation of the diagnostic results, (2) diagnostic delay, (3) psychological representations of neuromuscular disease and their disclosure, and finally (4) the genetic dimension, which also appears as a key theme. The results of this exploration of memories related to the disclosure of a neuromuscular disease diagnosis could help improve the conditions under which such diagnoses are communicated. The method used could also be adapted for the disclosure of other chronic, progressive diseases with a genetic component.
Health care providers' perceptions of screening for risk of type 1 diabetes in newborns using genetic risk scores.
Wright R, Cheves E, Wiggins ST … +6 more , Moultrie RR, Forsythe A, Andrews SM, Frawley H, Cope HL, Peay HL
J Community Genet · 2026 Feb · PMID 41746553 · Full text
To explore health care providers’ perceptions of using polygenic risk scores (PRS) to screen newborns for the risk of developing type 1 diabetes (T1D) prior to its implementation in Early Check, an expanded newborn scree...
To explore health care providers’ perceptions of using polygenic risk scores (PRS) to screen newborns for the risk of developing type 1 diabetes (T1D) prior to its implementation in Early Check, an expanded newborn screening program in North Carolina (NC), an online survey was conducted with pediatric providers in NC followed by interviews with a subset of providers who responded to the survey. Forty-eight providers completed the survey, and 14 participated in an interview. Participants identified improved health outcomes, provider decision-making, and parental decision-making as the primary potential benefits of screening for risk of T1D. Increased parental anxiety, insufficient provider knowledge, and out-of-pocket expenses for families were described as significant potential barriers. Participants requested tools for educating parents on screening and results, guidelines for follow-up and when to refer to a specialist, and access to a genetic counselor for questions. Participants were generally supportive of screening for T1D risk using PRS, though barriers need to be addressed to optimize the practice for widespread clinical use. This study fills a gap in the literature related to providers’ attitudes and perspectives on screening for T1D using PRS in newborns.
Developing a Replicable Cardiogenetic Care Model: Insights from the Saguenay-Lac-Saint-Jean Founder Population.
Cruz Marino T, Leblanc J, Tardif J … +6 more , Thomas MJ, Pratte A, Leclerc F, Godbout J, Beaudoin J, Barabas M
J Community Genet · 2026 Feb · PMID 41712095 · Full text
Saguenay–Lac-Saint-Jean (SLSJ), a geographically isolated region in Quebec (Canada), harbors a genetically homogeneous population shaped by a triple founder effect and subsequent genetic drift. While founder autosomal re...
Saguenay–Lac-Saint-Jean (SLSJ), a geographically isolated region in Quebec (Canada), harbors a genetically homogeneous population shaped by a triple founder effect and subsequent genetic drift. While founder autosomal recessive disorders are well documented in this population, the genetic basis of hereditary cardiovascular diseases (HCDs) remain underexplored. This study describes the development of a novel cardiogenetic care model and characterizes the regional genetic landscape of HCDs in SLSJ. From October 2014 to December 2024, two patient groups were evaluated at the Cardiogenetics Clinic: (1) individuals affected with cardiomyopathies, arrhythmias, or thoracic aortic disease; and (2) asymptomatic at-risk relatives undergoing predictive testing. Genetic investigations included multigene panel testing and targeted familial variant analysis. A longitudinal clinical database captured clinical and molecular data. The Cardiogenetics clinic evolved from a traditional one-on-one model into two scalable care pathways: the “Individual Trajectory” and the “Group Genetic Counseling Trajectory”. Over 10 years, 443 affected individuals and 294 at-risk relatives were assessed. Six recurrent pathogenic or likely pathogenic variants were identified across multiple unrelated, non-consanguineous French-Canadian families, consistent with allelic enrichment through genetic drift. The clinical database enabled genotype–phenotype correlation and informed cascade testing strategies. This tailored cardiogenetic care model improved access to timely genetic diagnosis, personalized risk management, and family-based preventive care. It presents a scalable framework applicable for other underserved populations and underscores the importance of integrating precision medicine into regional health systems. The identification of recurrent variants enhances understanding of the regional genetic etiology of HCDs and supports future screening efforts.
Is sickle cell trait truly benign? A case-control study of physical and mental health outcomes from the sickle cell belt of Eastern India.
Bindhani BK, Devi NK, Saraswathy KN
J Community Genet · 2026 Feb · PMID 41703214 · Full text
Sickle cell trait (SCT) has long been considered a benign carrier condition; however, emerging evidence suggests that individuals with SCT may experience adverse health outcomes, both physical and mental. These findings...
Sickle cell trait (SCT) has long been considered a benign carrier condition; however, emerging evidence suggests that individuals with SCT may experience adverse health outcomes, both physical and mental. These findings challenge the conventional notion of SCT as clinically insignificant. Therefore, the present study aims to capture the physical and mental health of SCT individuals among scheduled caste (SC) and scheduled tribe (ST) populations of Odisha, India. This cross-sectional study was conducted in the hard-to-reach regions, primarily located in the mountainous terraces of Koraput district, Odisha. A total of 382 individuals (182 SCT individuals and 200 controls) of either sex, aged between 30 and 58, were recruited for the present study. SCT individuals were identified by screening through the sickle cell slide technique. Somatometric, physiological, and biochemical data were obtained using standard protocols and techniques. Beck’s Depression Inventory (BDI) tool was utilized to assess mental health. Hemoglobin, SpO₂, blood sugar, and pulse rate were significantly affected in SCT individuals. However, they were found to be protected against overweight, obesity, and hypertension. Most importantly, a significantly higher percentage of SCT individuals (17.03%) were depressed compared to the controls (4.5%) (p < 0.001). The present study found that physical health, mental health, and quality of life were affected among individuals with sickle cell trait. Therefore, it is important to recognize that being a carrier of the HbS gene is not always a benign condition.
A multidisciplinary perspective on advancing genomic nursing in Portugal: roles, barriers and system-level solutions.
Silva MJ, Costa C, Guimarães L … +3 more , Riper MV, Figueiredo MDCB, Paneque M
J Community Genet · 2026 Feb · PMID 41699196 · Full text
The rapid expansion of genomic science has reshaped healthcare delivery, creating new demands for interdisciplinary collaboration and highlighting the need to integrate genomics into nursing practice and education. This...
The rapid expansion of genomic science has reshaped healthcare delivery, creating new demands for interdisciplinary collaboration and highlighting the need to integrate genomics into nursing practice and education. This qualitative study explored how multidisciplinary genomic specialists, including medical geneticists, genetic counsellors and nurses, conceptualize nurses’ roles in genomic healthcare and the conditions required for effective integration in Portugal. Two online focus groups (n = 10) were conducted and the data were analyzed using Reflexive Thematic Analysis, following Braun and Clarke’s framework. Through an iterative and interpretive process, three themes capturing patterns of shared meaning were developed: the role of nurses in genomic teams, barriers to integrating genomics in nursing education and practice, and systemic and organizational solutions for genomic integration. Participants viewed nurses as pivotal to ensuring continuity, coordination and person- and family-centered care within genomic pathways. However, integration remains constrained by limited genomic literacy, fragmented educational provision, lack of regulatory recognition and insufficient institutional support. Participants highlighted the need for structured and longitudinal genomic education across undergraduate, postgraduate and continuing professional development levels, supported by clear role delineation, clinical supervision and professional recognition. They also emphasized advocacy and policy alignment as essential to building the infrastructure required for sustainable genomic nursing practice. Advancing nursing genomics in Portugal will require coordinated educational, organizational and regulatory reform, with nurses positioned as key contributors to equitable and person-centered genomic care.
Distinguishing social and medical traits: perspectives of scientists using polygenic scores.
Waltz M, Meagher KM, Canter C … +4 more , Kucmanic M, Kuczynski KJ, Prince AER, Cadigan RJ
J Community Genet · 2026 Feb · PMID 41688830 · Full text
Polygenic scores (PGS) have been developed for a wide variety of traits, such as cancer, risk tolerance, obesity, asthma, educational attainment, and cardiovascular disease. Prior research shows that the public tends to...
Polygenic scores (PGS) have been developed for a wide variety of traits, such as cancer, risk tolerance, obesity, asthma, educational attainment, and cardiovascular disease. Prior research shows that the public tends to view the use of genetic information for medical traits more favorably than for social or other non-medical traits, and legal and policy discourse regularly treats medical and social traits as distinct categories. However, distinguishing between social and medical traits can be conceptually and practically challenging. Drawing on 47 semi-structured interviews with researchers who have developed or utilized PGS across a range of traits, this study examines how scientists discussed and conceptualized a dividing line between what is medical and what is social, as well as the perceived necessity of a medical/social divide. Overall, the scientists we interviewed broadly agreed that the line is ambiguous; they did not hold unequivocal views about what constitutes a social versus a medical trait, nor where a clear line might be drawn. Instead, they reasoned through any distinctions between social and medical traits in varied and sometimes conflicting ways, including attempting to draw the line, highlighting the role of social context in drawing the line, questioning the line’s relevance, and pointing to the line’s policy implications. We argue that this ambiguity has significant implications for how PGS research is conducted, interpreted, and regulated, calling for a reexamination of regulatory strategies that rely on this distinction.
The relationship between mothers' health literacy and their knowledge and attitudes towards newborn screening.
Sert S, Unsal A, Arslantas D … +2 more , Arslangiray O, Dinleyici M
J Community Genet · 2026 Feb · PMID 41636987 · Full text
Newborn screening (NBS) aims to reduce morbidity, mortality, and long-term burden through early detection of asymptomatic but serious diseases. Maternal health knowledge is essential for reducing psychosocial consequence...
Newborn screening (NBS) aims to reduce morbidity, mortality, and long-term burden through early detection of asymptomatic but serious diseases. Maternal health knowledge is essential for reducing psychosocial consequences and supporting timely diagnosis. This study aimed to assess mothers’ health literacy and its association with their knowledge and attitudes toward newborn screening, along with other related factors. We conducted a cross-sectional descriptive study among mothers of children under five years of age who were admitted to a university hospital in Eskişehir province, Türkiye, between November and December 2024. A total of 512 mothers were included consecutively. Data were collected using a questionnaire including sociodemographic characteristics, the Maternal Knowledge and Attitudes About Newborn Screening Scale (MKANSS), and the Health Literacy Scale (Short Form). Multiple linear regression analysis was used. The mean age was 32.4 ± 5.9 years. The mean MKANSS score was 16.01 ± 7.04 (median:16). Heel-prick tests, hearing, and vision screening were most frequently recognized. Multiple regression analysis showed that higher knowledge and more positive attitudes were associated with higher income, no consanguinity with spouse, knowledge of prenatal tests, awareness of NBS diseases, and receiving information from healthcare professionals. Higher health literacy was also associated with greater knowledge and more favourable attitudes. In conclusion, mothers showed moderate knowledge and positive attitudes toward newborn screening. Socioeconomic and informational factors, particularly health literacy, were strong predictors. Improving maternal health literacy through antenatal counseling and accessible educational materials could enhance participation in screening programs.
Virtual deliberation on genetics research: report-out of key themes from Diné (Navajo) research & healthcare professionals.
Sherman CA, Nez LC, Aagaard KM … +11 more , Livingston DJ, Blacksher E, Reedy J, Hiratsuka VY, Phelps W, Blanchard JW, Lund JR, Beans JA, Nez FL, Garrison NA, Claw KG
J Community Genet · 2026 Feb · PMID 41632356 · Full text
Various challenges including cultural concerns, the shortage of Diné (Navajo) scientists and scientists with cultural competence to engage with Diné communities, and the need for rigorous policies regarding genetic resea...
Various challenges including cultural concerns, the shortage of Diné (Navajo) scientists and scientists with cultural competence to engage with Diné communities, and the need for rigorous policies regarding genetic research led to the establishment of a moratorium on genetic research within the Navajo Nation in 2002. Previous surveys with Diné interest holders highlighted ongoing uncertainty about lifting the moratorium and underscored the need for further community consultation and education. Deliberative democratic engagement has been an effective approach for exploring Indigenous community values regarding genomic research. To assess perspectives on genetic research and inform future policy, we conducted a two-day virtual deliberation with 17 research and healthcare professionals associated with the Navajo Nation, including Diné (n = 15) and non-Diné (n = 2) deliberants. Deliberants varied in their knowledge of genetics (n = 5 reported knowing "a lot"; n = 12 "a little bit"), and a majority (n = 13) were aware of the moratorium. Two overarching themes, "life and history experiences" and "values," emerged, reflecting how personal and professional backgrounds, alongside individual and collective standards, shaped deliberants' views on genetic research and its practices. Subthemes within these categories offered deeper insights into their perspectives. Although deliberants expressed caution regarding exploratory genetic studies, there was interest in using genetic research to advance individualized healthcare. Deliberants' concerns emphasized the need for a robust genetic research policy that prioritizes Diné culture, community interests, public health and wellbeing, and the sovereignty of the Navajo Nation.
Services for Patients with Rare Genetic Diseases in Germany.
Schmidtke C, Kühnen P, Mai K … +4 more , Mundlos C, Cepus JS, Heider N, Lipp T
J Community Genet · 2026 Jan · PMID 41618057 · Full text
It is estimated that there are currently around 4 million people with a diagnosed rare disease living in Germany, 300 million people worldwide. Rare Disease Centers (RDCs) were founded in Germany as part of the National...
It is estimated that there are currently around 4 million people with a diagnosed rare disease living in Germany, 300 million people worldwide. Rare Disease Centers (RDCs) were founded in Germany as part of the National Action Plan for People with Rare Diseases to improve patient care. Currently, more than 30 RDCs exist. With a focus on coordinating patient pathways and guiding people with a definite or a suspected diagnosis of a rare disease, RDCs organize interdisciplinary case conferences and form networks with dedicated local, national, and international experts for specific rare diseases. This article expounds on the current status and the function of RDCs in Germany. The Berlin Center for Rare Diseases will be discussed as an example. In addition to a description of the center’s workflow, its relationship to other organizations such as European Reference Networks and Patient Organizations as well as its role within the National Strategy for Genomic Medicine will be explained.
Does genetic testing impact stigma in autism: A scoping review.
Molloy CJ, Miles A, Christoff C … +6 more , Cunningham J, Reilly J, Vorstman J, Austin J, Hawke LD, Gallagher L
J Community Genet · 2026 Jan · PMID 41604047 · Full text
Public stigma is a society’s negative attitude toward a person or groups of people, self-stigma relates to the internalisation of these negative attitudes, and affiliate stigma is experienced by those associated with a s...
Public stigma is a society’s negative attitude toward a person or groups of people, self-stigma relates to the internalisation of these negative attitudes, and affiliate stigma is experienced by those associated with a stigmatised group. Both autism and genetic testing results can be stigmatised. This scoping review explored relationships between genetic testing and stigma in autism, to understand any perceived positive or negative effects. Embase Classic, and APA PsycINFO via Ovid databases were searched on May 30th, 2023, and updated January 9th, 2025. Included articles related to experiences of or attitudes toward genetic testing or genetic counselling, and involved autistic people, people with autism-related genetic conditions, or their parents, and explored stigma and stigma-related factors. Twenty-five articles were included: three included autistic adults and twenty-two included parents of autistic people or those with autism-related genetic conditions. Stigma-related factors included both autistic people’s and parent concerns surrounding social and insurance discrimination, parental experiences of isolation and ignorance in relation to the healthcare system, and perceptions of labelling. Findings were mixed regarding self-blame, worry and stress among autistic adults. Some parents reported an increase in worry and stress relating to discrimination, while others reported relief related to genetic test results and enhanced biological understanding. This review highlights the lack of focus on perspectives of autistic adolescents and individuals with autism-related genetic conditions, regarding genetic testing impacts on stigma. Future research should address these gaps to inform more supportive clinical and societal practices.
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