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Little is known about health-related quality of life (HRQoL) in familial intellectual disability. Economic evaluations of interventions for familial intellectual disability require HRQoL measured through utility data.
Aims
We aimed to estimate HRQoL in individuals with familial intellectual disability and their carers and spouses, and identify factors associated with HRQoL.
Method
Families with at least one member with familial intellectual disability were recruited and completed a tailored questionnaire. HRQoL was measured with the Assessment of Quality-of-Life 8D for carers and spouses, and the Health Utilities Index 2 (HUI2) and 3 (HUI3) for individuals with intellectual disability.
Results
A total of 108 carers and 35 spouses, caring for 171 individuals with intellectual disability, completed the survey. Health utility values for carers (0.58) and spouses (0.63) were significantly lower than age- and gender-adjusted population norms (0.8) (p < 0.05). Utility values for individuals with intellectual disability were 0.51 (HUI2) and 0.31 (HUI3), also significantly below age-adjusted norms (p < 0.05). In carers, approximately half reported a mental health condition, and multivariate regression showed that having a mental health disorder, financial stress and caring for someone with aggressive behaviour were associated with lower HRQoL. In individuals with intellectual disability, greater disability severity and need for full-time supervision were associated with lower HRQoL, whereas living with their carer was associated with higher HRQoL.
Conclusions
Familial intellectual disability is associated with significantly lower quality of life of individuals with intellectual disability, their carers and their spouses. HRQoL across the family may help guide planning of health and social support, and demonstrate to policy makers the additional support needs for these families.
The introduction of high-throughput sequencing and omics has expanded the toolkit available for lichen researchers. Genomic, transcriptomic and proteomic data from lichens can now be produced and interrogated relatively easily. Here, we discuss several areas within lichen biology, which have benefited from these methods. These include evolutionary biology of lichen symbionts, their biochemistry, and studies on lichen organismal composition. We discuss metagenomics as one of the most powerful methods to explore lichens as complex symbiotic organisms. Based on recent advances in biological methods, as well as current knowledge gaps in lichen biology, we propose several opportunities for research on the lichen symbiosis, such as studies of spatial organization of lichen thalli and a way to complement data-driven hypothesis-generating omics research with experimental approaches.
Salmonella Enteritidis is typically transmitted to humans via consumption of eggs or poultry meat. In July 2023, Denmark and Austria concurrently reported two outbreaks of genetically distinct S. Enteritidis sequence type (ST) 11. In both countries, cases were identified as part of the outbreaks using core-genome Multilocus Sequence Typing (cgMLST) between 1st of January and 1st of October, 2023. Outbreak investigations were conducted and included interviews with cases, food tracing, and, using cgMLST, comparisons of human, food, and environmental isolates. In the EU, 207 cases across 11 countries were found. Patient food histories pointed towards chicken, often sold as kebab meat. Extensive traceback investigations from affected restaurants and wholesalers in Austria and Denmark identified chicken meat produced in Poland as the vehicle of the outbreaks. Due to the death of one patient in Austria, the food safety authorities initiated more food safety controls for this food product, which led to food recalls. Recalls of specific chicken products from Poland were also conducted in Denmark. Despite national interventions and regulations targeting poultry producers, the EU remains collectively vulnerable to large-scale food contamination events originating in a single member state. Effective international and cross-sector collaboration was crucial to identifying the vehicle of these outbreaks.
Advances in the use of genomic technologies in newborn bloodspot screening (NBS) raise ethical challenges that should be systematically and critically considered. We examine how ethical analyses have been incorporated into health technology assessments (HTA) relevant to genomic NBS to inform how ethics might be incorporated in Australian HTAs of genomic NBS.
Methods
We conducted an inductive content analysis of publicly available HTA reports and summaries relevant to genomic NBS published between January 2013 and June 2023 across 18 countries. Eligible reports related to genetic or genomic testing or population screening. These reports were screened for inclusion of ethical considerations and coded with NVivo for their presence, structure, and reported influence on decision making. Twelve reports with substantial ethical discussion were examined in-depth through qualitative thematic analysis.
Results
One hundred and ninety reports met our inclusion criteria, with Spain, Australia, and the United Kingdom heavily represented. Ethics was mentioned in 39 percent of reports, and ethical analysis appeared to influence recommendations in 13 percent. When present, ethical considerations focused on equity, harm, and autonomy. Consideration of ethical issues was mostly unstructured, descriptive, and lacked normative conclusions.
Conclusions
Although a range of ethical considerations were raised in the HTA reports relevant to genomic NBS, ethical analyses were generally inconsistently applied or reported, and the way in which ethics has influenced HTA recommendations was not always clear. Further work is needed to understand how the role of ethics in Australian HTAs of genomic NBS could be strengthened to ensure ethically defensible decisions.
The rapid expansion of omics technologies has created new opportunities to understand inter-individual variations in metabolic responses to diet. Such advances are particularly relevant for Asian populations, which exhibit distinct metabolic characteristics, including increased visceral adiposity, reduced β-cell reserves, and heightened susceptibility to type 2 diabetes at lower BMI levels, compared to Western populations. This review synthesizes the current evidence on metabolomic and genomic biomarkers associated with metabolic health in Asians and outlines the mechanistic pathways through which diet influences these biomarkers. Metabolomic signatures, such as lysophosphatidylcholines, micronutrient-derived metabolites, amino acid profiles, and oxidative stress indicators, have demonstrated strong potential for the early detection of metabolic dysfunction. In addition, carbohydrate-related markers of glycemic excursions, microbiome-derived metabolites, and diet-responsive fatty acid profiles may help capture the heterogeneity in postprandial regulation and diet responsiveness. Genetic variants enriched in Asian populations, including TMEM182- and NPC1L1-related polymorphisms, further modulate lipid metabolism, adipogenesis, and glycemic regulation. We also highlighted β-cell and nutrient-handling loci (e.g. KCNQ1, TCF7L2, SLC30A8, FUT2/6, BCMO1, and FADS1/2) as mechanistic anchors for biologically stratified dietary personalization. We discuss nutrient–metabolite interactions – particularly those involving dietary fibre and legumes – within culturally patterned Asian diets and highlight culturally consistent dietary strategies supported by multi-omics evidence. Finally, we propose a translational framework for implementing precision nutrition in Asia, emphasizing analytical standardization, clinician training, digital health integration, and equity considerations. Together, these insights underscore the potential of multi-omics approaches to inform individualized dietary recommendations and improve metabolic health across diverse Asian populations.
Biological sex is central to our continued existence. Yet the mechanism that determines sex, rather than being rational and conserved, is a battlefield of warring genes, sexual antagonism, unbalanced expression and self-destructing sex chromosomes that come in bewildering varieties.Drawing on 50 years of research in three fields in which the author has played key roles, this unique book explores the function, activity and evolution of sex genes and chromosomes in humans and other animals. Providing eye-witness stories of early discoveries and modern genomic insights, it examines how genes and chromosomes determine sex; delving into key breakthroughs, theories on gene and chromosome function, and the enormous scope for variation in body traits and behaviour.Reflecting the huge advances in genetics and genomics that help explain the wonders of human existence and evolution, this book is a fascinating resource for anyone interested in the biology of sex– particularly students and researchers in reproduction, genetics and evolution.
Despite omics technologies gaining traction in clinical settings, particularly in oncology, challenges persist in their widespread adoption due to the pre-requisite robust evidence supporting efficacy and cost-effectiveness. This study aims to explore the experiences of organizations working in the health technology assessment (HTA) field in evaluating omics technologies, with a particular focus on the adoption and application of specific assessment frameworks.
Methods
We conducted a global survey to gather insights into current practices and frameworks used in HTA evaluations of omics technologies.
Results
We gathered responses from thirty-nine participants representing organizations across twenty-nine countries and five continents. Among them, 51 percent (n = 20) reported experience in evaluating omics technologies, including multi-omics tests for early disease detection, biomarker-based cancer diagnostics, and advanced genomic sequencing techniques. Only three organizations employed specific assessment frameworks: the Adelaide Health Technology Assessment Agency in Australia, the Netherlands Cancer Institute, and the Andalusian HTA Agency in Spain. These frameworks address key evaluation aspects such as analytical and clinical validity, clinical and personal utility, organizational impact, and ethical, legal, and social implications of omics technologies.
Discussion
Despite their relevance, the limited adoption of tailored frameworks highlights the need for more structured and context-specific approaches to facilitate the integration of omics technologies into healthcare systems. Collaborative efforts among stakeholders, including patients, healthcare providers, policymakers, and industry representatives, are crucial for devising robust evaluation strategies addressing the complexities of omics technologies comprehensively.
Research participants should be informed of genetic test results that could impact their health, particularly when they have expressed interest in receiving such information. Furthermore, the return of genetic test results is essential to improve trust, transparency, and health equity. However, investigators often encounter barriers in returning genetic test results to research participants. We examined genomic research at a large, research-intensive medical school and found less than 6% of protocols included plans to return results to participants. This study describes our development of protocols for returning primary and secondary genetic test results and implementation of a Genomic Return of Results (gROR) service. This arose through a collaboration with experts in community engagement, genetics, and pathology to consider consent adequacy, analytical/clinical validity, and clinical utility when returning results. The gROR service reduces investigator burden and provides participants with genetic information and guidance to address any potential health risks. Genetic results are returned by a genetic counselor at no cost to participants or their family. Investigator costs are subsidized to incentivize the delivery of actionable genetic test results to research participants. Our approach prioritizes transparency, accessibility, and informed decision-making, thereby promoting equitable sharing of genetic knowledge and personalized healthcare interventions.
Digital tools offer promising solutions to improve eligibility screening, recruitment, and retention in research, particularly in human genetic studies where representative sampling is critical. SMS text messaging has been found effective in population-based survey research, but evidence of its impact on genetic study recruitment – and how it varies by demographics – is limited.
Objective:
We examined the effect of tailored SMS messages on enrollment in a population-based genomic screening study. We assessed differences in message open and consent rates across four message types and explored how these outcomes varied by demographic factors.
Methods:
Participants were randomized to receive one of four SMS messages emphasizing different social values: generic, individual impact, community impact, or research discoveries. We calculated descriptive statistics for open and consent rates and used generalized linear logistic regression and Pearson’s Chi-Square Test to assess demographic differences.
Results:
Among 15,977 messages sent, 2.4% were opened (n = 382), and 35.3% of those who opened consented (n = 135). Females were more likely than males to open (3.1% vs. 1.6%) and consent (1.1% vs. 0.5%). Individuals aged 30–39 had the highest open rate (3.4%), and those 40–49 had the highest consent rate (1.6%). Message type was not significantly associated with open or consent rates.
Conclusion:
Sociodemographic factors were more predictive of engagement than message content. Tailoring messages by demographic group may improve recruitment in genomic studies. Future research should explore the drivers of participant engagement in digital recruitment strategies.
Biodiversity knowledge gaps and biases persist across low-income tropical regions. Genetic data are essential for addressing these issues, supporting biodiversity research and conservation planning. To assess progress in wildlife genetic sampling within the Philippines, I evaluated the scope, representativeness, and growth of publicly available genetic data and research on endemic vertebrates from the 1990s through 2024. Results showed that 82.3% of the Philippines’ 769 endemic vertebrates have genetic data, although major disparities remain. Reptiles had the least complete coverage but exhibited the highest growth, with birds, mammals, and amphibians following in that order. Species confined to smaller biogeographic subregions, with narrow geographic ranges, or classified as threatened or lacking threat assessments were disproportionately underrepresented. Research output on reptiles increased markedly, while amphibian research lagged behind. Although the number of non-unique authors in wildlife genetics studies involving Philippine specimens has grown steeply, Filipino involvement remains low. These results highlight the uneven and non-random distribution of wildlife genetic knowledge within this global biodiversity hotspot. Moreover, the limited participation of Global South researchers underscores broader inequities in wildlife genomics. Closing these gaps and addressing biases creates a more equitable and representative genetic knowledge base and supports its integration into national conservation efforts aligned with global biodiversity commitments.
Scientific discovery, particularly in disciplines such as physics and biology, often asks if there remains room for truly transformative innovations. But microbiome research faces considerable challenges stemming from the intricacies of microbial communities. These are subject to dynamic processes, such as horizontal gene transfer, and exhibit great variability across different spatial scales. Genomic sequencing and molecular biology removed the constraint of traditional isolation techniques. Microbiome research typically unfolds along two distinct trajectories: exploration and hypothesizing. However, exploratory studies emphasize sequencing entire communities to develop foundational datasets, while hypothesis-driven research adopts a more structured framework aimed at testing specific ecological theories. Merging these approaches, particularly through the integration of emerging technologies such as machine learning, holds significant potential for driving future discoveries. The combination of these methodologies considered may help unravel critical ecosystem services rendered by microbial communities, both within host-associated systems and in broader environmental contexts.
This chapter discusses the common occurrence of miscarriage in pregnancy and reviews the current genetic methodologies, from cytogenetics to genomics, available to aid individuals and families suffering from pregnancy loss. While often unexplored, a genetics evaluation should be offered in all cases of pregnancy loss given the high diagnostic yield and therapeutic value of providing families with answers. This chapter walks the reader through the available technologies to evaluate chromosome content, which provide an explanation for approximately half of pregnancy losses, as well as current and future genetic and genomic evaluations that can be used to further increase diagnostic yield and identify couples at increased risk of recurrence.
The attitudes toward genomics and precision medicine (AGPM) measure examines attitudes toward activities such as genetic testing, gene editing, and biobanking. This is a useful tool for research on the ethical, legal, and social implications of genomics, a major program within the National Institutes of Health. We updated the AGPM to explore controversies over mRNA vaccines. This brief report examines the factor structure of the updated AGPM using a sample of 4939 adults in the USA. The updated AGPM’s seven factors include health benefits, knowledge benefits, and concerns about the sacredness of life, privacy, gene editing, mRNA vaccines, and social justice.
Despite the blaze of advancing knowledge on its complex genetic architecture, hypertension remains an elusive condition. Genetic studies of blood pressure have yielded bitter-sweet results thus far with the identification of more than 2,000 genetic loci, though the candidate causal genes and biological pathways remain largely unknown. The era of big data and sophisticated statistical tools has propelled insights into pathophysiology and causal inferences. However, new genetic risk tools for hypertension are the tip of the iceberg, and applications of genomic technology are likely to proliferate. We review the genomics of hypertension, exploring the significant milestones in our current understanding of this condition and the progress towards personalised treatment and management for hypertension.
An increasing number of observational studies have reported associations between frailty and mental disorders, but the causality remains ambiguous.
Aims
To assess the bidirectional causal relationship between frailty and nine mental disorders.
Method
We conducted a bidirectional two-sample Mendelian randomisation on genome-wide association study summary data, to investigate causality between frailty and nine mental disorders. Causal effects were primarily estimated using inverse variance weighted method. Several secondary analyses were applied to verify the results. Cochran's Q-test and Mendelian randomisation Egger intercept were applied to evaluate heterogeneity and pleiotropy.
Results
Genetically determined frailty was significantly associated with increased risk of major depressive disorder (MDD) (odds ratio 1.86, 95% CI 1.36–2.53, P = 8.1 × 10−5), anxiety (odds ratio 2.76, 95% CI 1.56–4.90, P = 5.0 × 10−4), post-traumatic stress disorder (PTSD) (odds ratio 2.56, 95% CI 1.69–3.87, P = 9.9 × 10−6), neuroticism (β = 0.25, 95% CI 0.11–0.38, P = 3.3 × 10−4) and insomnia (β = 0.50, 95% CI 0.25–0.75, P = 1.1 × 10−4). Conversely, genetic liability to MDD, neuroticism, insomnia and suicide attempt significantly increased risk of frailty (MDD: β = 0.071, 95% CI 0.033–0.110, P = 2.8 × 10−4; neuroticism: β = 0.269, 95% CI 0.173–0.365, P = 3.4 × 10−8; insomnia: β = 0.160, 95% CI 0.141–0.179, P = 3.2 × 10−61; suicide attempt: β = 0.056, 95% CI 0.029–0.084, P = 3.4 × 10−5). There was a suggestive detrimental association of frailty on suicide attempt and an inverse relationship of subjective well-being on frailty.
Conclusions
Our findings show bidirectional causal associations between frailty and MDD, insomnia and neuroticism. Additionally, higher frailty levels are associated with anxiety and PTSD, and suicide attempts are correlated with increased frailty. Understanding these associations is crucial for the effective management of frailty and improvement of mental disorders.
This chapter reviews anthropological genetic inquiries into the population dynamics in the Caucasus. Genetic and genomic methods are introduced along with the problems of identifying specific regions of origins for genetic populations. Also discussed are the general genetic characteristics of the Caucasus and neigboring areas of the Near East and steppe; gene-language-geography studies; genetic affinities between Maikop kurgan burials and contemporary South Caucasus peoples; the phylogeography of maternal and paternal lineages in the Caucasus and western Asia; revelations about Caucasus prehistory derived from ancient genomics; the putative connection between the spread of farming, Indo-European languages, and Y-chromosome lineages; the timing of the split between Caucasus and European hunter-gatherer groups; and questions as to the role of Caucasus hunter-gatherers in the peopling of continental Europe.
Prediction and classification are two very active areas in modern data analysis. In this paper, prediction with nonlinear optimal scaling transformations of the variables is reviewed, and extended to the use of multiple additive components, much in the spirit of statistical learning techniques that are currently popular, among other areas, in data mining. Also, a classification/clustering method is described that is particularly suitable for analyzing attribute-value data from systems biology (genomics, proteomics, and metabolomics), and which is able to detect groups of objects that have similar values on small subsets of the attributes.
Group A streptococcal or Streptococcus pyogenes infections have been increasing post-COVID-19 pandemic. We describe the epidemiology of S. pyogenes pharyngitis and invasive disease in Alberta, Canada 2018–2023. Positive pharyngitis specimens were identified from throat swabs collected from pharyngitis patients. Invasive S. pyogenes was defined as the isolation of S. pyogenes from a normally sterile site or severe skin infection. S. pyogenes isolates were emm typed. Pharyngitis and invasive disease displayed seasonal trends preceding the COVID-19 pandemic followed by a sharp decrease during COVID-19 intervention measures. After the lifting of interventions, rates of pharyngitis and invasive disease rose. There were 182 983 positive pharyngitis specimens between 2018 and 2023 for a positivity rate of 17.6%. The highest rates occurred in the 0–9 age group in 2023 (41.5%). Invasive disease increased in 2022–2023 driven by emm1 and 12 types. M1UK strain was the most frequent M1 type associated with invasive disease (59% of M1 isolates sequenced). Notably, out of 182 983 pharyngitis cases, there were 111 cases of invasive S. pyogenes detected for an invasive disease rate of 0.06%. This descriptive epidemiology of S. pyogenes pharyngitis and invasive S. pyogenes disease highlights the rapid increase in cases of S. pyogenes occurring in western Canada and illustrates the critical need for a vaccine.
Elevated levels of IL-6 in plasma are associated with the severity of visceral leishmaniasis (VL). The clinical manifestations of VL vary among patients, influenced by host factors and the virulence of the Leishmania infantum parasite. Considering that severe VL may result from an exaggerated inflammatory response, this study investigated whether IL-6 could serve as a biomarker to identify pro-inflammatory virulence factors. We conducted a genome-wide association study (GWAS) analysis on L. infantum isolates from patients with VL, whose IL-6 concentrations were measured. The analysis revealed that the relationship between IL-6 levels and clinical outcomes (survival vs mortality) had an area under the curve (AUC) of 0.67 (95% CI 0.52–0.81). A cut-off of 391.7 pg mL−1 for IL-6 was established to conduct a logistic regression analysis. We identified 10 029 single nucleotide variants (SNVs) across 62 genomes, resulting in 6,948 SNVs after filtering, of which 6,341 are located in protein-coding regions. The association analysis with PLINK identified 722 variants, of which 35 showed significant associations, with odds ratios ≥3.3, primarily in coding regions. These findings demonstrate that IL-6 levels tended to be associated with the fatal outcome of VL and highlight 35 novel genetic variants that could serve as potential biomarkers for prognosis. Further research into the biological role of these variants may lead to new therapeutic targets and improve the clinical management of VL, especially in identifying high-risk patients.
This guest editorial describes the importance of converging genetics and psychosocial epidemiology research methods to understand the biopsychosocial etiology of psychiatric phenotypes.