Journal Of Community Genetics[JOURNAL]
Sun
200 papers
Integration of medical genetics and genomics into faculty development programs in india: assessment of success and experience of genetic research centre.
Joseph S, Minde N, Babu S … +10 more , Gawde H, Naik C, Bhanothu V, Sudhakar D, Bharankar J, Agarbattiwala T, Kumar A, Sachdeva G, Mahale SD, Pande S
J Community Genet · 2026 Jan · PMID 41586983 · Full text
Genetic diagnosis in a plethora of conditions is useful in clinical management of individuals and their families. The clinicians need to understand the underlying genetic etiology in undiagnosed cases to determine the ap...
Genetic diagnosis in a plethora of conditions is useful in clinical management of individuals and their families. The clinicians need to understand the underlying genetic etiology in undiagnosed cases to determine the appropriate clinical management. Lack of understanding and training in the different aspects of medical genetics is one of the major deterrents for efficient genetic evaluations in several cases in clinical practice. To address this issue, the Genetic Research Center initiated a one-month detailed training course for clinicians on various aspects of genetics to strengthen their clinical skills and capabilities for efficient genetic diagnosis. In the last five years, through annual workshops conducted by the center, 128 medical practitioners were trained. The information collected through written communication from the participants has been summarized. This report presents perceptions of participants about the need of the training course, feedback from the participants about this course and outcomes of the training course. This analysis supports the need for adequate training for medical professionals and further highlighted the benefits of such training programs in active patient management and for initiating research activities focused on understanding the underlying genetic etiology in several cases.
The impacts of pricing and reimbursement policies on access to cell and gene therapies across Europe.
Han Y, Andreoletti M, Minssen T … +2 more , Vayena E, Ormond KE
J Community Genet · 2026 Jan · PMID 41582289 · Full text
The increasing number of expensive cell- and gene-based therapies (CGT) on the market have raised concerns regarding equal patient access, regarding both affordability and timely access. Health Technology Assessments (HT...
The increasing number of expensive cell- and gene-based therapies (CGT) on the market have raised concerns regarding equal patient access, regarding both affordability and timely access. Health Technology Assessments (HTA) and Managed Entry Agreements (MEA) play a pivotal role in pricing and reimbursement (P&R) decisions for expensive drugs in Europe, aiming to ensure patient access while optimizing resource allocation. However, discrepancies in HTA and P&R processes lead to delayed, unequal or lack of access in different countries, exacerbating health inequalities across Europe. Though they facilitate access, MEAs introduce additional delays in pricing and reimbursement discussions, and their lack of transparency increases administrative burden and encourages pricing inequity, negatively affecting healthcare system sustainability. Recent legislative changes under Regulation (EU) 2021/2282 have established the Health Technology Assessment Coordination Group (HTACG), which will oversee mandatory joint clinical assessments in the coming years. This new legislation aims to streamline HTA processes across the EU. To address the ethical imperative of improving access equality for CGT in Europe, we propose further policy reforms including concurrent HTA, early benefit assessment, and incorporation of additional elements of value in HTA evaluations, alongside current initiatives to increase cross-border collaboration.
Young adult perspectives regarding receiving medically actionable gene testing results for newborns: A qualitative investigation.
Martinez D, Madhiri E, Li M … +4 more , Wang H, Meng X, Wade CH, Chen LS
J Community Genet · 2026 Jan · PMID 41582247 · Full text
In the United States, standard newborn screening identifies medically treatable conditions in about 1 in 300 newborns. The integration of whole genome sequencing (WGS) into newborn screening programs has the potential to...
In the United States, standard newborn screening identifies medically treatable conditions in about 1 in 300 newborns. The integration of whole genome sequencing (WGS) into newborn screening programs has the potential to identify a wide variety of medically actionable conditions. Yet, some scholars caution about disclosing medically actionable genes (MAGs) of children to their parents. Given that young adults are future parents, understanding their views on receiving MAGs results for newborns is as important as they are currently poorly understood. To address this gap, we explored young adult perspectives toward receiving MAGs results from WGS for their newborns. We conducted semi-structured individual interviews with 58 young adults, which were audio-recorded, transcribed verbatim, and analyzed using an inductive content analysis approach. Most participants expressed a willingness to receive MAG results, citing prevention of future diseases and parental responsibility as key motivators. A few participants were unwilling to receiving MAGs results, primarily due to the worries that the results would overwhelm parents and cause stress and anxiety, their concerns about the young age of their newborn, and a perceived lack of necessity. The findings of this study expand the limited research in WGS and informs policy discussions surrounding the returning of MAGs results as an aspect of WGS-based newborn screening programs. Although the majority of young adults reported favorable attitudes about receiving MAGs results, some concerns raised should be considered in the development of policies for implementing WGS in newborn screening programs.
The effect of sample type on genetic testing completion in pediatric congenital hearing loss patients.
Adams B, Lichten L, Heyward A … +1 more , Govil N
J Community Genet · 2026 Jan · PMID 41578117 · Full text
Congenital pediatric hearing loss can be linked to a genetic cause in about 60% of cases. Genetic testing (GT) for this condition can be complicated by the availability of blood draw services and the patient's amenabilit...
Congenital pediatric hearing loss can be linked to a genetic cause in about 60% of cases. Genetic testing (GT) for this condition can be complicated by the availability of blood draw services and the patient's amenability to this procedure. The primary objective of this study was to assess whether GT sample collection method influences the percentage of completed tests in pediatric patients with congenital, non-syndromic sensorineural hearing loss. This was a retrospective chart review of patients at a tertiary pediatric otolaryngology clinic who had GT ordered through blood draw from May 2022-April 2023 and patients who had GT ordered through buccal swab from June 2023-May 2024. Patients were offered a testing method based on availability at our institution during the time period studied. The primary endpoint was completion of GT. Additional data collected included demographic patient characteristics, average turnaround time for GT completion, and GT results. Each cohort had a GT completion percentage of approximately 93%. Almost twice as many patients had GT ordered via buccal swab (148/227) than blood sample (79/227: p < 0.05). There was no difference in GT results between cohorts. The observed similarities in GT completion of the cohorts in this study suggests that barriers to GT completion may not be the sample type alone, but rather a more complex set of factors that may affect family decision-making.
Genetic counselors' perspectives on the expanded use of non-invasive prenatal testing.
Levkova M, Yaneva A
J Community Genet · 2026 Jan · PMID 41569497 · Full text
Non-invasive prenatal testing (NIPT) is well established for detecting common autosomal aneuploidies. Its application to sex chromosome aneuploidies (SCAs), microdeletion/microduplication syndromes (MMSs), and single-gen...
Non-invasive prenatal testing (NIPT) is well established for detecting common autosomal aneuploidies. Its application to sex chromosome aneuploidies (SCAs), microdeletion/microduplication syndromes (MMSs), and single-gene disorders (SGDs) is expanding, yet opinions of genetic counselors on these indications remain variable. A cross-sectional web-based survey was conducted between October and December 2024 among 51 practicing genetic counselors across 14 countries. The 18-item questionnaire assessed perceived utility, analytic accuracy, and clinical appropriateness of NIPT for SCAs, MMSs, and SGDs. Responses were summarized using descriptive statistics, and ordinal logistic regression evaluated associations with demographic factors. Perceived utility was highest for SCAs (86% agreement), followed by SGDs (80%) and MMSs (67%). Confidence in test accuracy was lower, particularly for MMSs (55%). Routine use of NIPT for SCAs was supported by 88% of respondents. For SGDs, 47% endorsed routine use, while 45% recommended use only in specific contexts. Professional experience significantly predicted willingness to recommend NIPT for SGDs (OR = 1.15 per year, p = 0.017), independent of age or sex. Genetic counselors strongly support SCA screening and show conditional enthusiasm toward MMS and SGD testing. Experience-driven variation highlights the need for continued education, stronger validation data, and targeted policy development.
Preparedness for working with genomic medicine among Swedish non-genetics physicians - a nation-wide survey study.
Björk J, Friedman M, Nisselle A … +2 more , Malmgren CI, Soller MJ
J Community Genet · 2026 Jan · PMID 41537916 · Full text
The mainstreaming of genomic medicine requires that non-genetics physicians take on responsibility for genomic medicine tasks. However, previous studies indicate that physicians without formal competence in genetics ofte...
The mainstreaming of genomic medicine requires that non-genetics physicians take on responsibility for genomic medicine tasks. However, previous studies indicate that physicians without formal competence in genetics often lack the experience, knowledge and means to do so. This study assessed the current practice of genomic medicine among Swedish non-genetics physicians (n = 133) using a survey designed by McClaren et al. (McClaren et al. 2020). 67.7% of respondents had been in contact with their regional genetics services during the last year, a majority of which having been so at least monthly. Somewhat fewer, 57.1%, had ordered a gene panel, exome or whole genome during the last year. About a third reported that financing can be a barrier to ordering tests. Only 37.6% reported feeling sufficiently prepared for working with genomic medicine in general, with greatest confidence levels found for taking the medical history. Only a third of participants expected that further developments within genomic medicine will affect their own ways of working. In comparison with previous Australian and UK studies using the same survey, Swedish physicians have more contact with regional genetics services, whereas proportions ordering tests and feeling sufficiently prepared for working with genomic medicine are comparable. Interestingly, Swedish physicians seem less prepared to take on increased responsibilities for genomic medicine than their international peers. We encourage researchers in other countries to use the same survey to allow for further international comparisons to inform policy.
Addressing genetic discrimination and its stigmatizing effects through human rights.
Rud A, Porter E, Joly Y … +1 more , Uberoi D
J Community Genet · 2026 Jan · PMID 41483444 · Full text
Genetic stigma and resulting discrimination are multifaceted concerns that impact people's willingness to undergo genetic testing, contributing to disproportionately adverse health outcomes for marginalized communities....
Genetic stigma and resulting discrimination are multifaceted concerns that impact people's willingness to undergo genetic testing, contributing to disproportionately adverse health outcomes for marginalized communities. While concerns of genetic discrimination (GD) manifest across multiple demographics, they are particularly prevalent amongst certain groups where previous experiences of discrimination can propagate complex stigmas. To address these concerns, countries worldwide have enacted genetic non-discrimination laws. However, while laws like Canada's Genetic Non-Discrimination Act have highlighted the need to prevent GD, they often treat instances of GD as isolated events, failing to account for the systemic inequities that lead to disparate rates of GD across particular communities. This paper argues that a human rights approach can better address how GD intersects with other forms of marginalization, providing a more holistic approach to combat the stigmatic effects of GD.
Strategies to build trustworthiness and increase diversity in colorectal cancer biospecimen research: a multi-phase, multi-site qualitative study.
Roybal KL, Nava-Coulter B, Roberts J … +13 more , Harden D, Castro S, Revette A, Connolly M, Johnson G, Rountree JA, Brodney S, Schoolcraft K, Drew DA, May FP, Haas JS, Warner ET, Wendt SJ
J Community Genet · 2026 Jan · PMID 41483113 · Full text
BACKGROUND: Black, Latino, and American Indian individuals are underrepresented in biospecimen research. Obtaining biospecimens from these populations is particularly relevant for understanding, preventing, and treating...
BACKGROUND: Black, Latino, and American Indian individuals are underrepresented in biospecimen research. Obtaining biospecimens from these populations is particularly relevant for understanding, preventing, and treating colorectal cancer and translating those insights to eliminate persistent racial and ethnic inequities in colorectal cancer. The aim of this qualitative study was to identify information needs and culturally appropriate approaches to biorepository recruitment among Black, Latino, and American Indian patients and community members. METHODS: We used a multi-phase, multi-site design that included key informant interviews and focus groups with patients and community members in Los Angeles, Boston, and South Dakota. We analyzed interview data using rapid qualitative analysis and focus group data using reflexive thematic analysis. RESULTS: We interviewed 10 keys informants with expertise in the recruitment of racially and ethnically diverse participants into biospecimen research and facilitated 21 focus groups with a 101 patients and community members who identified as Black, Latino, or American Indian. We generated six themes from our analyses that we organized into a best practices framework for building trustworthiness and increasing diversity in biospecimen research: (1) cultural responsiveness and inclusivity; (2) community-based partnerships; (3) convenience and accessibility; (4) meaningful and compelling purpose; (5) mindful incentives; and (6) trusted messengers and information sharing. DISCUSSION: Our findings provide insight into the factors that influence Black, Latino, and American Indian individuals' decisions to participate in biorepositories. The best practices framework developed from this study presents actionable strategies researchers can adopt to build trustworthiness and increase diversity in colorectal cancer biospecimen research.
Barriers and facilitators of cancer genetic risk screening at community-based organizations serving Latinas.
Ortega B, Huq MR, Sedeño-Delgado D … +22 more , Barajas C, Gómez-Trillos S, Curran G, Graves KD, Sheppard VB, Schwartz MD, Peshkin BN, Campos C, Valencia-Rojas N, Hernández G, Garces N, Dash C, O'Neill S, Logie LA, Jimenez A, Mills M, Roig BV, Villa A, Alvarado K, Cupertino P, Carrera P, Hurtado-de-Mendoza A
J Community Genet · 2025 Dec · PMID 41400785 · Full text
Cancer genetic counseling and testing is potentially lifesaving for individuals at risk of hereditary cancers. Yet, it is severely underutilized among under-resourced Latinas. There has been limited examination of implem...
Cancer genetic counseling and testing is potentially lifesaving for individuals at risk of hereditary cancers. Yet, it is severely underutilized among under-resourced Latinas. There has been limited examination of implementing cancer genetic risk screening-the first step of cancer genetic counseling and testing -via community-based organizations (CBOs) serving Latinas. This project explored multilevel barriers and facilitators to implementing cancer genetic risk screening among four CBOs serving Latinas in the Washington DC-Virginia area. We conducted four focus groups with 26 staff at CBOs that implemented a genetic risk screener from January-September 2021. We employed template analysis and a modified Consolidated Framework for Implementation Research (CFIR)-consisting of CFIR's original five domains (Process, Intervention, Inner Setting, Outer Setting, Characteristics of Individuals) and CFIR 2.0's Adapting construct and a lens emphasizing Health Equity across all domains - to identify barriers and facilitators to implementation. CBOs administered the risk screener to 789 Latinas. A prominent Process barrier was not having the optimal data management system for screening. CBO staff preferred the Intervention (i.e. the screener) over previous family history data collection. Adapting the screener to organizational infrastructure and patient-level health literacy and cultural responsiveness barriers were facilitators. Lack of Inner Setting staff time to conduct screening was a barrier. Stronger systems of CBOs' Outer Setting partnerships facilitated screening. Characteristics of Individuals that promoted GCT screening was CBO staff knowledge, beliefs, and self-efficacy towards risk screening. Provided that key barriers are addressed and facilitators are leveraged during implementation, genetic risk screening may potentially be feasible and acceptable even across heterogeneous CBOs. Future research evaluating feasibility and acceptability of genetic risk screening in CBOs is needed.
Case-based genomics education and training of neurologists: an Egyptian initiative.
Hamed SA, ElHadad AF, Fawzy M
J Community Genet · 2025 Dec · PMID 41400739 · Full text
Many physicians lack confidence in providing genetic services to patients due to a lack of genetic/genomic knowledge. The study aimed to develop and implement a genomic education and training program for neurologists, a...
Many physicians lack confidence in providing genetic services to patients due to a lack of genetic/genomic knowledge. The study aimed to develop and implement a genomic education and training program for neurologists, a real initiative activity. The program consisted of three steps: (1) conducting an exploratory survey to identify knowledge gaps, attitudes, and concerns related to medical genetics/genomics in practical settings. (2) Designing the framework and implementing the national initiative program. (3) Preliminary evaluation of the program outcomes. The program was conducted as part of postgraduate education at a university hospital. Survey responses (42.5%) indicated that many neurologists expressed the importance of genomic medicine but lacked confidence in applying genomic tests in practice and addressing patient questions about genetic diseases. They expressed a preference for face-to-face learning, including case discussions and interpretation of genetic test results. The initiative comprised seven courses conducted over 24 months, with a total of 42 regular meetings. It involved three academic consultant neurologists as expert educators and 45 junior neurologists as trainees. Case discussions and interpretation of authentic genomic results were conducted for 46 patients. Evaluation of the initiative by trainees was promising. Neurologists reported increased genomic knowledge and felt more comfortable referring patients for genetic testing after receiving guidance from expert peers. Findings indicate that neurologists seek scalable and ongoing genomic education and training tailored to their field. Face-to-face, case-based learning led by expert educators in genomics, focusing on neurology, appears to be the most effective approach to address gaps in genomic education and training.
Implementing genetics clinic for hereditary cancer in resource-constrained settings: a narrative review.
Rungta A, Kapoor A, Redkar G … +9 more , Kapoor AR, Mishra BK, Gupta A, Sansar B, Kumar A, Chowdhury Z, Patne S, Pradhan S, Sarin R
J Community Genet · 2025 Dec · PMID 41396228 · Full text
BACKGROUND: Hereditary cancer syndromes, driven by pathogenic germline mutations such as those in BRCA1 and BRCA2 and mismatch repair genes, represent a critical but under-addressed frontier in cancer care in low- and mi...
BACKGROUND: Hereditary cancer syndromes, driven by pathogenic germline mutations such as those in BRCA1 and BRCA2 and mismatch repair genes, represent a critical but under-addressed frontier in cancer care in low- and middle-income countries (LMICs), including India. Genetic clinics-multidisciplinary platforms offering counselling, testing, and cascade screening-have emerged globally as foundational to precision oncology. However, their implementation in resource-constrained settings remains highly uneven, hindered by infrastructural gaps, socioeconomic barriers, and sociocultural complexities. OBJECTIVE: This narrative review critically synthesises the implementation landscape of genetics clinic for hereditary cancer care, with India as a contextual case. It offers actionable strategies for scaling equitable genetic services in low-resource settings. METHODS: A targeted literature search was conducted, supplemented by policy documents and global guidelines (ASCO, IARC, WHO). Thirty-one empirical studies were reviewed. Studies were selected based on relevance to cancer genetics service delivery in clinical or public health settings, particularly in low-resource environments. A thematic synthesis approach was used to distil evidence across six domains: clinical value, operational frameworks, barriers to access, ethical and cultural challenges, public engagement, and delivery innovations. RESULTS: Genetics clinic demonstrate significant clinical and preventive impact through risk stratification, targeted therapy, and cascade testing. However, integration into routine care in LMICs is constrained by limited workforce capacity, poor awareness, financial inaccessibility, and weak policy frameworks. Ethical concerns-such as inadequate informed consent and fear of genetic discrimination-compound these barriers. Promising delivery models include tele-genetic counselling, mobile clinics, and decentralised integration into existing oncology services. Effective strategies combine institutional partnerships, legal safeguards, and culturally contextualised communication. CONCLUSION: Genetics clinic hold transformative potential for hereditary cancer care in resource-limited settings. Achieving equitable implementation requires a locally adapted, ethically grounded, and policy-integrated approach. Investments in training, infrastructure, public education, and governance must align with community needs to enable sustainable genomic integration in LMIC health systems.
Midwives 'views of parents' questions and expectations on prenatal genetic testing - identifying informational needs in prenatal genetic counselling.
Åkerman L, Soller MJ, Malmgren CI
J Community Genet · 2025 Dec · PMID 41389232 · Full text
Autonomy and informed decision making are important aspects for prenatal genetic screening and diagnostics. Midwives' knowledge and skills are essential to provide adequate information about prenatal testing to expecting...
Autonomy and informed decision making are important aspects for prenatal genetic screening and diagnostics. Midwives' knowledge and skills are essential to provide adequate information about prenatal testing to expecting parents to enable informed decisions. Information from midwives to parents about prenatal genetic testing has been found to not always be adequate, and parents' needs not always understood. As new methods are introduced, the scope of analysis is widening. In order to achieve informed decision-making, it is important to understand the questions and expectations midwives meet from expecting parents. This study explores the questions and expectations midwives meet from expecting parents regarding prenatal genetic testing, and how uncertainties are perceived and valued. A questionnaire was distributed through a midwife with a national coordinating role, to all midwives in primary maternity care and to the 8 ultrasonography clinics in the Stockholm region, as well as to midwives across Sweden via regional coordination midwives. The responding midwives (N = 71) represented different health care regions in Sweden, working both in primary maternity healthcare and as ultrasonography specialists. Midwives were found to perceive an increased number of questions about noninvasive prenatal testing (NIPT) but a proportion of midwives are not completely confident to answer these questions. Midwives get questions about trisomy 21, other trisomies and sex chromosome abnormalities, but also neuropsychiatric conditions. Methods for invasive, diagnostic testing do not seem to be discussed when accepting offer of initial screening. Midwives are aware of uncertain and secondary findings, but fewer have discussed this with parents. Continuing education and support for midwives is essential - and should put additional focus on developing understanding around established methods like NIPT, but also on more comprehensive genomic test methods such as microarray and massive parallel sequencing techniques as well as challenges around discussing conditions tested for and test results, including uncertain results and secondary findings, with expecting parents.
Epidemiological and clinical profile of sickle cell disease in a series of Moroccan children.
Arbai K, Alaoui Ismaili FZ, Zian Z … +7 more , El Bali M, Mansour C, Lhoussni A, Belahsen S, Ghailani Nourouti N, Barakat A, Bennani Mechita M
J Community Genet · 2025 Dec · PMID 41329390 · Full text
Sickle cell disease (SCD) is the most common genetic disorder worldwide, caused by abnormal hemoglobin (HbS) in red blood cells (RBC), leading to severe life-threatening complications. This study aimed to describe the ep...
Sickle cell disease (SCD) is the most common genetic disorder worldwide, caused by abnormal hemoglobin (HbS) in red blood cells (RBC), leading to severe life-threatening complications. This study aimed to describe the epidemiological and clinical characteristics of SCD among Moroccan children. A prospective descriptive study was conducted at the Provincial Hospital Center of Larache from March 2023 to March 2024. Medical data were collected from medical records and interviews with the children's parents or legal guardians. The study included 194 Moroccan children (97 SCD patients and 97 healthy controls). Among SCD patients, the mean age was 7.59 ± 3.39 years, with a female predominance (58.76%). Most patients (77.3%) resided in rural areas, and 54.6% reported parental consanguinity. Cluster analysis identified three clinical profiles : mild chronic anemia, recurrent vaso-occlusive crises (VOC) with chronic pain, and acute severe anemia with infections. Jaundice and fever were more frequent in the acute anemia group (p < 0.001 and p = 0.02), while musculoskeletal pain predominated in the VOC cluster (59.5%, p = 0.013). Hematological parameters revealed a significant decrease in RBC count (p = 0.003) and mean corpuscular hemoglobin (p = 0.027) in SCD patients. Higher fetal hemoglobin levels were protective against acute complications (OR = 0.58, p = 0.044) and reduced transfusion needs (p = 0.011). Our findings highlight the persistent burden of SCD in the studied region of Morocco, requiring effective nationwide management strategies focused on awareness campaigns, therapeutic education, genetic counseling, and screening programs to improve patient outcomes.
Unveiling adult sickle cell disease challenges in India: a scoping review of screening, treatment, and management.
Bhattacharjee S, Begum J, Ali SI … +1 more , Shetty RS
J Community Genet · 2025 Nov · PMID 41288828 · Full text
Sickle Cell Disease (SCD) presents a major public health burden in India, particularly among tribal communities. This scoping review synthesizes evidence from the past decade to identify a few key challenges in the scree...
Sickle Cell Disease (SCD) presents a major public health burden in India, particularly among tribal communities. This scoping review synthesizes evidence from the past decade to identify a few key challenges in the screening, treatment, and management of SCD. Initially, 219 studies were screened, and 26 studies met the inclusion criteria. Thematic analysis revealed systemic obstacles across all domains. Screening efforts are hindered by inadequate infrastructure, low awareness, stigma, and inconsistent coverage, especially in remote regions. Treatment barriers include poor access to hydroxyurea, lack of trained providers, and reliance on traditional medicine due to cost and accessibility. Management is further complicated by irregular follow-up, weak referral systems, limited community engagement, and socio-economic constraints. Despite national initiatives, fragmented implementation and the absence of culturally sensitive, data-driven strategies have curtailed impact. This review highlights the urgent need for policy reforms focused on improving diagnostics, expanding community-based care, strengthening healthcare workforce capacity, and integrating digital health systems. A holistic, community-centered, and equity-driven approach is essential to address persistent gaps and improve outcomes for adults living with SCD in India.
Analyzing accessibility and suitability of online Krabbe disease resources.
Zieber M, Weaver WC, Felter E … +3 more , Brackbill L, Rajan D, Durst A
J Community Genet · 2025 Nov · PMID 41269408 · Full text
The impact of rare diseases, like Krabbe disease (KD), collectively affecting millions worldwide, is a public health genetics issue. Because disparities in management and prognosis are often associated with health litera...
The impact of rare diseases, like Krabbe disease (KD), collectively affecting millions worldwide, is a public health genetics issue. Because disparities in management and prognosis are often associated with health literacy levels, patient education materials (PEMs) must be accessible to parents who frequent the internet to learn about diagnoses and follow-up. This study aimed to assess accessibility and suitability of online KD resources, using results to provide recommendations for resource improvement.A Google search was conducted utilizing common search terms to identify patient-centered KD resources. Resource content was compared against an author-developed list of essential information for families. Reviewers assessed readability, using Flesch-Kincaid (FK) and Simple Measure of Gobbledygook (SMOG) formulas, and suitability utilizing the Suitability Assessment of Materials (SAM) Tool and the Patient Education Materials Assessment Tool (PEMAT).All resources included a description, symptoms, and genetics of KD. Four resources discussed genetic counseling; two mentioned next steps. Most resources (10/12) had readability scores above the recommended sixth to eighth grade levels for PEMs. The average FK and SMOG scores were 10.6 and 12.5, respectively. Eleven of twelve resources rated 'adequate' or higher using the SAM Tool. PEMAT understandability and actionability scores ranged from 55.1% to 94.1% and 0% to83.3%, respectively, due to lack of graphics and interactivity. No resource met all criteria.Although easy to navigate, resources struggled using clear, common language, utilizing graphics appropriately, promoting interactivity, and presenting concrete next steps. Resource development should focus on implementing post-diagnosis action steps and improving understanding by using common terminology and graphics to promote better care of individuals with KD.
Parental decision making regarding level of newborn screening participation in the homebirth setting.
Platt D, Ikenberry M, Loman B
J Community Genet · 2025 Nov · PMID 41264196 · Full text
Newborn screening (NBS) is a public health initiative (PHI) that identifies newborns with critical health conditions or deafness, allowing for intervention or life-saving treatments. Information regarding NBS education f...
Newborn screening (NBS) is a public health initiative (PHI) that identifies newborns with critical health conditions or deafness, allowing for intervention or life-saving treatments. Information regarding NBS education following homebirths is limited. We sought to understand homebirth parents' NBS experiences. Interview participants were recruited from Facebook through a screening questionnaire. An interpretivist paradigm was employed through narrative analysis, deriving themes from the life-experiences of homebirth clients about provision/abnegation from NBS. Five domains were identified after reading transcripts and appreciating common interviewee experiences. Subsequently, interviews were inductively double coded to highlight subthemes classified into each narrative domain. The narrative domains are: Birth Setting, Birth Plan, NBS, Misconceptions, and Education. Birth Setting highlights themes impacting both hospital and homebirth settings. Decisions about subsequent birth setting were influenced frequently by themes classified within narrative domains of Birth Plan and NBS. Finally, client stories highlight a reported desire for greater Education. This need is also apparent due to the presence of Misconceptions regarding NBS. All five narrative domains are interdependent with aspects of each impacting client perceptions and actions within other domains. Misconceptions breed mistrust; fostering greater psychological safety through comprehensive consent discussions- exploring client goals and understanding -may increase trust in PHIs. Consent should focus on the purpose and abilities of NBS; thus, reducing risk perception and enhancing understanding of its benefits in both homebirth and hospital settings. Paired written and oral communication, multidisciplinary care leveraging genetic counselors, and focused continuing medical education for midwives and prenatal providers may further improve NBS.
Polygenic risk scores in routine genetic diagnostics: what lies ahead?
Lauffer P, van Weelden W, van Haelst MM … +1 more , Jansen PR
J Community Genet · 2025 Nov · PMID 41264187 · Full text
Polygenic risk scores (PRS) have emerged as a potential tool for predicting complex genetic traits and disorders, which may complement traditional rare variant testing. As genome-wide association studies (GWAS) expand, P...
Polygenic risk scores (PRS) have emerged as a potential tool for predicting complex genetic traits and disorders, which may complement traditional rare variant testing. As genome-wide association studies (GWAS) expand, PRS predictive accuracy improves, yet its role in clinical genetics remains undefined. Here, we discuss four scenarios for PRS integration into diagnostic workflows: (1) PRS as a first-tier screen to stratify patients for rare variant testing; (2) parallel testing with whole-genome sequencing (WGS) to capture both rare and common variant contributions; (3) selection between PRS and rare variant testing guided by clinical characteristics; and (4) PRS application in rare variant-negative cases to identify likely polygenic etiologies. We highlight different trade-offs of each approach, which include costs, turnaround time, diagnostic efficiency, and risk of secondary findings. While PRS shows promise in conditions with both monogenic and polygenic contributions, challenges remain in defining risk thresholds, equal accuracy across (non-European) ancestries, and integrating PRS into clinical decision-making. Although not yet standard practice, we envision PRS is likely to play an increasing role in genetic diagnostics, necessitating collaboration between clinicians and laboratory geneticists to optimize its application.
Genetic exceptionalism and genomic contextualism among Asian Americans: a qualitative study.
Huang SD, Martschenko D, Scherer CR … +3 more , Chiang KF, Chang K, Naik H
J Community Genet · 2025 Nov · PMID 41252082 · Full text
Views on genetic information - and how it compares to other health information - play a key role in shaping policy surrounding its treatment, management, and communication. Genetic exceptionalism and genomic contextualis...
Views on genetic information - and how it compares to other health information - play a key role in shaping policy surrounding its treatment, management, and communication. Genetic exceptionalism and genomic contextualism are important frameworks to better understand how communities view genetic information in comparison to other medical data. This study aimed to explore how Asian Americans view genetic information and what factors influence their views. Using a qualitative study design guided by reflexive thematic analysis, we interviewed 20 ostensibly healthy Asian American adults about their attitudes toward and experiences with genetic information. We developed four themes: first, participants discussed diverse potential uses and qualities of genetic information that distinguished it from other types of health information, such as providing insight into future health conditions. However, they underscored the continued importance of other types of health information depending on context, and did not view genetic information as deterministic or the essence, giving weight to environmental contributors in molding who they are. Views on genetic information were shaped by complex, interacting factors at individual, family, and community or cultural levels, such as stigma, intersectional identities, and family dynamics. Participants had overall limited awareness of clinical genetics services and indications genetic testing could be offered for, despite high self-reported health literacy. Our participants' views on genetic information were complex and context-dependent, in line with genomic contextualism. This should be considered in providing culturally-engaged genetics education and developing genomics policies that reflect how diverse communities truly feel about genetic information.
The segmentation of the Argentine healthcare system in the care of patients with epidermolysis bullosa: challenges and proposals for a comprehensive model.
Martínez-Ripoll JM, de la Fuente Robles Y, García-Domingo M
J Community Genet · 2025 Nov · PMID 41251952 · Full text
Epidermolysis bullosa is a rare genetic disorder characterized by extreme mucocutaneous fragility. The healthcare coverage in Argentina is divided into the public sector, social security, and the private sector. This stu...
Epidermolysis bullosa is a rare genetic disorder characterized by extreme mucocutaneous fragility. The healthcare coverage in Argentina is divided into the public sector, social security, and the private sector. This study examines how this segmentation affects the socio-healthcare management of patients with EB, identifying barriers and challenges. A descriptive phenomenological qualitative design was employed. The sample included 91 participants: parents of minors with EB (n = 54), adults with EB (n = 26), and socio-healthcare professionals (n = 11). Data were collected through semi-structured interviews and open-ended online surveys. A reflexive thematic analysis was conducted using ATLAS.ti software. Health system segmentation negatively impacts the care of individuals with EB, alongside other factors such as deficient interdisciplinary coordination, the lack of protocols for transitioning from pediatric to adult care, centralization and scarcity of specialized services, and significant disparities in access to wound-care products and treatments. Healthcare inequities exacerbate the vulnerability of individuals with EB and their families. The disparities in socio-healthcare access for individuals with EB in Argentina are closely linked to the segmentation of the healthcare system. While the National Program for Rare Diseases represents progress, there remains an urgent need to implement a national plan that ensures equitable access to treatment, interdisciplinary teams, and specialized training.
Genetic knowledge and attitudes toward genomics across academic disciplines, a cross-sectional survey of university students in Samborondón, greater Guayaquil, Ecuador.
Caiminagua DBB, Villegas JL, Larrea-Álvarez CM … +3 more , Pincay NMM, Šefcová MA, Larrea-Álvarez M
J Community Genet · 2025 Nov · PMID 41251947 · Full text
Advances in genetics and genomics have enabled personalized medicine, requiring genetic knowledge among professionals and the public to adequately interpret results. Evaluating university students' knowledge and attitude...
Advances in genetics and genomics have enabled personalized medicine, requiring genetic knowledge among professionals and the public to adequately interpret results. Evaluating university students' knowledge and attitudes about genetics and genomics is crucial, as this key demographic can influence public health outcomes. This cross-sectional study utilized the Public Understanding and Attitudes towards Genetics and Genomics (PUGGS) questionnaire, including demographics, knowledge about gene-environment interactions and modern genetics and genomics, and attitudes concerning gene therapy and genetic testing. Participants were selected using the convenience sampling method. Surveys were completed by 776 students from diverse academic disciplines enrolled at two universities in Greater Guayaquil, Ecuador. The median number of correct responses was 9/19 (49%) for the total cohort indicating an intermediate level of genetic knowledge, with healthcare students scoring slightly higher than those in engineering and social sciences. While participants showed strong comprehension of gene-environment interactions and gene regulation, their grasp of epigenetic concepts was weaker. Although attitudes toward genetic testing were generally positive, reservations emerged regarding human genetic enhancement and alterations to natural genetic structures, particularly among social science students. The identified gaps in knowledge and perceptions highlight opportunities for educational interventions. Future studies should track long-term progress and evaluate courses modernizing outdated concepts, clarifying genome structure, and exploring gene therapy ethics.
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