Journal of Community Genetics最新文献

Rare diseases (RD) are individually rare, although encompass a significant proportion of the population, affecting not only the individuals but also their families. In Brazil RD is defined by the Ministry of Health as a disorder that affects up to 65 individuals in 100,000, or 1.3 individuals in every 2,000. In this review the environment that led to the publication of a National Policy for Comprehensive Care for People of Rare Disease in 2014, a national plan with the aim to decrease morbidity and mortality of RD, improving the care of people with RD in the public health system are described. The process that finally led to such policy took over a decade, moving forward not only due to technical needs, but having patient organizations as essential actors and advocates. Specialized centers in RD were licensed and, since its publication, 33 centers have been accredited; such process, however, has been slow and concentrated in specific regions and larger cities of the country. Despite the incorporation of genetic tests in 2014 and exome sequencing later in 2020, many genetic tests are not offered by specialized centers, with unequal availability across the country. Public health system in Brazil uses ICD-10 for disease coding, preventing appropriate epidemiologic knowledge of RD in Brazil. Incorporation of new technologies as orphan drugs has been in place and regulation for expedite licensing for new RD drugs were issued, although high cost and availability to RD population has been a challenge.

Cognitive interviews are a valuable qualitative method for developing and refining survey instruments, particularly on complex topics such as genetic health. They help address misunderstandings between intended meanings and respondent interpretations, enhancing data validity and ensuring comprehensibility. This study aimed to refine a questionnaire exploring the attitudes and preferences of the Italian general population regarding the communication of potential hereditary conditions within families. Through iterative testing, issues related to questionnaire instructions, question wording, and the sensitive nature of the topics were identified and addressed. Most concerns emerged in the first round of cognitive interviews, while the second round only required minor refinements. The qualitative analysis identified four key themes reflecting participants' challenges in understanding genetic information: (1) difficulties with genetic terminology, including gene names and scientific jargon, which induced anxiety and hindered comprehension; (2) ambiguities surrounding the terms "genetic testing" and "family," with confusion about the nature of genetic testing and the scope of "family" in genetic contexts; (3) misinterpretations of "genetic risk" as an existing disease diagnosis rather than a probabilistic concept, leading to misunderstandings about the implications of genetic predisposition; and (4) conflation of "authorization" and "responsibility" in genetic communication, further complicated by uncertainty regarding privacy and confidentiality. Findings from this study informed targeted modifications to the questionnaire to enhance its clarity and accessibility. Our study highlights the importance of cognitive interviewing in refining survey tools on genetic communication, ensuring that such instruments effectively capture public perceptions and facilitate informed decision-making.

Genetic testing is an integral part of Neonatal Intensive Care Unit (NICU) care. There are reported disparities in both NICU care and genetic testing related to race and language spoken. Identifying characteristics associated with genetic testing in NICUs could help detect patients who may benefit from genetic testing, as well as any current disparities. We sought to analyze characteristics of NICU admits who had genetic testing in general and specific test categories. Characteristics were requested from the Children's Hospital Neonatal Consortium database for patients admitted to Primary Children's Hospital's NICU in 2022. Statistical analysis was performed to determine if characteristics were more likely to result in genetic testing and if differences between those with genetic testing and those without were significant. All genetic test types were more likely ordered with genetic consultations. Cytogenetic testing was more likely in patients with a cardiology consult or who were Spanish-speaking. Patients who were of Hispanic origin were more likely to have molecular testing ordered. The average number of specialty consults for a patient was higher for those with genetic testing. Premature and low birthweight infants had longer time to genetic test ordering. No disparities were identified, which could be due to a small, homogenous sample. The differences with Spanish-speaking patients and those with mothers of Hispanic origin could be due to many factors, including consenting practices. It may be difficult to identify infants who might need genetic testing when they are low birthweight and/or premature. It is important to continue monitoring for differences in ordering practice for this vulnerable population.

To determine how physician adherence to recommended practices for discussing Down syndrome (DS) impacts patient experiences, and which of these recommendations most correlate with positive prenatal patient experiences. Online surveys were distributed to mothers of children with DS born between 2016-2021. The descriptions of prenatal experiences were assigned sentiment analysis scores: positive, negative, or neutral. The scores were then compared against the adherence of clinicians to recommended practices for delivering prenatal screening results. Of the 167 patients in this study, over 50% described a negative experience. The odds of having a neutral/positive diagnosis experience were about 18 times greater for those patients whose physicians adhered to all seven social recommendations. The odds of having a positive/neutral screening experience were 11.4 times greater for those patients whose physicians adhered to both emotional recommendations (not saying "I'm sorry" or conveying the diagnosis as bad news"). Most of the variance in the patient diagnosis experience was attributed to adherence to emotional recommendations and social recommendations. To meet the needs of patients, obstetricians need to address emotional, social, and informational needs by providing 1) access to balanced and accurate information about disabilities and 2) being better trained on sensitive communications.

The integration of genomics into nursing education has been a growing focus in recent years, as the role of genomics in healthcare continues to expand. Although the fundamental role of nurses in integrating genomic information into patient care is well-documented in the literature, studies have consistently highlighted significant gaps in nurses' understanding of these topics, impacting their ability to provide comprehensive care. This study aims to explore how genomic knowledge is taught in Portuguese undergraduate nursing education at a national level. A deductive content analysis was performed on explicit genomic content in each course specification within the nursing programs. A total of 478 course descriptions from 12 nursing programs were analyzed. Of these, only 25 courses (5.2%) explicitly referenced genomic content. Results reveal significant variability across programs, with some covering a considerable number of genetic topics, while others showed minimal or no coverage of genomic topics. Results also show that topics related to basic molecular biology and fundamental genetic principles tend to be more emphasized in nursing curricula compared to those focused on psychosocial aspects or patient-centered care. This inconsistency highlights the lack of a standardized approach to integrating genomics into nursing education. These findings suggest that the current approach to Portuguese nursing education is insufficient for preparing nurses to effectively address genomic issues in patient care and research. This research argues for a more systematic, early, and consistent integration of genomics across all nursing programs to ensure that future nurses are well-equipped to meet the challenges of modern healthcare, ultimately improving patient outcomes.

Introduction: A lack of culturally appropriate genetic information prevents the British Pakistani community from engaging with genetic services. The GENE-Ed project focussed on the development of an educational app with and for the Pakistani community. A secondary aim was understanding how to engage the community in research.

Methods: We used an iterative co-design and co-creation approach including four phases to develop the Gene app. Phase 1 included seven interviews with community members to explore genetics understanding and define the requirements. Phase 2 included reviewing smartphone apps and research on digital patient-facing interventions for genetics understanding. Phase 3 included developing the app and obtaining initial feedback. In Phase 4, feedback was obtained from five community members using the System Usability Scale (SUS), a bespoke survey and observations.

Results: Four themes were identified in the interviews: current awareness of genetics; consanguinity, religion and cultural influence; presenting genetics information in a new digital resource and dissemination; information-sharing and uptake. The reviews highlighted an absence of culturally sensitive, accessible and evidence-based digital resources. Initial feedback included altering the animations and images within the app and simplifying the text. The mean SUS score was 87, indicating excellent usability. The written information, animations and videos were acceptable to participants, and they tended to trust the information in the app. During feedback, community members responded well to different methods but struggled with written open-ended survey questions.

Conclusion: The co-design approach was essential to developing an acceptable resource for the British Pakistani community. Future clinical testing is needed.

This study is the first to explore the psychosocial experience of members of Portuguese families with late-onset variant transthyretin amyloidosis with polyneuropathy (A-ATTRv-PN). Based on a constructivist worldview, this phenomenological investigation followed a qualitative approach by conducting eight interviews and analyzing qualitative data. The main results suggest that the psychosocial experience of the members of families interviewed is marked by: (a) a delayed awareness of the family disease (viz., in adulthood), (b) psychosocial impacts (viz., emotional and other impacts related to work, parenting, caregiving) experienced and anticipated in an adult phase of the life cycle, and (c) the use of approach strategies (e.g., seeking information about A-ATTRv-PN and seeking social support) and/or avoidance strategies (e.g., avoiding seeking information and talking to others about the condition) with a view to accommodating A-ATTRv-PN in personal and family life. These results differ from the life trajectories of members of Portuguese families with A-ATTRv-PN described previously and extend previous scientific evidence on the psychosocial experience of members of families where the disease typically appears late, contributing to further study on this topic and to the optimization of genetic counseling practices and health policies that respond to the psychosocial needs of members of Portuguese families with late onset of the condition. Future studies should continue to deepen our understanding of the psychosocial experience of this population to improve the clinical response provided to patients, families, and caregivers.

Non-invasive prenatal testing (NIPT) analyses cell-free fetal DNA (cffDNA) in maternal blood to screen for trisomies 13, 18, and 21, offering critical insights into common chromosomal aneuploidies without requiring invasive procedures. Advances in technology have made NIPT faster, more affordable, and widely accessible in many high-income countries (HICs), where it has been integrated into routine prenatal care. However, in low- and middle-income countries (LMICs), including South Africa (SA), NIPT remains largely inaccessible. It is available only to individuals who can afford out-of-pocket expenses or those with medical aid and high-risk pregnancies, limiting its potential impact on broader public health. This scoping review aimed to examine the current landscape of NIPT in SA and other LMICs, with a focus on identifying key themes, implementation challenges, and gaps in the literature. Thematic analysis was used to synthesise findings across studies. The review followed PRISMA guidelines, where relevant literature was identified through database searches using the Boolean term: (NIPT OR "Non-invasive prenatal screen*" OR "Non-invasive prenatal test*" OR NIPD) AND (South Africa* OR "low-middle income*" OR "LMIC"). Inclusion and exclusion criteria were applied to ensure relevance and quality. Twenty-nine articles were included in the review, and the following key themes were identified: (1) NIPT is a screening, not a diagnostic, test; (2) pre- and post-test genetic counselling is recommended; (3) NIPT is expensive and complex; (4) implementation is challenging; (5) ethical, legal, and social concerns exist; (6) access remains unequal; (7) NIPT reduces the need for invasive testing due to high sensitivity and specificity; (8) NIPT should complement, not replace, first-trimester screening; (9) screening for other genetic conditions may be more relevant in LMICs; and (10) NIPT benefits HIV-positive mothers. Widespread NIPT implementation in SA is constrained by cost, infrastructure, and competing healthcare priorities. While next-generation sequencing (NGS)-based NIPT remains expensive, alternative technologies, such as droplet-based NIPT, may offer a more affordable approach for high-risk pregnancies, reducing reliance on invasive procedures. NIPT holds significant potential to improve prenatal care in SA. However, its current inaccessibility within the public sector and among underserved populations underscores critical gaps in equity, implementation, and broader prenatal screening practices, which remain inadequate across much of the country. A locally validated, cost-effective alternative such as droplet digital PCR-based NIPT (ddNIPT) could help bridge this divide and make advanced screening more accessible and sustainable. Future research must prioritise validating such alternatives within the South African context. Ensuring equitable access to NIPT is essential to improving outcomes for all pregnant women.

Genomic medicine (GM) was mainstreamed across the National Health Service (NHS) in England in 2018. Non-genetics healthcare professionals can now incorporate genomic testing including whole genome sequencing (WGS) into their clinical practice. This study was conducted to evaluate the preparedness of community paediatricians (CPs) for GM. Semi-structured interviews, using a topic guide informed by the Consolidated Framework for Implementation Research, were conducted with 17 CPs working in the NHS to explore issues related to preparedness and confidence. Data were analysed using thematic template analysis. The codebook included both inductive and deductive codes informed by the Capability, Opportunity and Motivation Behaviour model (COM-B), an implementation theory to explain behaviour change. The majority of participants perceived a net benefit from GM in terms of improving clinical management and information provision for patients and families and were receptive to using GM in their clinical practice. However, there was wide variation across trusts in CP preparedness for genomic medicine for reasons including lack of time and resources, notably workforce support. Many also lacked confidence in the skills required to deliver GM, and did not see GM as a priority. Most participants felt that they had access to GM education, but the main challenge was finding the time to engage with it. Strategies related to fiscal measures, enablement, training and education could help to address these early obstacles. Our findings may be relevant to clinicians in other non-genetic specialties integrating GM into their clinical practice not only in the UK NHS but more globally.