Journal of Community Genetics最新文献

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.

Medical geneticists are physicians who assess, diagnose, and manage individuals with rare genetic diseases. They work with genetic counsellors who are health professionals with specialized training in genetics and counselling. Both provide genetic counselling in their practice. In many centres, genetic counsellors provide patient care collaboratively with geneticists. Given the close working relationship and potential for perception of a hierarchy, interpersonal conflicts can arise, which may be accentuated when the respective scopes of practice are not appreciated. We developed a longitudinal interprofessional curriculum for genetics residents to improve counselling skills, increase understanding of the skills of genetic counsellors, and foster positive relationships. We aim to assist our trainees in navigating the close working relationship and overlapping scopes of practice. Anticipated barriers included increased evaluation workload for genetic counsellors and curriculum transitions, addressed via development of a collaborative evaluation tool. We created a genetic counsellor mentor role, highlighting the importance of interdisciplinary mentorship, and introduced a Junior Attending rotation to provide experience with supervision. Participant feedback has been positive, citing improved communication and increased confidence in counselling. Genetic counsellors have been supportive in their teaching and curriculum contributions. The curriculum has been reviewed nationally with positive and constructive receipt. We continue to assess impacts of the curriculum on transition to practice and are reviewing if the mentor-mentee relationships continue past graduation. Our program has benefited from using allied health professionals in educational, evaluator, and mentorship roles, and hope dissemination of this curriculum can serve as a roadmap for other programs.

Polygenic risk scores (PRS) for different diseases are expected to become more widely available to the public in the coming decades. In addition to the investigation of the clinical relevance of polygenic risk scores, an assessment of the health behavioral impact is needed. The present study used data from a personalized medicine project that combined genomic and traditional health data to evaluate respondents' risk for common diseases. Specifically, we investigated if supplementing traditional risk estimates of type 2 diabetes and coronary heart disease with PRS influenced respondents' self-reported physical activity, alcohol consumption, fruit/vegetable consumption or prompted the respondents to seek medical treatment/examination. As an exploratory hypothesis, we also tested if there was an interaction between the disease risk level and the experimental/control group for any of the outcomes. A randomized controlled trial was conducted, where the experimental group (n = 216 for seeking treatment and 523-459 for other outcomes) received risk estimates based on traditional risk and PRS, and the control group (n = 216 and 526-498) based solely on traditional risk factors. On average, approximately 80 days elapsed between the risk disclosure and outcome measurements. We found no significant difference between the groups regarding health behavior (ps > .28, ds < 0.07) or likelihood of seeking medical treatment/examination (p = .86, OR = 1.06). Likewise, no significant interactions were detected (ps > .08, ds < .11, ORs < 1.2). We conclude that we did not find support for either a beneficial or detrimental effect of supplementing traditional risk estimates with PRSs. However, several limitations should be noted when generalizing the results.

Recent reports confirm that cystic fibrosis (CF) is a global disease. In Asian populations, both the spectrum of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations and the clinical course differ from those observed in Western populations. Although the recognition of CF is increasing in South Asia, comprehensive data from Southeast Asian countries remain sparse. The underdiagnosis of CF in Southeast Asia is attributed to limited awareness among healthcare professionals and restricted access to sweat chloride testing. Until 2021, CF had not been documented in the indigenous population of Vietnam. This study presents the first three confirmed cases of CF in native Vietnamese individuals. Additionally, a literature review of CF cases reported across Southeast Asia was conducted to provide insights into its prevalence and variations in CFTR mutation profiles within the region. A total of 50 cases were identified, distributed across Malaysia (30 cases), Thailand (8), the Philippines (6), Vietnam (5), and Indonesia (1), revealing a mutation spectrum distinct from that observed in Caucasian populations. The most common mutations included p.Phe508del and p.Ile1295PhefsX32, each found in 11.5% of cases. These findings highlight the need for increased clinical awareness, expanded access to sweat chloride testing, and the establishment of CF centers and regional CF registries to better understand and manage CF in Southeast Asia.

Black individuals have the highest prostate cancer (PCa) incidence and mortality rates of any racial or ethnic group. Racial disparities persist in the understanding and uptake of genetics services, while the perspectives of Black individuals with PCa regarding genetic counseling and germline genetic testing for inherited cancer risk (GC/GT) remains understudied. This qualitative study explored attitudes, facilitators, and barriers to awareness, interest, and uptake of GC/GT among Black individuals with PCa. Eight individuals who self-identified as African American and/or Black with a personal history of PCa participated in individual telephone interviews using a semi-structured interview guide. Interview transcripts were analyzed using both an inductive and deductive coding approach, constant comparison, and selective coding. Five major themes were identified: (1) uncertainty surrounding personal relevance of GC/GT, (2) family influence and impact of GC/GT, (3) healthcare providers and institutions as gatekeepers of GC/GT, (4) community identity, influence, and impact of GC/GT, and (5) systemic barriers to GC/GT exemplify larger structural constraints. A key finding was the influence of community, a collective identity among Black individuals and a desire to benefit the Black community, in motivating research participation and pursuit of GC/GT to lessen racial disparities in PCa. Individual, interpersonal, institutional, community, and structural factors are both barriers and facilitators to awareness, interest, and uptake of GC/GT. Multilevel interventions such as communicating personal, familial, and community implications of GC/GT, improving patient-provider relationships and genetics education, and addressing systemic barriers are necessary to increase efficacy, utility, and equity in GC/GT.

As there was a gap in research focused on the autism spectrum disorder (ASD) genetic testing educational needs of Taiwanese parents of children with ASD, our objective was to explore their ASD genetic testing-related educational needs and preferences. Semi-structured interviews were conducted with 39 Taiwanese parents of children with ASD. All interview data were analyzed to identify emergent themes using content analysis. The study included 31 mothers and 8 fathers with a mean age of 42. Most interviewees were married (92.3%) and held a college degree or higher (61.5%). Most interviewees reported positive attitudes toward ASD genetic testing education and identified preferred educational topics that included: (1) ASD genetic testing cost, procedures, accuracy, reliability, benefits, risks, and scientific basis, (2) genetic testing report interpretation, and (3) the experiences of other parents whose children have undergone ASD genetic testing. Parents reported that their most preferred education methods were in-person lectures and seminars, printed health education materials, and web-based education and that they preferred receiving education from reliable sources including healthcare providers, ASD organizations, and schools. Taiwanese parents of children with ASD in this study expressed interest in ASD genetic testing education. They preferred a variety of topics and delivery methods and welcomed education from diverse sources. These findings provide significant implications for the development of evidence-based ASD genetic testing focused health education programs and materials tailored to the needs of parents of children with ASD in Taiwan.

Precision medicine holds promise for improving health care by tailoring disease treatment and prevention efforts to the needs of individual patients. It also raises ethical questions related to equitable distribution of the benefits of precision medicine; data management, including the terms of data ownership, sharing, and security; and, the nature and extent of community engagement in and oversight of research. These questions are particularly salient for minoritized communities that have been harmed by unethical research practices and often deprived the full benefit of advances in medical science. Understanding the perspectives of these communities is essential to the design and conduct of ethical and effective precision medicine research. This study explored perspectives on the acceptability, feasibility, value, and benefits and harms of precision medicine research among Alaska Native and American Indian (ANAI) peoples. We conducted four focus groups with ANAI individuals who receive primary care from a Tribal health organization in Anchorage, Alaska. Participants were willing to engage in precision medicine research provided specific requirements were met. Research must be conducted by the Tribal health organization or another trusted partner, community health priorities must drive the research agenda, and researchers must employ robust data protections to guard against loss of data security and maintain control over data use and access. These requirements work collectively to ensure research benefits and respects Tribal sovereignty. These findings could help inform efforts to design and implement precision medicine research programs tailored to concerns of ANAI peoples.

Research on oculocutaneous albinism (OCA) in the black African population has been ongoing for 52 years (1971-2023) in the Division of Human Genetics, University of the Witwatersrand, Johannesburg, South Africa. The aim of the present study was to review all the relevant published articles and focus on selected articles with unique findings. The results showed that unique findings were reported in psychosocial, cultural, epidemiological, clinical and molecular fields of study. The local prevalence of albinism was found to be 1 in 3900, higher than that reported in many other countries, although a worldwide review on prevalence showed that only 26/193 (13%) countries had published figures; the commonest types of OCA found were OCA2 and then OCA3; the high rate of skin cancer was documented; and the natural history of OCA described. Molecular studies showed that the 2.7 kb deletion mutation in the OCA2 gene is the common mutation in OCA2 locally, and further identified unique mutations in TYRP1 causing rufous albinism (OCA3) in this population. An early study found that after the birth of a child with OCA maternal-infant bonding was delayed, and only established some months later. Further research revealed that superstitions and myths surrounded the birth and the death of a person with OCA, and the belief that powerful medicines could be made from body parts, was very disturbing. Genetic causes of OCA were poorly understood by affected individuals, their relatives and communities, and genetic counselling is essential. In summary, over 30 studies were undertaken and published over a period of five decades, and many presented unique findings on this under-researched inherited condition.

Patiens with major congenital anomalies diagnosed prenatally should be referred to and delivered in institutions with the appropriate level of complexity, as this reduces morbidity and mortality. We aimed to assess the prevalence and prenatal diagnosis proportion of selected congenital abnormalities and the complexity levels of birth institutions in a sample of public maternity hospitals in Argentina. Data sources were (1) National Congenital Anomalies Registry, covering the period from 2013 to 2021; and (2) Categorization of birth institutions according to their complexity (high or low). Newborns with the following anomalies were selected for analysis: spina bifida, hydrocephalus, critical congenital heart defects, diaphragmatic hernia, gastroschisis, and omphalocele. Prevalences at birth and prenatal diagnosis proportions were calculated according to the birth institution complexity level. A total of 2.214.102 births across 131 institutions were evaluated, with 1.202.311 births in high-complexity institutions and 1.011.791 in low-complexity institutions. The prevalences per 10.000 births and the prenatal diagnosis proportions for the entire sample were: spina bifida 5,40(95%CI 5,10 - 5,71) 68,54%; hydrocephalus 6,96(95% CI 6,62 - 7,32) 78,92%; critical congenital heart defects 11,05(95% CI 10,62 - 11,49) 43,21%; diaphragmatic hernia 3,88(95%CI 3,62 - 4,14) 68,65%; gastroschisis 7,85(95%CI 7,48 - 8,22) 79,27%; omphalocele 2,01(95%CI 1,83 - 2,20) 76,18%. Prevalences and prenatal diagnosis porportions were significantly higher in high-complexity institutions. Prenatal diagnosis and perinatal care networks must be improved to ensure that patients with major congenital anomalies are delivered in high-complexity birth institutions. The prevalence and prenatal diagnosis porportion, stratified by the complexity level of institutions, can serve as management indicators to evaluate improvements in care quality.

In 2002, in the Emilia-Romagna region of Italy, a comprehensive strategic plan was developed with the aim of improving the integration and efficiency of the genetic services. Two decades later, this report aims to explore the current functioning of the regional network, with special focus on clinical genetics in the evolving scenarios. To this aim, we analyzed the activity data of the medical genetics services in the region, to identify and possibly improve currently open issues. This is a mixed-method study, analyzing quantitatively and qualitatively the activities of seven medical genetics services in Emilia-Romagna region. Quantitative analysis considered the number of consultations and the composition of the staff in the year 2021. Qualitative analysis examined a focus group of directors of the services through reflexive thematic analysis. A total of 14,925 counseling sessions have been delivered by the medical genetics services, staffed with 22.4 full-time equivalent clinical geneticists. A physician performed an average of 14.5 consultations per week and approximately 1166 h of patient care per year. The clinical geneticists/inhabitants ratio was 0.54 per 100,000 inhabitants, and it is estimated that one every 278 inhabitants, on average, underwent a genetic counseling session in 2021. Qualitative analysis highlighted issues concerning patients' access to service, general organization and staff composition. In order to meet the growing demand for genetic counseling services, expansion of the workforce and adjustment of current practice models are required to increase the access to genetic services and the application of test results to clinical management.