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Objective With the completion of the Human Genome Project and swift development of genomic technologies, public health practitioners can use these advancements to more precisely target disease interventions to populations at risk. To integrate these innovations into better health outcomes, public health professionals need to have at least a basic understanding of genomics within various disciplines of public health. This descriptive study focused on the current level of genomics content in accredited master of public health (MPH) programs in the United States. Methods We conducted an internet search on all 171 Council on Education for Public Health (CEPH)–accredited MPH programs in the United States for genomics content in required and elective courses using the search terms “genetics,” “genomics,” and “molecular.” Results Of the 171 CEPH-accredited MPH programs examined, 52 (30.4%) schools and programs in 34 states offered some type of genomics education. Thirty-five (20.5%) schools and programs had a course in genetic epidemiology, 29 (16.9%) had a course in genetic biostatistics or bioinformatics, and 17 (9.9%) had a course in general public health genomics. The remaining 119 offered no course with a focus on genetics or genomics. In addition, some electives or specifically focused courses related to genomics were offered. Conclusion We found inadequate training in public health genomics for MPH students. To realize the promise of precision public health and to increase the understanding of genomics among the public health workforce, MPH programs need to find ways to integrate genomics education into their curricula.

Cystinuria is a rare disorder resulting in development of recurrent kidney stones, adversely affecting patient quality of life. The goal of cystinuria management is to reduce stone formation by increasing cystine solubility in urine, which includes lowering the urinary cystine level below its solubility limit. Treatment usually involves alkalinization of the urine and often requires initiating pharmacotherapy with a cystine-binding thiol drug (CBTD) such as tiopronin; however, proper dose adjustment requires accurate measurement of urinary cystine. The goal of this study was to validate a novel high-performance liquid chromatography tandem mass spectrometry (HPLC–MS/MS) method for quantification of cystine in the urine of patients with cystinuria receiving a CBTD. Urine samples were collected over 24 h from 24 patients and separated into 2 aliquots. Chromatographic separation of samples was conducted and separation of cystine from the cysteine-tiopronin drug complex was complete in < 3 min. The method was validated for accuracy, precision, linearity, limit of detection (LOD), and limit of quantification (LOQ). Mean accuracy range was 97.7–102.3%; intermediate precision was high with relative percent difference values calculated at 1.2–9.3%; the calibration curve resulted in a linear response throughout the concentration range (R2 = 0.998); and the LOD and LOQ were 0.002 and 0.005 mg/mL, respectively. Mean (range) cystine concentrations measured were 111.10 (51.31–179.46) and 242.21 (61.14–741.80) g/L in Aliquots A and B, respectively. The HPLC–MS/MS method presented here indicates that urine cystine can be reliably quantified in patients receiving a CBTD.

Since the Human Genome Project’s completion in 2003, the need for increased population genetic literacy has grown exponentially. To address this need, public health professionals must be educated appropriately to serve the public best. This study examines the current state of public health genetics education within existing master of public health (MPH) programs. A total of 171 MPH Council on Education for Public Health Accreditation (CEPH)-accredited programs across the nation were identified via a preliminary internet search. The American Public Health Association (APHA) Genomics Forum Policy Committee created 14 survey questions to assess the current status of incorporating genetics/genomics education within MPH programs. Using the Qualtrics survey system through the University of Pittsburgh, a link to the anonymous survey was sent to each director’s email address obtained from their program’s website. There were 41 survey responses, with 37 finished to completion, for a response rate of 21.6% (37/171). A total of 75.7% (28/37) of respondents reported having courses containing genetics/genomics information in their programs’ coursework. Only 12.6% reported such coursework to be required for program completion. Commonly listed barriers to incorporating genetics/genomics include limited faculty knowledge and lack of space in existing courses and programs. Survey results revealed the incongruous and limited incorporation of genetics/genomics within the context of graduate-level public health education. While most recorded programs report offering public health genetics coursework, the extent and requirement of such instruction are not considered necessary for program completion, thereby potentially limiting the genetic literacy of the current pool of public health professionals.

The completion of the Human Genome Project spurred the development of genomic applications to identify persons at increased risk for common chronic conditions, such as cancer and cardiovascular disease. These developments elevated expectations that genomics will usher in an era of \"personalized medicine,\" in which physicians and other health care practitioners can more precisely target preventive interventions and therapies based on the genomic profiles of individual patients. In recognition of the role that public health genomics can play in population-level health promotion, the US Department of Health and Human Services added genomics as a topic area to the Healthy People 2020 objectives in 2010, by recommending that women with a strong family history of breast and/or ovarian cancer be referred for genetic counseling and increasing the percentage of persons with newly diagnosed colorectal cancer to received genetic testing for Lynch syndrome.

IntroductionIn the last 60 years, newborn bloodspot screening (NBS) has expanded as a public health intervention from a single severe childhood genetic disease (SCGD) to up to as many as 80 SCGD and testing of ~40 million newborns/year worldwide. However, the gap between current NBS and its potential to increase the efficiency, effectiveness and global equity of healthcare delivery for SCGD is large and rapidly growing. There are now effective therapeutic interventions—drugs, diets, devices and surgeries—for up to 2000 SCGD. Since almost all SCGD can be identified by bloodspot genome sequencing, it has been a longstanding goal to supplement current NBS with genome sequencing-based NBS (gNBS) for all eligible SCGD. We recently described a novel gNBS platform (named Begin Newborn Genome Sequencing (BeginNGS)) with the potential to overcome several major challenges to gNBS (cost, scalability, false positives and an unprepared healthcare workforce). A pilot clinical trial of BeginNGS for 412 SCGD in a level IV neonatal intensive care unit (NICU) had a true positive rate of 4.2%, sensitivity of 83%, positive predictive value of 100% and clinical utility rate of 4.2%, indicating readiness of the platform for use in a powered, multicentre study.Methods and analysisThe BeginNGS study is a single group, international, multicentre, adaptive clinical trial to compare utility, acceptability, feasibility and cost-effectiveness of BeginNGS gNBS (experimental intervention) with standard NBS (control). A minimum of 10 000 neonates (aged <28 days, maximum of 100 000) will be enrolled across 25 racial, ethnic and ancestry populations and five enrolment site types (high-risk obstetrician offices, labour induction office visits, newborn nurseries, NICUs and well-baby visits). BeginNGS is gNBS for circa 2000 SCGD (currently 508 SCGD). The primary objective of the trial is to generate equitable evidence to support broad implementation of gNBS. Enrolled newborns receive both interventions (BeginNGS and standard of care NBS). Newborns who screen positive receive confirmatory testing and medical follow-up for at least 1 year to obtain outcomes data. The primary outcome measure is clinical utility, defined as the proportion of diagnoses identified by BeginNGS and state NBS during infancy that are likely to benefit (likely to have an improved outcome) from treatment. We hypothesise that BeginNGS has a greater rate of clinical utility than standard NBS. An adaptive design was chosen rather than a traditional, fixed design to allow accumulating results to make the trial more efficient, informative, equitable and ethical by addition or removal of SCGD and genetic variants, population enrichment (for under-represented racial, ethnic and ancestral groups) and sample size re-estimation. Adaptive design will also facilitate meta-analysis with other clinical trials of gNBS, providing greater power to test utility in ultra-rare SCGD. Parents will be approached (in person, via phone or via electronic communication) to provide informed consent to enrol their newborns prenatally, postnatally in newborn nurseries or NICUs or at well baby outpatient visits. This study is part of phase III of the BeginNGS programme. Patient and public voices have been engaged in the design and execution of each BeginNGS phase through individuals and groups joining the BeginNGS consortium and participating in the family and community engagement work group. gNBS has the potential to transform the way we diagnose and treat childhood genetic diseases. Preliminary data suggest that national adoption of BeginNGS for all births has the potential to improve outcomes of >50 000 US children per year.Ethics and disseminationThis study was approved by the WCG Clinical institutional review board on 14 February 2024, and the most recent amendment approved on 7 October 2025 (approval number 20235517). Study findings will be shared through research consortium workshops, national and international conferences, community presentations and peer-reviewed journals.Trial registration numberNCT06306521.

Although evidence is currently available for population-based genetic screening and testing of individuals and their family members for certain hereditary chronic disease conditions (Tier 1), few states have integrated these genomic applications into chronic disease prevention programs. State and territorial chronic disease directors (CDDs) could provide the leadership needed to deliver these applications in more states. The purpose of this study was to determine whether an association exists between current chronic disease genomics funding or specific state genomic activities and the level of knowledge and interests in genomics by these directors. Rogers’s diffusion of innovations (DIT) theory was used to explain the current climate of state chronic disease genomics and the need for an innovation champion to promote these evidence-based applications both in and out of the state health departments. A nonexperimental, cross-sectional, correlational survey of CDDs (N = 58) was performed using the Chronic Disease Director’s Survey and results were analyzed using chi-square, independent t test, ANOVA, logistic regression, and Pearson’s correlation coefficient. Results showed CDDs knowledge of genomics is unrelated to current state funding; however, CDD knowledge and interest in genomics was associated with inclusion of genetics in cancer control and cardiovascular health action plans, Tier 1 condition education, privacy and nondiscrimination laws, Behavioral Risk Factor Surveillance System (BRFSS) genomics questions, and frequent collaborations with outside entities. These results provide clear ideas to increase CDDs knowledge and interest in chronic disease genomics and potentially impact Tier 1 genomics implementation in more states.

Understanding long-term coastal evolution requires historical data, yet accessing reliable information becomes increasingly challenging for extended periods. While vertical aerial imagery has been extensively used in coastal studies since the mid-20th century, and satellite-derived shoreline measurements are now revolutionizing shoreline change studies, ground-based images, such as historical photographs and picture postcards, provide an alternative source of shoreline data for earlier periods when other datasets are scarce. Despite their frequent use for documenting qualitative morphological changes, these valuable historical data sources have rarely supported quantitative assessments of coastal evolution. This study demonstrates the potential of historical ground-oblique images for quantitatively assessing shoreline position and long-term change. Using Conceição-Duquesa Beach (Cascais, Portugal) as a case study, we analyze shoreline evolution over 92 years by applying a novel methodology to historical photographs and postcards. The approach combines image registration, shoreline detection, coordinate transformation, and rectification while accounting for positional uncertainty. Results reveal a significant counterclockwise rotation of the shoreline between the 20th and 21st centuries, exceeding estimated uncertainty thresholds. This study highlights the feasibility of using historical ground-based imagery to reconstruct shoreline positions and quantify long-term coastal change. The methodology is straightforward, adaptable, and offers a promising avenue for extending the temporal range of shoreline datasets, advancing our understanding of coastal evolution.

Surveys were conducted in commercial wheat and barley fields in the south central production regions of state of Paraná, Brazil, from 2011 to 2015. Spikes displaying visible Fusarium head blight symptoms were collected and the pathogen isolated from the tissues. The 754 Fusarium isolates recovered were identified by a high-throughput multilocus genotyping assay (MLGT) designed to identify trichothecene toxin-producing fusaria (i.e., formerly B-clade, but referred to here as F. sambucinum species complex lineage 1 [FSAMSC-1]) together with sequencing a portion of the translation elongation factor 1-α (TEF1) gene. One strain was discovered that appeared to be closely related to but phylogenetically distinct from F. praegraminearum based on the relatively low 97.7% TEF1 identity and positive genotype obtained with one of the two F. praegraminearum species-specific MLGT probes. Molecular phylogenetic analyses of a 10-gene data set resolved this novel FSAMSC-1 species and F. praegraminearum as sisters. Formally described herein as F. subtropicale, it is phenotypically distinct from the 22 other FSAMSC-1 species in that it produces mostly 1-3-septate macroconidia. Whole-genome sequence data were used to predict its potential to produce mycotoxins. Chemical analyses confirmed that F. subtropicale could produce the mycotoxins 4,15-diacetylnivalenol, butenolide, culmorin, and fusarin C in vitro, and the pathogenicity experiment revealed that F. subtropicale could infect but not spread in susceptible hard red spring wheat cultivar \"Norm.\"

Whilst common genetic variation in many non-coding genomic regulatory regions are known to impart risk of colorectal cancer (CRC), much of the heritability of CRC remains unexplained. To examine the role of recurrent coding sequence variation in CRC aetiology, we genotyped 12,638 CRCs cases and 29,045 controls from six European populations. Single-variant analysis identified a coding variant (rs3184504) in SH2B3 (12q24) associated with CRC risk (OR = 1.08, P = 3.9 × 10 −7 ) and novel damaging coding variants in 3 genes previously tagged by GWAS efforts; rs16888728 (8q24) in UTP23 (OR = 1.15, P = 1.4 × 10 −7 ); rs6580742 and rs12303082 (12q13) in FAM186A (OR = 1.11, P = 1.2 × 10 −7 and OR = 1.09, P = 7.4 × 10 −8 ); rs1129406 (12q13) in ATF1 (OR = 1.11, P = 8.3 × 10 −9 ), all reaching exome-wide significance levels. Gene based tests identified associations between CRC and PCDHGA genes (P < 2.90 × 10 −6 ). We found an excess of rare, damaging variants in base-excision (P = 2.4 × 10 −4 ) and DNA mismatch repair genes (P = 6.1 × 10 −4 ) consistent with a recessive mode of inheritance. This study comprehensively explores the contribution of coding sequence variation to CRC risk, identifying associations with coding variation in 4 genes and PCDHG gene cluster and several candidate recessive alleles. However, these findings suggest that recurrent, low-frequency coding variants account for a minority of the unexplained heritability of CRC.