Journal Of Community Genetics[JOURNAL]
Sun
200 papers
Sickle cell disease-related myths and misconceptions among tribal communities in India: a multi-state qualitative study.
Sharma Y, Sridevi P, Sarmah J … +7 more , Sudhakar G, Ranjit M, Surti SB, Bhat D, Bal M, Jena RK, Babu BV
J Community Genet · 2026 Jul · PMID 42399606 · Full text
Myths and misconceptions surrounding sickle cell disease (SCD) can shape stigma and influence the treatment and interaction with healthcare services. In India, where SCD disproportionately affects tribal populations, lim...
Myths and misconceptions surrounding sickle cell disease (SCD) can shape stigma and influence the treatment and interaction with healthcare services. In India, where SCD disproportionately affects tribal populations, limited evidence exists on myths and misconceptions across endemic regions. This study explored culturally embedded myths and misconceptions related to SCD among tribal communities in India and examined their implications for stigma and healthcare-seeking behaviour. A qualitative descriptive study was conducted across nine SCD-endemic tribal districts in India. Data, collected through in-depth interviews with key informants and focus group discussions with community members, were analysed using thematic content analysis. Themes were organised around domains of causation, transmission, heredity, prognosis and treatment. The study identified diverse SCD-related beliefs, myths and misconceptions across the study sites. These were organised around domains and grouped into four broad categories: locally rooted explanatory beliefs, including supernatural, spiritual, dietary and lifestyle-related explanations; misconceptions arising from incomplete biomedical understanding, particularly regarding contagion, heredity and consanguineous marriage; distorted interpretations of medical or programme-related messages, especially around marriage, reproduction and long-term treatment; and social consequences related to stigma, fatalism, perceived productivity and economic burden. These categories overlapped across sites, with some beliefs being locally specific and others commonly reported across tribal settings. SCD-related myths and misconceptions in tribal India are socially embedded and extend beyond simple informational gaps. Culturally responsive communication and counselling approaches that acknowledge local explanatory frameworks, while strengthening accurate understanding of inheritance, treatment and long-term care, are needed within SCD care programmes in endemic regions.
Genetic services in Pakistan: a review highlighting limitations and opportunities for improvement.
Khaliq A, Hussain A
J Community Genet · 2026 Jul · PMID 42390629 · Full text
Genetic services, including genetic testing and genetic counseling, are essential components of modern healthcare and play a critical role in diagnosis, management, and prevention of inherited disorders. In Pakistan, the...
Genetic services, including genetic testing and genetic counseling, are essential components of modern healthcare and play a critical role in diagnosis, management, and prevention of inherited disorders. In Pakistan, the burden of genetic disorders is substantially increased by high rates of consanguinity, limited public awareness, inadequate healthcare infrastructure, and the absence of formal genetic counseling services. This review evaluates the current status of genetic services in Pakistan, focusing on genetic testing facilities, genetic counseling, healthcare infrastructure, workforce limitations, ethical considerations, and recent initiatives aimed at improving genomic healthcare delivery. A narrative review of the literature was conducted using national and international studies related to medical genetics and genetic counseling. The findings indicate that genetic services in Pakistan remain limited, costly, and largely inaccessible within the public healthcare sector. Advanced diagnostic technologies, including whole exome/genome sequencing (WES/WGS), and non-invasive prenatal testing (NIPT), are mostly outsourced internationally, restricting access for much of the population. Furthermore, Pakistan lacks formal postgraduate training programs and professional accreditation systems for genetic counselors (GCs). Recent efforts by the Pakistani Society of Medical Genetics and Genomics (PSMG), including telehealth genetic clinics, educational programs, and international collaborations, represent important steps toward improving genetic services in resource-limited settings. This review emphasizes that establishing a national genomics policy, expanding local diagnostic infrastructure, and developing accredited genetic counseling training programs are urgently needed for the sustainable integration of genomic medicine into Pakistan's healthcare system.
Rare disease genomics and justice: overview of a workshop at the Fondation Brocher, 22-24 January 2025.
Clarke A, Horn R, Avram E … +25 more , Banka S, Boardman F, Charlton V, Drummond M, Favresse R, Ferdinand A, Freis D, Galasso I, Großmann NZ, Halley M, Henriques S, Honné H, Houge SD, Kirmani S, Klaiman TN, Lalova-Spinks T, Malmgren CI, Meade N, Nicod E, Ormond KE, Prainsack B, Van Esch H, Wonkam A, Wynn SL, Forzano F
J Community Genet · 2026 Jul · PMID 42384115 · Full text
Genomics is transforming health care but its implementation raises challenges. This paper reports a 2025 workshop on justice in the implementation of genomics for rare disorders. The workshop goals were to develop a cons...
Genomics is transforming health care but its implementation raises challenges. This paper reports a 2025 workshop on justice in the implementation of genomics for rare disorders. The workshop goals were to develop a consensus understanding of the problems faced by rare disease patients and families where justice is at stake, to achieve a shared perspective on support for rare disease patients, and to consider the implications for justice in several areas of rare disease genomics, in both research and healthcare. We heard about the diverse experiences and needs of patients. Inequity between different rare diseases is marked. The need for coordination of care for rare disease patients is under-recognized but good models of rare disease care exist. The value of conscientious professionalism to nurture a rare disease mindset needs to be emphasized in the training of each new generation of healthcare students//trainees. The circumstances of different population groups differ systematically. The needs of indigenous and other historically marginalised groups must also be addressed. However, the subordination of individuals to the benefit of the population (i.e. eugenics) must be resisted. Those engaged in genomics projects or diagnostics may need protection from hype and misuse of their personal data, There are different perspectives on the fair allocation of resources to healthcare and research for rare conditions. Health economics and health technology assessment can be practised equitably, so as to meet the challenges of rare disease clinical trials and address the needs of patients and communities.
Impact of revised severity criteria on the acceptability of PGT-M for childhood-onset cancer predisposition syndromes: a survey of genetic professionals in Japan.
Terui-Kohbata H, Murai Y, Ebana Y … +1 more , Yoshida M
J Community Genet · 2026 Jun · PMID 42371298 · Full text
The scope of preimplantation genetic testing for monogenic disorders (PGT-M) in Japan, initially limited to severe childhood-onset diseases, appears to be expanding following the 2022 revision of the Japan Society of Obs...
The scope of preimplantation genetic testing for monogenic disorders (PGT-M) in Japan, initially limited to severe childhood-onset diseases, appears to be expanding following the 2022 revision of the Japan Society of Obstetrics and Gynecology's definition of "severity." This study examines the impact of this definitional change on the acceptability of PGT-M by comparing attitudes of Japanese genetic professionals before and after the revision, focusing on three childhood-onset cancer predisposition syndromes: Li-Fraumeni syndrome (LFS), familial adenomatous polyposis (FAP), and neurofibromatosis type 1 (NF1). A two-phase survey was conducted in 2019-2020 and 2024 among clinical genetic specialists supervisors and certified genetic counselors. The survey explored views on PGT-M acceptability, the concept of "selection of life," awareness of the revised severity definition, and background factors influencing opinions. Among 382 respondents, LFS was most frequently judged acceptable for PGT-M, followed by FAP and NF1. Between the two phases, "unacceptable" responses declined, while "neither" increased. Those viewing PGT-M as "selection of life" were more likely to oppose it (r=-.293, p<.01). Genetic professionals in the pediatric field were more likely to consider PGT-M unacceptable (r=-.22, p<.01). These findings suggest that clinical experience, ethical perceptions, and institutional guidelines shape professional attitudes toward PGT-M. These findings have implications for genetic counseling practice and policy discussions surrounding the evolving scope of PGT-M. Ongoing dialogue and education are essential as eligibility criteria and societal values continue to evolve.
Oncogenetics training in Brazilian medical genetics residency programs: current landscape and challenges.
de Queiroz Júnior AF, Acosta AX, Steiner CE … +10 more , de Souza CAA, Kim CA, Vargas FR, de Andrade MDFC, Correia PS, Zen PRG, Heredia RS, de Faria Ferraz VE, Melo DG, Ashton-Prolla P
J Community Genet · 2026 Jun · PMID 42371257 · Full text
Oncogenetics focuses on identifying and managing hereditary cancer predisposition, enabling risk-reducing interventions and targeted therapies. This descriptive study evaluated the landscape of oncogenetics training with...
Oncogenetics focuses on identifying and managing hereditary cancer predisposition, enabling risk-reducing interventions and targeted therapies. This descriptive study evaluated the landscape of oncogenetics training within Medical Genetics Residency Programs in Brazil. Data were collected through online questionnaires and interviews with program supervisors. We assessed rotation availability, timing and duration, clinical and theoretical workload, multidisciplinary care, and competency assessment. Data were analyzed using descriptive statistics. All twelve accredited programs participated. Eleven (92%) offered oncogenetics training, primarily in the third year of residency. While half of the programs provided internal rotations, all allowed external rotations to compensate for local infrastructure limitations. Residents completed a mean of 250.1 practical hours (SD 126.5; range 40-400) over approximately 6.5 months, seeing about 13 patients per week (SD 9.2; range 5-30). Theoretical training averaged 31.3 h (SD 26.8; range 4-70), resulting in a mean total training workload of 258.7 h (SD 159.1; range 4-470). Multidisciplinary care and research opportunities were common; however, formal competency assessments specific to oncogenetics were infrequent. Considerable variability in workload and clinical settings was observed across programs. The findings indicate that oncogenetics is well integrated into Brazilian medical genetics training, aligning with the growing importance of genomic medicine in oncology. Nevertheless, the marked heterogeneity underscores the need for standardized training approaches. The study suggests that establishing inter-institutional networks and formalizing external rotations may help reduce geographic and technological disparities and support more consistent oncogenetics training in medical genetics residency programs across Brazil.
A primary care pharmacogenetic precision medicine pilot based on specific Māori tribal ethical frameworks and principles.
Robertson SP, Halliday BJ, Tibble R … +20 more , Koia C, Haereroa T, Goodin E, Curran B, Rye CE, Wihongi H, Aika BT, de Ligt J, Macartney-Coxson D, Jones N, Huh J, Perkins EO, Pestle M, Zhao K, Kennedy MA, Gladding PA, Markie DM, Print CG, Wilcox PL, Puketapu-Watson H
J Community Genet · 2026 Jun · PMID 42365224 · Full text
Indigenous tribal communities are frequently underserved by genomic medicine because they are under-represented in research, often live in remote locations and have ethical and cultural perspectives that vary from wester...
Indigenous tribal communities are frequently underserved by genomic medicine because they are under-represented in research, often live in remote locations and have ethical and cultural perspectives that vary from westernised standpoints. The Rakeiora platform, a permissioning and analytical environment that incorporates Māori perspectives and ethical frameworks on how precision medicine research is best conducted was used to host a pharmacogenetic exemplar project to demonstrate proof of principle in a tribal community. The project was prospectively co-designed alongside community representatives through an extensive series of kanohi ki te kanohi (face-to-face) consultation hui, drawing on the strengths, insights, and aspirations of the community. Narratives socialising the study were metaphorically located in tribal-specific histories to improve participation. The cohort of 148 Māori individuals consented to have variants in CYP2C19 extracted from whole genome sequence datasets and correlated to the medicines they were prescribed and had dispensed over a 12-month period. Genotyping indicated that 7% of the cohort were genotypically predicted to be "poor metabolisers" and 11% "rapid metabolisers" of at least one drug known to be processed by CYP2C19. Based on international guidelines, 40% of prescriptions could have benefited from knowledge of the participant's CYP2C19 genotype through either dose adjustment or prescription of an alternative drug. The study population was broadly supportive of research into precision medicine, but the majority wished to retain ongoing dynamic consent practices mediated by trusted local figures.
Underutilisation of hydroxyurea in sickle cell disease: a global scoping review of multilevel barriers and facilitators.
Gajbhiye R, Kedar PS, Rani P … +3 more , Chandekar S, J N, Madkaikar M
J Community Genet · 2026 Jun · PMID 42334515 · Full text
Hydroxyurea (HU) is an effective therapy for sickle cell disease (SCD) but remains underused worldwide. This scoping review aimed to identify geographical and multilevel barriers and facilitators influencing hydroxyurea...
Hydroxyurea (HU) is an effective therapy for sickle cell disease (SCD) but remains underused worldwide. This scoping review aimed to identify geographical and multilevel barriers and facilitators influencing hydroxyurea initiation, uptake, and sustained use, using the Socio-Ecological Model (SEM) as a framework to guide the analysis and interpretation of findings. This scoping review followed the PRISMA-ScR guidelines. The Socio-Ecological Model (SEM) was used as an analytical framework to categorise and synthesise barriers and facilitators identified in the literature. PubMed, Scopus, Web of Science, and Google Scholar were searched for peer-reviewed studies. Eligible studies included quantitative, qualitative, and mixed-methods designs reporting barriers and/or facilitators to hydroxyurea use among individuals with SCD. We identified 30 studies across Africa, Asia, Europe, North America, and South America. Barriers to hydroxyurea use were reported across individual, caregiver, provider, health-system, and policy levels. Common barriers included negative beliefs, fear of adverse effects, limited knowledge, financial constraints, and gaps in access and monitoring. Facilitators included education, shared decision-making, peer support, provider training, guideline availability, insurance coverage, and improved drug access. Across settings, structural and health-system barriers were more consistently reported than individual-level factors, suggesting that hydroxyurea underutilisation is driven largely by system-level constraints rather than patient behaviour alone. Underutilisation of hydroxyurea in SCD reflects interacting socio-ecological barriers rather than patient non-adherence alone. Addressing these challenges will require coordinated, multilevel strategies that prioritise health-system strengthening alongside patient support to ensure sustained and equitable access to hydroxyurea.
Development and feasibility testing of a conversational chatbot supporting genetic education and testing for hereditary cancer.
Tundealao S, Heidt E, Grumet S … +7 more , Schwartz MD, Peshkin BN, An J, Walters ST, O'Boyle L, Toppmeyer D, Kinney AY
J Community Genet · 2026 Jun · PMID 42332242 · Full text
This study describes the development and feasibility testing of a digital health guide (DHG) to streamline genetic education, reduce barriers, and promote informed genetic testing (GT) decisions among cancer survivors. T...
This study describes the development and feasibility testing of a digital health guide (DHG) to streamline genetic education, reduce barriers, and promote informed genetic testing (GT) decisions among cancer survivors. This study reports on the DHG's development, usability testing, acceptability, feasibility, and preliminary efficacy in improving genetic counseling (GC) and GT access for cancer survivors. Guided by the Ottawa Decision Support Framework, the DHG prototype was developed following community engagement with cancer patients and at-risk relatives from diverse sociodemographically backgrounds. It was refined through user (content-focused) and usability (functionality-focused) testing. Pilot trial participants provided data through semi-structured interviews and usability assessments. Qualitative data were analyzed using the Framework Method. The preliminary impact of the DHG on GC and GT uptake, and informed decision-making, was assessed in a feasibility and accessibility trial. The Chatbot Usability Questionnaire score for the DHG was 70.3 (IQR = 12.5), indicating good acceptability. The DHG also facilitated GT uptake (73.3%) compared to enhanced usual care (EUC; 7.7%). Pretest GC was requested by 1 of 13 patients in the EUC arm, while no request (0 of 15 patients) was made in the DHG arm. Users' feedback led to clearer language, improved navigation, and stronger messaging regarding data security. DHG participants had lower decisional conflict (33.37 ± 21.09) and decision regret (17.5 ± 16.50) than those in the EUC arm (53.25 ± 22.66 and 37.08 ± 17.38, respectively). The digital intervention is feasible, acceptable, and a promising strategy for expanding GT access and promoting informed decision-making. Further testing in a definitive randomized controlled trial is warranted. Clinical trial registration. This study was preregistered at the NIH clinical trial registry ( https://clinicaltrials.gov/study/NCT06184867 ).
Factors contributing to the underdiagnosis of hereditary transthyretin amyloidosis (hATTR) in Black patients.
Kj H, Ar R, A H … +8 more , N A, B J, Ee B, Em D, Y G, Mo O, Aa M, Kn B
J Community Genet · 2026 Jun · PMID 42307873 · Full text
Hereditary transthyretin amyloidosis (hATTR) is a progressive, multisystemic, and life-threatening disease that disproportionately affects individuals of African descent, with an estimated prevalence of 3.4% of Black Ame...
Hereditary transthyretin amyloidosis (hATTR) is a progressive, multisystemic, and life-threatening disease that disproportionately affects individuals of African descent, with an estimated prevalence of 3.4% of Black Americans. hATTR is often mis- or underdiagnosed, partially because many of its symptoms overlap with other cardiac conditions. This study highlights additional factors that may be contributing to the underdiagnosis of hATTR in Black patients. Participants were ascertained from the Emory University Amyloidosis Clinic with purposive sampling. A total of 11 interviews were conducted via telephone, transcribed, and coded by two coders for thematic analysis. A Cohen's kappa of 0.74 was reached. The overwhelming majority of participants cited misdiagnosis, mistrust of healthcare providers, denial or misunderstanding of one's own health risks, and poor family communication as prevalent contributing factors to the underdiagnosis of hATTR. Participants cited appropriate referrals to heart failure providers and family letters as contributing factors to proper diagnosis of hATTR. Importantly, participants emphasized the need for more personal and intimate relationships with providers in order to improve uptake of genetic testing in this population. Participants suggested engaging directly with the Black community to improve trust. This study highlights the need for improvements to be made regarding the diagnosis of hATTR in the Black population. Participants suspected of having hATTR should be referred to a heart failure cardiologist for appropriate diagnosis. Genetic testing and follow-up genetic counseling is recommended to appropriately inform the patient of health risks for themselves and their family members.
Integrating genomic medicine into primary care -examining perceptions of community advisory board members.
Das P, Kelley WV, Stager CG … +7 more , Osborne T, Moss I, East K, Whitfield S, Korf B, Limdi N, Bateman LB
J Community Genet · 2026 Jun · PMID 42303954 · Full text
The Alabama Genomic Health Initiative (AGHI), funded by the state of Alabama, aims to provide genomic testing, interpretation, and counseling free of charge to Alabama residents. A 14-member Community Advisory Board (CAB...
The Alabama Genomic Health Initiative (AGHI), funded by the state of Alabama, aims to provide genomic testing, interpretation, and counseling free of charge to Alabama residents. A 14-member Community Advisory Board (CAB) was convened in 2021 to provide community insight on integrating genomic medicine into clinical care and assessing future perspectives. The CAB was comprised of members from diverse ethnic backgrounds and represented a wide range of age groups, with balanced gender representation from two Alabama counties. The CAB met quarterly, and the team explored the perceptions of members related to genomic medicine through qualitative inquiry with exploratory quantitative findings. Self-administered pre- and post-surveys, completed prior to the first CAB meeting (pre) and after meeting five (post), were utilized to evaluate positive and negative views towards the future of genomic medicine. Five meetings were conducted in a focus group format, and transcripts were coded and analyzed to identify emerging themes. Ten of fourteen (71%) CAB members completed both surveys. Results indicate there was a slight shift in responses related to the future of genomic medicine from pre to post-test, but no significant changes were noted. Eleven of fourteen (80%) CAB members attended four out of five meetings. The prominent themes included barriers to genomic testing, strategies for recruitment, and recommendations for sharing test results. Members believed that participation in the CAB facilitated acquiring new knowledge and insight on genomic medicine.
Personal values, professional responsibilities and non-invasive prenatal testing: reflections of genetic counsellors in Australia.
Warton C, Vears DF
J Community Genet · 2026 Jun · PMID 42295616 · Full text
The reproductive autonomy rationale endorses the provision of non-invasive prenatal testing (NIPT) to enable individuals to make decisions about their pregnancy in accordance with their personal values. While the persona...
The reproductive autonomy rationale endorses the provision of non-invasive prenatal testing (NIPT) to enable individuals to make decisions about their pregnancy in accordance with their personal values. While the personal values of healthcare professionals may promote autonomous reproductive decision-making in light of increasingly complex genetic information, they may also impinge upon reproductive autonomy through limiting patient access to care. This paper provides timely insight into genetic counsellors' perceptions and implementation of professional responsibilities as well as their views on potential conflicts between healthcare professionals' personal moral values and the provision of NIPT. Semi-structured interviews were conducted with 23 genetic counsellors involved in the provision of NIPT in Australia. Data was analysed using inductive content analysis. Participants expressed a shared understanding of their primary professional responsibilities, however varied in their views around operationalising this responsibility in the context of personal value conflicts. Participants reported emerging conflicts in personal values where NIPT was used to detect conditions perceived to have mild phenotypes. Instances of NIPT provision being impacted by conscientious objections to abortion among colleagues were also reported. Participants empathised with concerns of disability discrimination arising from the provision of NIPT but suggested that this could be addressed through nuances in counselling practice. Participants viewed personal values that impeded patient access to care as incompatible with reproductive autonomy. This has important implications for how reproductive autonomy is operationalised in prenatal genetic counselling practice, particularly as the complexity and quantity of genetic information returned via NIPT continues to increase.
Proxy patients' perceptions of genetic counselor empathy responses.
Bouchard J, MacFarlane I, Veach PM … +2 more , Baker JA, Redlinger-Grosse K
J Community Genet · 2026 Jun · PMID 42283877 · Full text
Empathy, the ability to understand and communicate another's experience to them, positively affects genetic counseling processes and outcomes. Genetic counseling, a specialty healthcare profession, provides education and...
Empathy, the ability to understand and communicate another's experience to them, positively affects genetic counseling processes and outcomes. Genetic counseling, a specialty healthcare profession, provides education and support for those impacted by genetic disease; thus, empathy is critical. Limited studies have explored patients' perceptions of genetic counselor (GC) empathy responses. This study investigated the types of GC responses proxy patients perceived as most empathic and why. Female MTurk workers (n = 198) completed a survey containing two hypothetical genetic counseling scenarios (Fabry disease; postnatal diagnosis of cleft lip and palate) that ended with a patient statement followed by five different GC responses. Participants were asked to identify the GC response that best conveyed empathy and explain their choice. Every GC response was selected by at least one participant. Inductive content analysis of participants' rationales yielded six categories: Understanding, Problem Solving, Sympathizing, Focusing on the Patient, Validating, and Miscellaneous. Understanding was the most prevalent rationale for both scenarios (~ 50% each). While GC responses containing the words "I'm sorry…" were chosen most often for both scenarios (~ 45% each), Sympathizing was the rationale for only ~ 20% of these GC responses. Logistic regression analyses showed significant predictors varied across scenarios and between rationales, with few significant demographic predictors. Participants differed in preferences for empathy statements and rationales, signaling context and tailoring are important when considering empathy. Patient demographics are not recommended in predicting the type of GC patients may find empathic. Ongoing assessment of patients' feelings and needs (empathic resonance) will allow genetic counselors to tailor their empathy communication (expressed empathy) accordingly.
"I felt like a lone ranger": experiences of Australian families living with KIF1A-Associated Neurological Disorder.
Miwa-Dale K, Norman K, Dawson-McClaren B … +4 more , Harris J, Gold WA, Do TT, Kaur S
J Community Genet · 2026 Jun · PMID 42252374 · Full text
KIF1A-Associated Neurological Disorder (KAND) is a heterogeneous group of ultra-rare neurodegenerative conditions. Severe forms of KAND, classified within the broader category of childhood dementia, lead to progressive l...
KIF1A-Associated Neurological Disorder (KAND) is a heterogeneous group of ultra-rare neurodegenerative conditions. Severe forms of KAND, classified within the broader category of childhood dementia, lead to progressive loss of motor, communication and cognitive skills with markedly reduced life expectancy. Although the disorder is genetically and clinically defined, little is known about how families experience diagnosis and ongoing care. To address this gap, we conducted the first empirical investigation into the lived experiences of families living with KAND. Fifteen semi-structured interviews were conducted with 16 parents of individuals with KAND; one interview also included an individual living with KAND. Data were analysed using inductive content analysis. Families described healthcare journeys shaped by frustration and uncertainty, with early concerns frequently dismissed, diagnoses delayed, and access to clinicians with relevant expertise limited. These challenges were compounded by the financial, administrative, psychological and relational strain associated with the complex care needs of KAND. Families reported unmet support needs, including limited access to condition-specific information, difficulties navigating formal support systems, and uncertainty surrounding long-term care planning. In response to these gaps, parents emphasised the need for clearer diagnostic pathways, coordinated multidisciplinary care, and a centralised network of informed healthcare professionals. In the absence of formal support, families relied heavily on peer support networks for information and psychosocial connection. By identifying previously undocumented gaps in rare disease service delivery and support, these findings highlight opportunities to improve clinical genetics practice, strengthen support pathways, and guide future research aimed at enhancing quality of life for individuals with KAND and their families.
Public and patient involvement in developing a survey on re-consent for pediatric genomic data sharing in Japan: a GRIPP2-LF report.
Terui-Kohbata H, Yamamoto M, Takeuchi T
J Community Genet · 2026 Jun · PMID 42250025 · Full text
BACKGROUND: In Japan, adolescents who entered genomic research under proxy consent are asked to re-consent at age 16 for newly collected data, while previously collected data remain usable without consent. Public perspec...
BACKGROUND: In Japan, adolescents who entered genomic research under proxy consent are asked to re-consent at age 16 for newly collected data, while previously collected data remain usable without consent. Public perspectives on re-consent and data sharing are not well understood. To prepare a survey for adolescents, we used public and patient involvement (PPI) to refine the questionnaire and information sheet. METHODS: Four stages of PPI were conducted: a kickoff meeting, two rounds of web-based feedback, and a final discussion. Five PPI members (aged 20-60 s, diverse backgrounds) provided iterative feedback on survey design, wording, and framing. All revisions were documented using GRIPP2-Long Form. RESULTS: PPI members expressed diverse views on re-consent and acceptable secondary data use, supporting the relevance of the survey design. Feedback resulted in major revisions, including clearer terminology, unified wording, improved explanations of parent-child context, existing versus newly collected data, age categorization, and Japan's opt-out procedures. Of 36 comments in the first round, 30 (83%) were incorporated; of 23 comments in the second round, 20 (87%) were incorporated. CONCLUSION: PPI enhanced the clarity, cultural relevance, and acceptability of materials for a survey on re-consent in pediatric genomic data sharing. As one of the first systematic PPI reports from Japan, this work demonstrates how systematic involvement strengthens ethically sensitive research and provides a transparent foundation for forthcoming surveys.
Multiracial individuals' perspectives on participating in genetics research.
Chiriboga E, Hoell C, Martschenko DO … +3 more , Wojcik GL, Wand H, Young JL
J Community Genet · 2026 Jun · PMID 42247206 · Full text
The vast majority of genetics research is confined to a relatively narrow subset of the global population, limiting the benefits of this research. Recommendations to ameliorate this issue frequently include calls to recr...
The vast majority of genetics research is confined to a relatively narrow subset of the global population, limiting the benefits of this research. Recommendations to ameliorate this issue frequently include calls to recruit diverse populations through community engagement, an approach that has been effective in genetics, but has not explicitly included Multiracial individuals, despite this being the fastest-growing population in the United States. As such, this study explored Multiracial individuals' perspectives on: (1) what "Multiracial community" means; (2) concerns regarding ancestry-based genetic testing; and (3) preferences for engaging in different stages of translational genetics research. Fourteen adults who self-identified as Multiracial participated in semi-structured interviews. We used deductive coding from study aims and inductive, iterative coding to identify new themes. Participants expressed diverse ideas about what characterizes the Multiracial community, and lacked clarity on definitions. Common concerns about genetics research included the accuracy of genetics research in its application for Multiracial individuals and the limitations of research to capture their diverse backgrounds. Participants preferred to be engaged during research design, recruitment, and result interpretation and communication. Participants suggested recruiting future study participants from younger, urban regions and emphasized that this is a multifaceted heterogeneous group that cannot easily be categorized. We describe the perspectives of Multiracial individuals, who are often excluded from genetics research because their diverse social identities do not fit traditional methods of categorization. This provides a foundation for developing tailored approaches to recruit and engage Multiracial participants in genetics research, ensuring future studies better reflect human diversity.
Appearance-related stigma and its implications for genetic counselling practice.
Montgomery K, Harcourt D
J Community Genet · 2026 Jun · PMID 42234054 · Full text
In an appearance conscious society, individuals with genetic conditions that affect appearance often face unique psychosocial challenges that can shape reproductive decision-making. While research has highlighted the rol...
In an appearance conscious society, individuals with genetic conditions that affect appearance often face unique psychosocial challenges that can shape reproductive decision-making. While research has highlighted the role of stigma in shaping decision-making, little is known about how genetic counsellors perceive and address appearance-related concerns in clinical practice. This study explored the experiences of UK-based genetic counsellors working with individuals affected by congenital conditions that alter appearance, with a focus on reproductive decision-making. Using a qualitative design, six genetic counsellors across different genetic specialties were recruited and interviewed. Data were analysed using reflexive thematic analysis revealing three key themes. The first theme highlighted genetic counsellors' perceptions of how social and emotional factors (particularly guilt, shame and lived experience) influenced reproductive choices, with patients often expressing concern about passing on conditions associated with stigma. The second theme explored a perceived reluctance among patients to discuss appearance-related concerns which in turn made counsellors cautious about raising such topics. The third theme identified a need for more inclusive and accessible information and support, alongside enhanced training for counsellors in addressing appearance-related stigma. Participants emphasised the value of lived experience in shaping practice and called for greater awareness of the genetic counselling role to improve accessibility. These findings inform future training and support within genetic counselling.
Correction to: 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 Jun · PMID 42219440 · Full text
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Parental consanguinity and the prevalence of congenital anomalies in Venezuela: a comparative analysis with the Latin American Collaborative Study of Congenital Malformations-ECLAMC.
Senior BJ, Negri J, Camelo JL
J Community Genet · 2026 May · PMID 42216966 · Full text
Parental consanguinity can increase the risk of selected congenital anomalies, but its population impact depends on local marriage patterns, ancestry structure, and access to reproductive and preventive health services. ...
Parental consanguinity can increase the risk of selected congenital anomalies, but its population impact depends on local marriage patterns, ancestry structure, and access to reproductive and preventive health services. We compare the prevalence of congenital anomalies in Coro (Falcón State, Venezuela) with other ECLAMC hospitals and to quantify the contribution of parental consanguinity and reproductive/sociodemographic factors to anomalies with excess prevalence in Coro. Hospital-based surveillance data from ECLAMC (2002-2024) were analyzed. Prevalence (per 10,000 births) and 95% confidence intervals were estimated for 40 anomalies among 108,380 births in Coro and 2,177,774 births in other participating hospitals. Anomalies with higher prevalence in Coro were examined using case-control analyses to estimate odds ratios, attributable risk among the exposed, and population attributable risk. To address multiple testing across 40 anomalies, P-values were additionally evaluated using the Benjamini-Hochberg false discovery rate (q = 0.05). Three anomalies showed higher prevalence in Coro: spina bifida (13.7 vs. 9.7 per 10,000), hypospadias (12.0 vs. 8.1), and postaxial polydactyly (30.5 vs. 15.8) (p < 0.01). Parental consanguinity was associated with increased risk of spina bifida and postaxial polydactyly in both settings, with a larger population attributable risk in Coro due to higher exposure frequency. In Coro, multigravidity, reduced prenatal care, and a history of fetal losses were also associated with postaxial polydactyly. Regional differences in congenital anomaly prevalence within ECLAMC partly reflect variation in parental consanguinity and reproductive factors. These findings support the integration of community genetics actions (targeted counseling, risk communication) with congenital anomaly surveillance in higher-consanguinity settings.
Disputing your roots: A multi-platform computational analysis of consumer reactions to genetic ancestry testing.
Behnamian S
J Community Genet · 2026 May · PMID 42213236 · Full text
Direct-to-consumer (DTC) genetic ancestry testing has grown rapidly, yet computational analysis of consumer reactions remains limited. This study presents a cross-platform computational analysis of consumer reactions to...
Direct-to-consumer (DTC) genetic ancestry testing has grown rapidly, yet computational analysis of consumer reactions remains limited. This study presents a cross-platform computational analysis of consumer reactions to ancestry testing across 58,133 posts from Reddit, YouTube, and Google Play. We developed a six-category reaction taxonomy (acceptance, excitement, dispute, surprise, disappointment, identity crisis) and applied natural language processing methods including sentiment analysis, topic modeling, and predictive modeling. Results revealed that acceptance (9.5%) and excitement (9.4%) were most prevalent, followed by dispute (8.6%). Platform differences emerged: Reddit showed highest dispute rates (10.2%), while Google Play exhibited elevated excitement (29.6%). Dispute rates varied substantially by ancestry, with Turkish (23.5%), Greek (19.7%), and Scandinavian (18.5%) ancestries most frequently contested. Among posts containing both self-reported ethnicity and genetic results, concordance was 61.8%, quantifying the discrepancy between social and genetic definitions of ancestry. A logistic regression model predicting dispute expression achieved AUC = 0.79, identifying text length and negative sentiment as key predictors. These findings advance understanding of how consumers engage with genetic ancestry information online, with implications for DTC companies, genetic counselors, and researchers studying the social dimensions of consumer genomics.
51st annual meeting of ICBDSR: data that counts - transforming lives through birth defects surveillance.
Malherbe H, Kalk E, Botto LD … +3 more , Mellado C, Thomas MA, Rissmann A
J Community Genet · 2026 May · PMID 42209935 · Full text
The 51st Annual Meeting of the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR) was held from 2 to 5 November 2025 in Magaliesburg, South Africa. The meeting brought together clinicians, e...
The 51st Annual Meeting of the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR) was held from 2 to 5 November 2025 in Magaliesburg, South Africa. The meeting brought together clinicians, epidemiologists, public health practitioners and researchers from 24 countries to discuss advances in the surveillance, prevention, and management of birth defects. Hosting the meeting in South Africa reflected a strategic effort to strengthen engagement with low- and middle-income countries and to expand African participation in global birth defects surveillance initiatives. Scientific sessions addressed methodological developments in surveillance systems, etiological research, and approaches to improving the interpretation and communication of surveillance data for policy and public health action. Emphasis was placed on strengthening data quality, harmonising case definitions and reporting practices across registries, and building technical capacity in emerging surveillance programmes. Contributions from African researchers highlighted both the challenges and opportunities associated with implementing surveillance in resource-constrained settings. The meeting underscored the importance of international collaboration, inclusive surveillance networks, and effective translation of data into prevention strategies and health system planning. Strengthening global surveillance remains essential for informing prevention efforts and improving outcomes for children and families affected by birth defects.
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