Journal of Community Genetics最新文献

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.

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.

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 (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.

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.

We surveyed the preferences of Italian laypersons (n = 609) regarding the communication of genetic risk information to and within families, presenting scenarios about three genetic conditions (Cystic Fibrosis, CF; Hereditary Cancer, HC; and early-onset Alzheimer's disease, AD). We found that almost all of the participants (565/609, 93%) were interested in receiving genetic risk information about at least one of the diseases, and 95% of these also stated they would have genetic testing. Interestingly, 78% of participants in this subset wanted to be informed of their genetic risk and have testing for all the genetic conditions presented in the survey. The main motivating factors were prevention for HC, reproductive responsibility for CF, and life-planning and emotional preparedness for AD, covering a range of elements of clinical, health-related and personal utility. In addition, over a third of our study participants (198/565, 35.0%) indicated that both family members and healthcare professionals are morally responsible for communicating genetic risk information; over a fourth (148/565 26.2%) felt that the responsibility lies with everyone involved: family members, healthcare professionals and also themselves. Findings indicate that bringing into focus individual needs that go beyond medical care may help improve communication about genetic risk and informed choices about genetic testing. Moreover, the Italian public opinion may be open to the possibility of a proactive role for healthcare professionals in disseminating genetic risk information to family members, particularly within the frame of a collaborative effort.

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.

Family history is a strong risk factor for type 2 diabetes (T2D), but few studies have evaluated if parents with T2D understand their child's risk and appropriate prevention strategies. Genetic counseling is an effective intervention to communicate risk for multifactorial disease and provide counseling on management and prevention. This prospective, cross-sectional feasibility study evaluates the impact of a genetic counseling intervention on parental risk perception towards T2D, knowledge of prevention strategies, and implementation of prevention strategies for their at-risk children. Thirty-seven parents with T2D and children between 2 and 11 years old were randomized into an intervention (n = 18) or control (n = 19) group. The intervention group received a structured genetic counseling intervention, which included an educational video, personalized risk assessment, and discussion of prevention strategies. Surveys measuring risk perception, knowledge of prevention strategies, patient empowerment, and health behaviors were administered pre-intervention and at one-month post-intervention for both groups. At one-month post-intervention, the intervention group demonstrated a statistically significant increase in risk knowledge (p = 0.0185) and higher engagement in monitoring child-specific dietary behaviors (p = 0.0334) compared to the control group while changes in overall risk perception, knowledge of prevention strategies, and family dietary habits were not significant. This study demonstrates that genetic counseling could be an effective method to increase parental risk knowledge and engagement in child-specific preventive behaviors for T2D. Findings from this study's unique population of diverse parents with young, healthy children who have yet to develop modifiable risk factors for T2D could provide insight for developing targeted prevention programs.

This study evaluates the readability and understandability of online resources on biotinidase deficiency, a metabolic disorder included in newborn screening programs. The aim is to determine whether these materials meet health literacy standards. Fifty online documents were initially identified via Google searches using "biotinidase deficiency." After excluding academic articles, duplicates, and inaccessible resources, 21 documents were analyzed. They were categorized as non-profit (hosted on domains such as .org, .gov, or .edu, representing public institutions and academic organizations)(13) or private (hosted on commercial domains like .com, often linked to medical facilities) (8) based on domain extensions. Readability was assessed using Readable.io, providing Flesch Reading Ease scores and Flesch-Kincaid Grade Level. The Patient Education Materials Assessment Tool (PEMAT) was used to evaluate understandability and actionability, with scores averaged by four reviewers. Statistical analyses compared group differences. Private articles showed markedly higher Flesch-Kincaid Grade Level scores, referring to higher reading difficulty, in contrast to non-profit articles (mean ± SD: 13.9 ± 2.2 vs. 10.7 ± 2.0; p = 0.002).There was no statistically significant difference in PEMAT understanding (U) scores between private and non-profit articles (mean ± SD: 52.0 ± 10.5 vs. 42.3 ± 11.4; p = 0.060) or actionability (A) scores (mean ± SD: 29.1 ± 20.0 vs. 13.4 ± 18.0; p = 0.063). Furthermore, articles classified as having lower readability levels (D and E) exhibited markedly reduced actionability scores compared to those with higher readability levels (A to C), indicating a correlation between text complexity and practical use. The recommended health literacy standards for biotinidase deficiency are not met by most online sources. In particular, materials that are difficult to read are less applicable and of limited benefit to parents or caregivers. Given that such readers are expected to take important actions such as conducting screenings or consulting healthcare professionals, the importance of making these materials more appropriate is significant. These findings highlight the importance of patient-centered, clear, and actionable health communication, particularly for conditions identified in newborn screening programmes.

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.