Journal of Community Genetics最新文献

Countries in the Global North use biochemical tests to screen for at least 20 diseases in newborns, while in the UK, only 10 diseases are screened for. The United Kingdom National Screening Committee (UKNSC) is the entity responsible for making recommendations to the government with regards to which conditions should be included in the Newborn Screening (NBS) programme. Examination of the meeting minutes of the UKNSC between 2015 and 2022 revealed that no new diseases were recommended for NBS during this period. If there was no 'effective treatment' for the disease it was rejected for NBS. In 2022, the Newborn Genomes Programme (NGP) was announced; a research study aiming to screen for over 223 rare genetic diseases using whole genome sequencing technology in newborns. While this could lead to a seismic expansion of NBS in the UK, many of the diseases included in the programme are currently considered 'actionable' rather than 'treatable' conditions. This poses an ethical conundrum for the UKNSC, which is involved in both NBS and NGP, given that it has thus far made recommendations against the expansion of the NBS programme using available biochemical assays, contrary to what has been implemented in other countries in the Global North. In this paper, we aim to critically examine the processes and circumstances that have held back the expansion of the NBS programme in the UK, as compared with other countries, focusing on the period 2015-2022, when no new diseases were added to the UK NBS programme, and contrast them with the drivers that have led to the support and funding for the NGP during this same time.

Genetic testing for cancer risk is a vital tool for preventive care, yet its association with the uptake of evidence-based cancer screening remains unclear. This study examined the association between cancer-risk genetic testing and cancer screening uptake using data from the Health Information National Trends Survey (2017 and 2020), a nationally representative sample of US adults. We focused on the United States Preventive Services Task Force (USPSTF)-recommended screening tests for colorectal (CRC), breast, and cervical cancers. Multivariable logistic regression models, adjusted for sociodemographic and clinical factors, were used to assess the relationship between cancer screening uptake and cancer-risk genetic testing. The analysis included 6,629 respondents (mean age 48.5 years; 50.7% female; 61.1% non-Hispanic White). Of the respondents, 3.3% had undergone genetic testing for cancer risk. Among eligible populations, screening uptake was 85.2% for Pap tests, 80.8% for mammograms, and 81.3% for CRC. Unadjusted analysis showed a significant association between breast cancer screening and genetic testing (p = 0.005), which lost significance after covariate adjustment. Most respondents who underwent genetic testing received result interpretation assistance from healthcare providers and genetic counselors. Among those who received genetic testing, all respondents who received assistance from genetic counselors were adherent to cancer screening recommendations. Our results suggest that while genetic testing was associated with breast cancer screening in unadjusted analyses, this association was not maintained after adjusting for covariates. No significant associations were found between genetic testing and cervical cancer or CRC screening. Further research using prospective designs is needed to examine the effectiveness of genetic testing in enhancing cancer prevention and screening efforts.

Prenatal screening and diagnostic tests are complex procedures that have to be conducted within a limited timeframe and require pregnant women to make rapid decisions. This study aimed to evaluate the knowledge and attitude of pregnant women by posing particular questions on screening and diagnostic tests, and to determine the correlation with sociodemographic and obstetric factors. A total of 259 pregnancies were enrolled to evaluate their knowledge of prenatal screening and diagnostic tests. Participants were categorized into groups and were presented with 5-point Likert-type questions. Based on the responses, each question was evaluated individually and scored. The mean age was 29.97 ± 5.63, the mean duration of marriage was 6.06 ± 5 years, and 32.8% of participants had a university degree or above. Among them, 52.1% (135/259) had not undergone prenatal screening tests. The percentage of recommended prenatal diagnostic testing was 37.1% (96/259). Demographic and obstetric characteristics were compared between those who underwent screening tests and those who did not. The percentage of screening tests was higher among employed women and those in consanguineous marriages. A statistically significant correlation was found between participants' consent for diagnostic testing, gestational week, employment status, and the type of screening test administered (p < 0.05). Questionnaire scores were significantly higher in both screened and unscreened groups among those with a university degree or higher. These findings emphasize the importance of informing pregnant women effectively, which may be achieved through a well-organized counseling network.

In international policy discussions, "serious disease" is frequently used as a criterion for appropriate uses of human genome editing technology, despite the lingering imprecision of its definition and its potential to stigmatize those with genetic conditions. Drawing from interviews conducted with genome editing scientists and members of governance groups attempting to influence policy, our findings provide empirical evidence of the lack of shared definitions of serious disease and highlight challenges of relying on the term. The difficulty in defining serious disease among those influencing the translation of genome editing research points to the need to recognize community context and lived experiences as part of the measurement of seriousness. This is particularly true when considering that for some diseases, the development of therapeutic gene editing may introduce or exacerbate stigma or discrimination for those with the conditions. Including the perceptions of serious disease among those with lived experience of genetic conditions can help guide ethical policies and enable the genome editing community to avoid imposing the views of those in power as to what constitutes serious.

This manuscript reviewed the state of the art about the teaching and training of human resources for genetics and genomics in Brazil. We presented the national scenario of teaching genetics in medical undergraduate and other health courses. We discussed the training of medical geneticists through medical residency and addressed the training in genetics of physicians from specialties other than genetics. We examined the training of health professionals specializing in genetics through lato sensu and stricto sensu postgraduate programs and presented the proposals for multi-professional residency in genetic counseling and genetics and genomics that are currently the subject of discussion in the country. Finally, we highlighted the importance of training primary health care professionals concerning genetics and genomics for the effective establishment of a line of care for individuals with genetic disorders in the Brazilian Unified Health System. Therefore, we provided a thorough overview of how genetics is (or is not) incorporated into professional training in a comprehensive public healthcare system such as the Brazilian.

Numerous studies have focused on direct-to-consumer genetic testing (DTC-GT), but little is known about consumers outside North America and Europe. Therefore, this study assesses the sociodemographic profile, motivations, and impacts of DTC-GT among Brazilian consumers. DTC-GT customers were invited to complete a 30-question online survey anonymously. Descriptive statistics and Chi-Square tests were used to analyze the data, with significant findings analyzed using post-hoc and correspondence analysis. This study comprised 1513 Brazilian DTC-GT consumers with a mean age of 42 years old and mostly female (60.8%). Participants' primary motivation for purchasing the test was to learn about their genetic predispositions to diseases (87.2%) followed by biogeographical ancestry (86.2%). Fewer than 20% of respondents reported consulting a healthcare professional due to the test results (18.4%), and most consumers felt confident in independently understanding the test results (66.9%), which was significantly associated with Health/Biological Sciences professional field (p < 0.001). Additionally, many customers felt glad (63.3%), and few felt worried after receiving their results (13.4%), particularly concerning health outcomes. Lifestyle changes included dietary adjustments (38.7%), regular health check-ups (24.2%) and increased physical activity (16.5%). Overall, 64.0% of respondents reported altering habits following test results. These findings contribute to understanding the motivations and impacts of DTC-GT among Brazilian consumers, indicating positive lifestyle changes and limited negative psychological impacts.

In this document, we discuss the main difficulties faced by investigators in low- and middle-income countries (LMICs) and propose potential solutions. Challenges include the scarcity of experts in rare disorders, higher costs of supplies, underfunding, and limited patient advocacy groups. Establishing collaborations among patient advocacy groups, governments, investigators, and other stakeholders to create action plans can address many of these issues and promote research into rare diseases.

Access to high-cost drugs for rare diseases poses global challenges, especially in low- and middle-income countries. Pompe Disease (PD) exemplifies these challenges as a case study to analyze Brazil's approach to accessing high-cost therapies. This study aims to characterize access to high-cost drugs for rare diseases in Brazil using PD as a reference and to compare Brazil's approach with global trends in PD treatment. A documentary review on access to PD treatment within Brazil's Unified Health System (SUS) was conducted. This included health technology assessments (HTA) and regulatory decisions from Brazilian and international agencies. Data on the dispensing of alglucosidase alfa from the Brazilian Outpatient Information System (SIA/SUS; Jan 2020-May 2024) were analyzed and compared to previous budget impact estimates. Only alglucosidase alfa is covered by the SUS, and exclusively for Infantile-onset Pompe Disease (IOPD). Projections for vial usage in the SUS were overestimated. Key drivers of access include Ministry of Health policies, HTA recommendations, judiciary decisions, and industry actions. Brazil's access model shows partial alignment with global trends, but significant gaps remain. The study highlights systemic issues that are relevant to other rare diseases, offering insights and lessons for Brazil and other middle-income countries.