Journal of Community Genetics最新文献

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.

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.

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.

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.

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.

Medical genetics is a rapidly expanding field, and the role of non-geneticist physicians is becoming increasingly important. Our study aimed to understand the attitudes of non-geneticist physicians on implementing clinical genetics in their practice, as well as the knowledge gaps and other barriers that they face.Our survey consisted of an instructive quiz targeting non-geneticists in North America. Previous studies have focused primarily on general practitioners, but we additionally targeted pediatricians, OBGYNs, internists, neurologists, psychiatrists and oncologists.Most participants (73%) were interested in implementing clinical genetics in their practice, although their confidence in doing so was significantly lower than their reported interest (p < 0.001). 63% of our participants wanted additional education prior to mainstreaming, and 37% wanted more collaboration with clinical geneticists. Knowing when to refer a patient to genetics, being able to consent patients for genetic testing, and understanding genetic test results were areas of interest for our participants. Physicians who had sent more than 10 referrals to genetics in the past 24 months scored 12.5% higher in the knowledge questions than participants who had not sent any genetic referrals (p < 0.001). Family doctors had low scores on questions pertaining to first-line genetic tests, and also had the lowest referral rate to genetics (p < 0.001).This study illustrates how our survey can be used as an educational tool for non-geneticists. Moreover, we propose several ways to bridge the knowledge and confidence gaps identified in our study to support non-geneticist physicians in providing clinical genetics care to their patients.

Non-invasive prenatal testing (NIPT) for fetal chromosomal aberrations is an important component of healthcare systems worldwide, albeit with varying diagnostic coverage and conditions of use. In Germany, NIPT primarily focuses on trisomies 21, 18 and 13, for which the test costs are reimbursed by the statutory health insurance after thorough prior counseling. Despite this rather restrictive approach compared to other countries, concerns continue to be raised in Germany that young pregnant women, in particular, who are at a low risk of fetal aneuploidy, may have been overly encouraged to undergo NIPT. However, a decision theory-based analysis of the NIPT uptake figures in Germany suggests that there is currently no evidence that avoiding the birth of a trisomic child is a strong motivation particularly of younger women to take the test. Instead, the nation-wide NIPT uptake figures are exceptionally well in line with the corresponding age-specific prior risks. Notably, no such agreement was found when we considered the Netherlands as an example of a healthcare system where NIPT covers additional chromosomal aberrations without age-dependent risk. Replication of our analysis in other countries will reveal whether a strong consistency between age-specific prior risk and NIPT uptake is unique to Germany, or not.

Stigma is defined as the perception of an undesirable attribute that leads to discrimination against individuals and groups. Stigmatisation is often triggered due to visible physical or cognitive differences. Although the literature consistently highlights the (fear of) stigmatisation as a significant concern among individuals living with hereditary conditions, no studies in Portugal have specifically provided evidence on this issue. This study aims to address this gap by examining the experiences and impact of stigma on individuals and families affected by hereditary diseases in Portugal. After receiving ethics approval, a total of 216 participants, including affected individuals, asymptomatic carriers and family members from families with a range of hereditary conditions, were recruited through patient support associations. Participants completed an online questionnaire via Limesurvey. Data were analysed through Exploratory Factor Analysis (EFA), median comparison tests, and thematic analysis. Of the participants, 78.7% were women, 55.6% had a university degree, and 20.4% were aged between 42 and 47 years. Findings indicate that stigma impacts individuals across various domains, including social interactions, institutional settings, the workplace, and healthcare. EFA identified a bi-factorial model of stigma, comprising Stigma Experiences and Perceived Support subscales, and the overall scale demonstrated high internal consistency (α = .879). Women and younger participants reported higher levels of stigma. Religiosity and humor emerged as key coping strategies. This study is the first in Portugal to assess stigma among individuals living with hereditary conditions. Our findings contributed to validating a measurement instrument, identified sociodemographic variations, and examined the psychosocial dimensions of stigma among affected patients. These findings highlight the need for comprehensive strategies to address and mitigate stigma, improve support systems, and enhance the well-being and healthcare experiences of individuals and families impacted by hereditary diseases.

Background: Genetic counseling is essential for patients and families with genetic disorders, providing accurate information and supporting informed decisions. However, limited access to counseling services in some countries can lead to confusion and anxiety, prompting many to seek information in online communities. This study analyzes user-generated questions from an online community in South Korea to understand the specific information needs of patients and families with genetic disorders.

Methods: This study analyzed 289 questions posted by 122 members on the Naver cafe < All About Genetic Disorders>( https://cafe.naver.com/geneticdx ) between November 27, 2022, and December 23, 2023. Quantitative analysis was performed to identify the types and frequencies of questions, while qualitative analysis examined detailed content.

Results: The most frequently requested information was about disease information (28.4%), followed by genetics knowledge (26.6%), genetic testing (26.3%), and other topics (18.7%). Qualitative analysis revealed that patients and families needed detailed information about long-term progression and symptom manifestation. Many expressed confusion and anxiety regarding the meaning of variants of uncertain significance (VUS) in genetic testing results. They sought real-life patient experiences, in-depth professional informations, and wanted to know how to efficiently find accurate information.

Conclusion: This study demonstrated the importance of providing patients and families with professional and easily understandable information, highlighting the necessity for a well-organized genetic counseling system. To support patients and their families, it is essential to develop patient-friendly online platforms and expand access to genetic counseling services.