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It has been close to six decades since Watson and Crick discovered the structure of DNA and more than ten years since the human genome was decoded. Today, through the collection and analysis of a small blood sample, every baby born in the United States is screened for more than fifty genetic disorders. Though the early detection of these abnormalities can potentially save lives, the test also has a high percentage of false positives—inaccurate results that can take a brutal emotional toll on parents before they are corrected. Now some doctors are questioning whether the benefits of these screenings outweigh the stress and pain they sometimes produce. In Saving Babies?, Stefan Timmermans and Mara Buchbinder evaluate the consequences and benefits of state-mandated newborn screening—and the larger policy questions they raise about the inherent inequalities in American medical care that limit the effectiveness of this potentially lifesaving technology. Drawing on observations and interviews with families, doctors, and policy actors, Timmermans and Buchbinder have given us the first ethnographic study of how parents and geneticists resolve the many uncertainties in screening newborns. Ideal for scholars of medicine, public health, and public policy, this book is destined to become a classic in its field.

InBuilding Genetic Medicine, Shobita Parthasarathy shows how, even in an era of globalization, national context is playing an important role in the development and use of genetic technologies. Focusing on the development and deployment of genetic testing for breast and ovarian cancer (known as BRCA testing) in the United States and Britain, Parthasarathy develops a comparative analysis framework in order to investigate how national \"toolkits\" shape both regulations and the architectures of technologies and uses this framework to assess the implications of new genetic technologies. Parthasarathy argues that differences in the American and British approaches to health care and commercialization of research led to the establishment of different BRCA services in the two countries. In Britain, the technology was available through the National Health Service as an integrated program of counseling and laboratory analysis, and was viewed as a potentially cost-effective form of preventive care. In the United States, although BRCA testing was initially offered by a number of providers, one company eventually became the sole provider of a test available to consumers on demand. Parthasarathy draws lessons for the future of genetic medicine from these cross-national differences, and discusses the ways in which comparative case studies can inform policy-making efforts in science and technology.

The importance of sampling from globally representative populations has been well established in human genomics. In human microbiome research, however, we lack a full understanding of the global distribution of sampling in research studies. This information is crucial to better understand global patterns of microbiome-associated diseases and to extend the health benefits of this research to all populations. Here, we analyze the country of origin of all 444,829 human microbiome samples that are available from the world’s 3 largest genomic data repositories, including the Sequence Read Archive (SRA). The samples are from 2,592 studies of 19 body sites, including 220,017 samples of the gut microbiome. We show that more than 71% of samples with a known origin come from Europe, the United States, and Canada, including 46.8% from the US alone, despite the country representing only 4.3% of the global population. We also find that central and southern Asia is the most underrepresented region: Countries such as India, Pakistan, and Bangladesh account for more than a quarter of the world population but make up only 1.8% of human microbiome samples. These results demonstrate a critical need to ensure more global representation of participants in microbiome studies.

There is an urgent need to create novel models using human disease-relevant cells to study severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) biology and to facilitate drug screening. Here, as SARS-CoV-2 primarily infects the respiratory tract, we developed a lung organoid model using human pluripotent stem cells (hPSC-LOs). The hPSC-LOs (particularly alveolar type-II-like cells) are permissive to SARS-CoV-2 infection, and showed robust induction of chemokines following SARS-CoV-2 infection, similar to what is seen in patients with COVID-19. Nearly 25% of these patients also have gastrointestinal manifestations, which are associated with worse COVID-19 outcomes 1 . We therefore also generated complementary hPSC-derived colonic organoids (hPSC-COs) to explore the response of colonic cells to SARS-CoV-2 infection. We found that multiple colonic cell types, especially enterocytes, express ACE2 and are permissive to SARS-CoV-2 infection. Using hPSC-LOs, we performed a high-throughput screen of drugs approved by the FDA (US Food and Drug Administration) and identified entry inhibitors of SARS-CoV-2, including imatinib, mycophenolic acid and quinacrine dihydrochloride. Treatment at physiologically relevant levels of these drugs significantly inhibited SARS-CoV-2 infection of both hPSC-LOs and hPSC-COs. Together, these data demonstrate that hPSC-LOs and hPSC-COs infected by SARS-CoV-2 can serve as disease models to study SARS-CoV-2 infection and provide a valuable resource for drug screening to identify candidate COVID-19 therapeutics. The use of lung and colonic organoid systems to assess the susceptibility of lung and gut cells to SARS-CoV-2 and to screen FDA-approved drugs that have antiviral activity against SARS-CoV-2 is demonstrated.

Background Public health professionals regularly engage faith communities to improve public health. This systematic review characterizes approaches that public health professionals have used to engage faith communities and evaluates them using the Theory of Planned Behavior. It examines engagement regarding vaccination and genetic and genomic healthcare, which have generated significant controversy within religious groups and, for comparison, colorectal cancer screening, which has not. Methods This systematic review followed PRISMA reporting guidelines. We searched 8 online databases (e.g., Medline, Embase, Scopus). Publications in English that reported engaging a faith community on genetics, vaccination, or colorectal cancer screening were included. We screened 13,117 articles and extracted information from 121 articles reporting on 96 distinct projects. Results This review includes 121 articles reporting on 96 distinct projects. 67% of projects took place in the United States. Of these, 73% reported engaging racial or ethnic minorities; only 5% of projects reported engaging primarily White, Christian communities. Only 35% of projects reported addressing religious values that might inform attitudes and beliefs. The majority of publications ( n  = 74; 77.1%) reported primarily engaging faith communities for reasons unrelated to faith. Conclusion Because the Theory of Planned Behavior is widely used and our focus was on faith communities, we expected to see engagement with faith values and beliefs that might inform attitudes toward behaviors or social pressures community members perceive. Fewer than half of the projects reported addressing values or attitudes. There are missed opportunities to engage faith communities on religiously controversial public health initiatives in ways that are most likely to affect health behaviors. Evaluation of the outcomes of such engagement is needed. Trial registration The protocol is registered on Open Science Framework (OSF) at osf.io/r2c9n.

Genetics and genomics research (GGR) is associated with several challenges including, but not limited to, methods and implications of sharing research findings with participants and their family members, issues of confidentiality, and ownership of data obtained from samples. Additionally, GGR holds significant potential risk for social and psychological harms. Considerable research has been conducted globally, and has advanced the debate on return of genetic and genomics testing results. However, such investigations are limited in the African setting, including Uganda where research ethics guidance on return of results is deficient or suboptimal at best. The objective of this study was to assess perceptions of grassroots communities on if and how feedback of individual genetics and genomics testing results should occur in Uganda with a view to improving ethics guidance. This was a cross-sectional study that employed a qualitative exploratory approach. Five deliberative focus group discussions (FGDs) were conducted with 42 participants from grassroots communities representing three major ethnic groupings. These were rural settings and the majority of participants were subsistence farmers with limited or no exposure to GGR. Data were analysed through thematic analysis, with both deductive and inductive approaches applied to interrogate predetermined themes and to identify any emerging themes. NVivo software (QSR international 2020) was used to support data analysis and illustrative quotes were extracted. All the respondents were willing to participate in GGR and receive feedback of results conditional upon a health benefit. The main motivation was diagnostic and therapeutic benefits as well as facilitating future health planning. Thematic analysis identified four themes and several sub-themes including 1) the need-to-know health status 2) paternity information as a benefit and risk; 3) ethical considerations for feedback of findings and 4) extending feedback of genetics findings to family and community. Participation in hypothetical GGR as well as feedback of results is acceptable to individuals in grassroots communities. However, the strong therapeutic and/or diagnostic misconception linked to GGR is concerning given that hopes for therapeutic and/or diagnostic benefit are unfounded. Viewing GGR as an opportunity to confirm or dispute paternity was another interesting perception. These findings carry profound implications for consent processes, genetic counselling and research ethics guidance. Privacy and confidentiality, benefits, risks as well as implications for sharing need to be considered for such feedback of results to be conducted appropriately.

Rapid antigen tests hold much promise for use in the school environment. However, the performance of these tests in non-clinical settings and among one of the main target populations in schools-asymptomatic children-is unclear. To address this gap, we examined the positive and negative concordance between the BinaxNOW™ rapid SARS-CoV-2 antigen assay and an RT-PCR test among children at a community-based Covid-19 testing site. We conducted rapid antigen (BinaxNOW™) and oral fluid RT-PCR (Curative Labs) tests on children presenting at a walk-up testing site in Los Angeles County from November 25, 2020 to December 9, 2020. Positive concordance was determined as the fraction of RT-PCR positive participants that were also antigen positive. Negative concordance was determined as the fraction of RT-PCR negative participants that were also antigen negative. Multivariate logistic regression models were used to examine the association between positive or negative concordance and participant age, race-ethnicity, sex at birth, symptoms and Ct values. 226 children tested positive on RT-PCR; 127 children or 56.2% (95% CI: 49.5% to 62.8%) of these also tested positive on the rapid antigen test. Positive concordance was higher among symptomatic children (64.4%; 95% CI: 53.4% to 74.4%) compared to asymptomatic children (51.1%; 95% CI: 42.5% to 59.7%). Positive concordance was negatively associated with Ct values and was 93.8% (95% CI: 69.8% to 99.8%) for children with Ct values less than or equal to 25. 548 children tested negative on RT-PCR; 539 or 98.4% (95% CI: 96.9% to 99.2%) of these also tested negative on the rapid antigen test. Negative concordance was higher among asymptomatic children. Rapid antigen testing can successfully identify most COVID infections in children with viral load levels likely to be infectious. Serial rapid testing may help compensate for limited sensitivity in early infection.

Genetic testing is widely recommended in the diagnosis and management of breast cancer. This study aimed to investigate the knowledge, attitude, and practice (KAP) toward genetic testing in Chinese patients with breast cancer. This multicenter cross-sectional study enrolled breast cancer patients in seven public hospitals in Shanghai, China, between November 2022 and January 2023. A self-administered web-based questionnaire was used to collect the participants’ demographic information and their KAP regarding genetic testing. A total of 592 valid questionnaires were collected in this study; 145 (24.49%) patients underwent genetic testing, and 20.61% of the patients never learned about genetic testing. The knowledge, attitude, and practice scores were 4.59 ± 4.49 (22.95%, possible range: 0–20), 16.72 ± 2.92 (83.60%, possible range: 0–20), and 23.67 ± 5.18 (73.97%, possible range: 0–32), respectively. Multivariable logistic regression showed that knowledge (OR = 1.21, 95%CI: 1.51–1.28, P < 0.001), attitude (OR = 1.10, 95%CI: 1.01–1.19, P = 0.027), Jiangsu Province (OR = 0.40, 95%CI: 0.19–0.84, P = 0.016), monthly income of 5000–10,000 CNY (OR = 0.46, 95%CI: 0.25–0.86, P = 0.015), disease duration of 5–10 years (OR = 0.50, 95%CI: 0.27–0.94, P = 0.030) and disease duration of ≥ 10 years (OR = 0.26, 95%CI: 0.11–0.60, P = 0.002), triple-negative subtype (OR = 3.45, 95%CI: 1.51–7.85, P = 0.003) were independently associated with patients’ behavior of undergoing genetic testing. The structural equation modeling showed that knowledge directly positively influenced attitude (β = 0.343, P < 0.001), while attitude directly positively influenced practice (β = 0.942, P < 0.001). Chinese patients with breast cancer demonstrated poor knowledge, positive attitude, and suboptimal practice toward genetic testing. More education and counseling on genetic testing for patients are necessary.