The Lancet Commission on precision health: equitable, data-driven health outcomes for all.
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Journal Article↗
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Gene-environment interactions within a precision environmental health framework.
Understanding the complex interplay of genetic and environmental factors in disease etiology and the role of gene-environment interactions (GEIs) across human development stages is important. We review the state of GEI research, including challenges in measuring environmental factors and advantages of GEI analysis in understanding disease mechanisms. We discuss the evolution of GEI studies from candidate gene-environment studies to genome-wide interaction studies (GWISs) and the role of multi-omics in mediating GEI effects. We review advancements in GEI analysis methods and the importance of large-scale datasets. We also address the translation of GEI findings into precision environmental health (PEH), showcasing real-world applications in healthcare and disease prevention. Additionally, we highlight societal considerations in GEI research, including environmental justice, the return of results to participants, and data privacy. Overall, we underscore the significance of GEI for disease prediction and prevention and advocate for integrating the exposome into PEH omics studies.
Humans↗
Educational approaches to enhance genomics competencies among health sciences students: A scoping review with implications for nursing education.
INTRODUCTION: Genomics is increasingly recognized as essential for precision health, yet its integration into undergraduate nursing and other health sciences curricula remains limited. Persistent gaps in genomics literacy and confidence among students and professionals indicate that current educational approaches may not adequately prepare graduates for genomics-informed care and precision health. The aim of this review is to map educational approaches and methods used to enhance genomic competencies among undergraduate health sciences students and discuss implications for nursing education. METHODS: Scoping review, reported in accordance with PRISMA-ScR recommendations. Systematic search in CINAHL Ultimate, ERIC, and MEDLINE for studies published in English between January 2015 and December 2024 was undertaken. Data were charted using a standardized extraction form and synthesized descriptively and narratively, grouping interventions by educational approach, methods, strategies, techniques, and tools. RESULTS: Thirty-one studies were included, mostly from the United States, involving primarily medical and nursing students. Educational approaches centered on experiential and practice-based learning, simulation, case- and problem-based learning, flipped classrooms, collaborative or interprofessional learning, narrative and arts-based methods, and technology-enhanced strategies such as virtual labs, online modules, and digital storytelling. These approaches were associated with improvements in genomic knowledge, application to clinical scenarios, ethical awareness, engagement, and self-reported confidence, although outcomes were predominantly short-term. CONCLUSIONS: Genomics education for health sciences students is characterized by diverse, largely experiential and student-centered approaches. Integration into curricula remains fragmented and often focused on genetics rather than broader genomics and precision health. Nurse educators should prioritize integrated, authentic, and ethically informed genomics education, supported by educator development and digital technologies, including generative AI, to prepare graduates for precision nursing care.
Genomics↗
Gene polymorphisms associated with progression of primary open-angle glaucoma: A systematic review.
Glaucoma is the leading global cause of irreversible blindness, with primary open-angle glaucoma (POAG) its most prevalent subtype. While elevated intraocular pressure is a major risk factor, glaucoma progression is multifactorial, influenced by genetic, environmental, vascular and mechanical factors. Genetic polymorphisms have been linked to both POAG susceptibility and progression, yet most studies focus on risk factors for disease onset rather than progression. We provide an overview of the current literature on gene polymorphisms associated with POAG progression. We conducted a systematic search following PRISMA guidelines in MEDLINE, EMBASE, Web of Science, Cochrane Library, Scopus and Public Health Genomics and Precision Health Knowledge Base. Eligible studies investigated associations between genetic variants and structural or functional markers of glaucoma progression in adult-onset POAG patients. Eighteen articles were included. HLA class I haplotypes (A1-B8 and A2-B40) and MYOC.mt1+ carriers showed faster progression of optic nerve head damage. The APOE ε4 allele was linked to faster macular thinning in normal tension glaucoma patients. BDNF rs6265 Val/Val homozygotes exhibited accelerated retinal nerve fiber layer loss, particularly in females. TGFBR3-CDC7 (rs1192415: G) and MYOC.mt1+ carriers experienced accelerated visual field deterioration. Carriers of GAS7 (rs9913911: AA), IL1B (rs1143627: CT and rs16944: CT) and OPTN (rs2234968) had a higher likelihood of requiring surgery. Variants in ABCA1, CDKN2B-AS, eNOS and Piezo1 showed inconclusive results. These findings support a role for genetic polymorphisms in POAG progression and highlight the potential of genetic screening to identify patients at increased risk for rapid disease progression.
Disease progression↗
Perceived job stress and mental health in precision machine workers of Japan: a 2 year cohort study.
OBJECTIVES: To determine whether perceived job stress affects mental health in occupational settings. METHODS: A 2 year cohort study was conducted. Initially, a survey including the general health questionnaire (GHQ) and a questionnaire about perceived job stress was carried out. Of 462 workers who initially showed a GHQ score of < or = 7,310 were successfully followed up for 2 years. The 2 year risks of developing mental ill health (a GHQ score > or = 8) were assessed relative to perceived job stress. To control for potential confounding factors, multiple logistic regression analyses were conducted. RESULTS: The overall 2 year risk for developing mental ill health was high at 57.7%. Workers who reported aspects of perceived job stress showed a greater 2 year risk than those without stress. Multiple logistic regression analyses showed that some components of perceived job stress were associated with a higher 2 year risk, among which "not allowed to make mistakes" showed the largest adjusted odds ratio (OR) (95% confidence interval (95% CI) of 2.37 (1.32 to 4.29). "Poor relationship with superior" had a significant effect on mental health only in women, with an adjusted OR (95% CI) of 3.79 (1.65 to 8.73). CONCLUSIONS: Certain specific items of perceived job stress seem to be associated with mental ill health in workers. These could broadly be described as job strain, or job demand items. The type of job stress that predicts mental health may be dependent on the characteristics of the workplace investigated.
Adult↗
Engagement and Retention in Precision Public Health: A Cascade Analysis of Two Cluster Randomized Trials.
INTRODUCTION: When research fails to reach and engage all populations who might benefit from study findings, it can compromise scientific validity and ultimately health equity. Few studies have systematically examined factors driving study engagement through longitudinal intervention research. This project examined sociodemographic, geographic, and structural influences on engagement and attrition across the participation "cascade" (outreach, enrollment, retention) for two large-scale multilevel precision medicine and precision prevention trials for smoking and lung cancer screening. METHODS: Modified Poisson regression models were used to determine the factors associated with study engagement based on sociodemographic and geographical factors at each step in the cascade of participation, from initial outreach through retention at 12 months post-enrollment. Secondary analyses examined the cascade among the subset of patients who had active electronic patient portals and were approached via the portal. RESULTS: A total of 24,366 patients were approached for participation. Race, Social Vulnerability Index (SVI), insurance status, and distance from the study site were significantly associated with engagement at various points in the cascade. Black patients were more likely than White patients to be reached (48.9% vs 47.1%; p = 0.022) and to complete eligibility screening (52.8% vs. 38.4%; p < 0.001), but less likely to consent to participate (56.7% vs 69.8%; p < 0.001) and complete genetic testing (58.5% vs. 69.8%; p = 0.003). Patterns of engagement through electronic patient portal versus non-electronic recruitment channels also differed by race- and place-based factors, with Black patients being less likely than White patients to respond in the portal (8.8% vs 15.5%; p < 0.001), and patients who reside farther from the study site being more likely to respond in the portal compared to those who live closer (14.9% vs 12.5%; p < 0.001). CONCLUSIONS: These findings highlight the need for tailored, stage-specific engagement strategies to ensure representative participation in genomic and behavioral intervention research to advance the integration of genomics into public health practice.
Journal Article↗
A global digital navigator of human health for precision medicine.
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Journal Article↗
Genomic competence in nurse practitioner practice: Bridging the gap between knowledge and clinical application.
Genomics is increasingly integral to nurse practitioner (NP) practice, informing risk assessment, diagnosis, treatment selection, and precision care. Despite expanded clinical responsibilities, recent evidence demonstrates that NP genomic knowledge remains only moderate, mirroring earlier findings among registered nurses. This persistent gap highlights the need to move beyond foundational education toward applied, practice-based genomic competency. In addition to strengthening workforce preparedness, NPs must advocate for equitable access to genomic services through organizational, state, and federal policy initiatives. Advancing genomic competence and advocacy is essential to improving patient outcomes, reducing disparities, and ensuring equitable implementation of precision health care.
Humans↗
Health symptoms and exposure to organophosphate pesticides in farmworkers.
BACKGROUND: Few studies have examined the relationship between reported health symptoms and exposure to organophosphate (OP) pesticides. METHODS: Fisher's exact test was used to assess the relationship between self-reported health symptoms and indicators of exposure to OP pesticides in 211 farmworkers in Eastern Washington. RESULTS: The health symptoms most commonly reported included headaches (50%), burning eyes (39%), pain in muscles, joints, or bones (35%), a rash or itchy skin (25%), and blurred vision (23%). Exposure to pesticides was prevalent. The proportion of detectable samples of various pesticide residues in house and vehicle dust was weakly associated with reporting certain health symptoms, particularly burning eyes and shortness of breath. No significant associations were found between reporting health symptoms and the proportion of detectable urinary pesticide metabolites. CONCLUSIONS: Certain self-reported health symptoms in farmworkers may be associated with indicators of exposure to pesticides. Longitudinal studies with more precise health symptom data are needed to explore this relationship further.
Adolescent↗
Organophosphate toxicity and occupational exposure.
The ubiquitous organophosphates present a continuing health hazard in agriculture, public health eradication programmes and as chemical warfare agents. Despite significant progress in understanding the potential mechanisms of toxicity far beyond the commonly accepted mechanism of cholinesterase inhibition in intentional exposures, the precise health effects following occupational exposures are yet to be completely defined. A much greater understanding exists of the clinical features of organophosphate poisoning. These are characterized by a triphasic response involving an initial acute cholinergic phase, an intermediate syndrome (both associated with high mortality) and a disabling but non-lethal delayed polyneuropathy. The delayed polyneuropathy may occur in the absence of the cholinergic or intermediate phases. However, progress is still required in order to improve the quantification and assessment of occupational exposures and the implementation of appropriate preventive measures. Finally, evidence-based guidelines for appropriate or optimal therapeutic interventions following poisoning are required urgently and collaborative work with colleagues in developing countries, where the occurrence of organophosphate exposures is more frequent, may provide the answers.
Cholinesterases↗
Representation of Alzheimer Disease and Related Dementias in a Statewide Population Genomics Cohort: Early Findings from In Our DNA SC.
Alzheimer Disease and Related Dementias (ADRD) affect more than 125,000 individuals in South Carolina, yet equitable representation in population genomics initiatives remains a concern. We conducted a cross-sectional descriptive analysis of 247 In Our DNA SC participants aged 50 to 89 years with at least 1 ADRD-related diagnosis, identified using ICD-10 codes, to characterize demographic and clinical features and to compare the cohort with statewide ADRD estimates. Most participants were aged 65 years or older (82.2%), female (52.2%), and White (93.1%), while only 5.3% identified as Black. Nearly half had a Charlson Comorbidity Index score of 4 or greater (48.6%), and 49.5% had at least 10 years of longitudinal electronic health record data. Compared with statewide ADRD estimates, Black individuals were substantially underrepresented despite comprising ∼one-third of ADRD cases in South Carolina. These findings highlight the need for continued efforts to improve representation and support equitable, generalizable precision health research.
Humans↗
Health risk assessment of inorganic arsenic: an umbrella review.
Inorganic arsenic (iAs) is a toxic environmental pollutant linked to serious health risks, prompting global regulatory efforts. This study identifies major health conditions associated with iAs exposure using text network analysis, and assesses health risk assessments through an umbrella review and dose-response analysis. It synthesizes previous systematic reviews to offer a broader perspective on iAs-related health effects. An optimized text network analysis-based search strategy was applied across multiple databases to identify relevant systematic reviews. An umbrella review framework was employed to synthesize and reinterpret findings across systematic reviews. The methodological quality of included systematic reviews was assessed using the A MeaSurement Tool to Assess systematic Reviews 2 tool. Extracted data on study characteristics, exposure levels, and risk estimates were analyzed to evaluate the dose-response relationship between iAs exposure and health outcomes. From 922 systematic reviews, 36 were included and categorized into 10 health condition groups. For example, seven SRs found a significant dose-response relationship between iAs and bladder cancer, with one systematic review reporting relative risks of 2.70, 4.20, and 5.80 at 10, 50, and 150 µg/L, respectively. Individual study analysis further showed that each 10 µg/L increase in iAs raised bladder cancer risk by 3.11 % (p=0.003). iAs exposure is associated with hypertension, diabetes, cardiovascular disease, and adverse fetal outcomes. Dose-dependent increases in bladder cancer, lung cancer, and hypertension risks were observed. These findings support more precise health risk assessments and regulatory strategies.
Humans↗
Overview of tritium: characteristics, sources, and problems.
Tritium has certain characteristics that present unique challenges for dosimetry and health-risk assessment. For example, in the gas form, tritium can diffuse through almost any container, including those made of steel, aluminum, and plastics. In the oxide form, tritium can generally not be detected by commonly used survey instruments. In the environment, tritium can be taken up by all hydrogen-containing molecules, distributing widely on a global scale. Tritium can be incorporated into humans through respiration, ingestion, and diffusion through skin. Its harmful effects are observed only when it is incorporated into the body. Several sources contribute to the inventory of tritium in our environment. These are 1) cosmic ray interaction with atmospheric molecules; 2) nuclear reactions in the earth's crust; 3) nuclear testing in the atmosphere during the 1950s and 1960s; 4) continuous release of tritium from nuclear power plants and tritium production facilities under normal operation; 5) incidental releases from these facilities; and 6) consumer products. An important future source will be nuclear fusion facilities expected to be developed for the purpose of electricity generation. The principal health physics problems associated with tritium are 1) the determination of the parameters for risk estimation with further reduction of their uncertainties (e.g., relative biological effectiveness and dose-rate dependency); 2) risk estimation from complex exposures to tritium in gas form, tritium in oxide form, tritium surface contamination, and other tritium-contaminated forms, with or without other ionizing radiations and/or nonionizing radiations; 3) the dose contributions of elemental tritium in the lung and from its oxidized tritium in the gastrointestinal tract; 4) prevention of tritium (in oxide form) intake and enhancement of tritium (oxide form) excretion from the human body; 5) precise health effects information for low-level tritium exposure; and 6) public acceptance of tritium leakage and waste disposal from reactors and fuel reprocessing plants.
Environmental Pollutants↗
Mutagenicity of benzo(a)pyrene in uninduced tissues from BALB/c mice and Sprague-Dawley rats as an index of possible health risks using the Salmonella mutagenicity assay.
The mutagenicity of benzo(a)pyrene [B(a)P] in uninduced tissues from Sprague-Dawley rats and BALB/c mice resulted in no age, sex or tissue-related differences when S9 preparations from lung, kidney and spleen were used in the Salmonella mutagenicity assay. Liver S9 fractions from both species resulted in a significantly greater number of His+ revertants (TA98) per plate than observed on the control plates (spontaneous reversion rate). Liver homogenates from adult Sprague-Dawley rats showed a significantly lower potential to activate B(a)P than homogenates from adult BALB/c mice. In both species, male liver microsomal enzymes had a greater potential to activate B(a)P than female microsomal enzymes. These data indicated that in uninduced tissues B(a)P may not be a very powerful mutagenic agent. More detailed in vitro and in vivo studies are needed to assess the precise health risks associated with this environmental pollutant.
Animals↗
Toward an integrated resource for pharmacogenomics (PGx): Survey findings from the genomic medicine communities.
PURPOSE: Pharmacogenomics (PGx) is a critical component of precision health care that aims to improve drug efficacy and reduce adverse events. Terminologies and standards have not always aligned between PGx and broader genomic medicine communities, which is a barrier to PGx implementation. An updated assessment of community barriers, needs, and perspectives is critical to enable more standardized terminologies and interpretation frameworks. METHODS: The Clinical Genome Resource's PGx Interpretation Committee (PGxIC, formerly referred to as the PGx Working Group, PGxWG) conducted 2 surveys targeting the PGx and genomic medicine communities (n = 508) to evaluate perspectives on PGx clinical validity and actionability frameworks, as well as other barriers to PGx implementation. Surveys were tailored toward self-reported familiarity with PGx. Data primarily consisted of free text, which were analyzed using qualitative content analysis methods. RESULTS: Survey responses indicated conflation of terminology across disciplines, including confusion around differing definitions of terms in PGx and non-PGx contexts. Data also indicated broad support for leveraging existing PGx guidelines and framework structures alongside the standardization of approaches and centralization of resources. CONCLUSION: These novel survey results demonstrate broad consensus on the importance of integrating PGx into clinical practice, including support for development of gene-drug response clinical validity and actionability frameworks aligned with Clinical Genome Resource's frameworks for gene-disease relationships.
Humans↗
A narrative review of what cohorts have taught us and how they have laid the foundation for much of our understanding of type 2 diabetes.
This narrative review provides a historical perspective on how observational research on type 2 diabetes has been developed and consolidated over the last 50 years and how well-designed cohort studies will provide us with knowledge for research and practice in the future and aid guideline development. We have included data from a large number of cohorts from every continent that have been used to study the development and/or progression of type 2 diabetes, including cohorts that are general population-based, disease-based, intervention-based and registry-based. We have structured the results from the past 50 years based on the following themes: diagnosis and screening, complications, risk factors and pathophysiology. We also discuss the strengths and weaknesses of observational research when compared with other research designs. Finally, we discuss the emerging and future directions for type 2 diabetes research using cohorts, which include novel developments, such as artificial intelligence, precision health and the exposome. We conclude that cohort research has significantly advanced our understanding of type 2 diabetes and aided guideline development, and complements experimental work, such as human randomised controlled trials and animal studies. Both approaches are essential and complementary in our pursuit to provide a more comprehensive understanding of the development and progression of type 2 diabetes, and to change dogma, practice and policies for better outcomes.
Humans↗
Menopause.
Elevating women from the nadir of ovarian hypofunction has been a major driving force in developing hormonal strategies for the management of menopause. As indicated by recent evidence, however, this may have resulted in unacceptable morbidity in several women. Likewise, the use of menstrual cessation as the hallmark of menopause may have served the counterproductive effect of delaying the onset of appropriate preventive pharmacologic and non-pharmacologic strategies until the later years of life. Preventive and therapeutic strategies that target the menopausal phase of life exclusively are grossly inadequate. Unquestionably, the controversies that surround the precise health implications of menopause deal mainly with the risk of chronic disease. Health professionals are best advised to develop menopausal intervention strategies that parallel the continuum of a woman's life, beginning in adolescence and extending into later life. Preventive screening includes the following: History Relevant medical history Develop risk profile of chronic diseases (e.g., cardiovascular disease, cancer, osteoporosis) Dietary history Sexual history Physical exercise history Medication history Physical examination Body mass index evaluation Breast examination and instruction in examination technique Bimanual pelvic examination Nutritional assessment Investigation Cholesterol levels Stool for occult blood Thyroid function tests Papanicolaou smears HIV testing if positive risk factors Psychosocial evaluation Family relationships Job satisfaction Sexuality High-risk social behaviors Review perception of self-health Annual health examination is encouraged in all perimenopausal women. Additionally, preventive screening should be instituted, as appropriate, in all women of reproductive age.
Aged↗
[Why evaluate the quality of life in patients with bronchial obstruction?].
Quality of life, more precisely health related quality of life, is gaining basic importance in evaluating of patient's health status and results of medical interventions. On the example of patients with bronchial obstruction is demonstrated that quality of life evaluation, although not usually used in clinical practice yet, is in significant correlation with some of usual clinical measures; moreover, it brings otherwise inaccessible information about patient's subjective assessment of his disease and his health situation.
Humans↗