Open research questions in Nutrition, Genetics, and Disease

What the literature leaves open

• The need for new tools to prevent diet-related diseases in individuals who do not seek or require personalised dietary advice. The lack of effective interventions for improving diet quality and reducing cardiometabolic risk factors.

  From Self-Monitoring to Better Health: Changes in Diet Quality, Body Composition and Cardiometabolic Markers Following Use of the Dietary Diary App in a Single-Arm Study · 2026 · DOI

• It also highlights the challenge of inconsistent regulatory enforcement and limited quality control. Additionally, the paper notes the need for more research on the potential of nutritional gels and hydrogel-based delivery systems to improve supplement delivery, particularly in high-demand settings.

  Dietary Supplements in Public Health: Benefits, Risks, and Emerging Gel/Hydrogel Delivery Systems · 2026 · DOI

• Yet, individual responses to exogenous nucleotide (NTs) supplementation remain poorly understood.

  Urate‐Related Genetic Risk Modulates the Anti‐Aging Effects of Exogenous Nucleotides: Multi‐Omics Evidence From Older Adults · 2026 · DOI

• Future studies incorporating longitudinal designs, larger sample sizes, and multi-omic data are warranted to further elucidate CRC risk determinants and to inform personalized risk assessment strategies.

  Integrating polygenic and machine learning–derived nutrient risk scores for colorectal cancer risk stratification: Evidence from Korean adults · 2026 · DOI

• There is good evidence that PN interventions can improve eating behavior with potential to improve health but much remains to be done to make PN interventions more effective, to reduce the burden on participants, and to enable cost-effective and equitable scale-up before they can make a significant contribution to better public health.

  Harnessing Personalized Nutrition and Clinical Chemistry: Opportunities to Improve Public Health · 2025 · DOI

• However, how to personalize diet, and to whom, to reduce T2D risk remains unclear.

  Metabolomic Data May Support the Development of Personalized Nutrition Approaches to Type 2 Diabetes Management · 2025 · DOI

• Although dietary intake is a key modifiable risk factor in the development of chronic kidney disease (CKD), the optimal consumption levels to prevent CKD and the intake levels that pose the least risk remain unclear.

  Mendelian randomization study of micronutrients and development of CKD in a Korean population · 2025 · DOI

• Genetic risk variants for obesity and metabolic syndrome (MetS) have been identified, but their link to relevant metabolic health parameters warrants further attention.

  The interplay of genetics and fatty acid metabolism: exploring their impact on metabolic syndrome in Swedish men · 2025 · DOI

• Despite advances in discovering genetic risk variants in the last decade, most of the genetic risk is still unknown, and little is known about the genetic architecture across the heterogeneous phenotypic spectrum, both in the common and rare variant space.

  GENETIC DISSECTION OF A DIVERSE PHENOTYPE IN DIVERSE ANCESTRIES · 2024 · DOI

• Undeniably, however, unknown (or ignored) genetic variation among and within strains/lines can also be a significant source of data variability in published physiological measurements, though surprisingly this has not been extensively investigated as a specific source of physiological variation.

  Lack of Genetic Variation in Low Heterozygosity and Clonal Animals Creates Lack of Physiological Variation · 2024 · DOI

• The field of precision medicine for prediabetes is likely to remain dynamic. Future research should focus on individualized intervention strategies supported by multi-omics technologies, continuous glucose monitoring, and artificial intelligence.

  Decoding precision medicine in prediabetes: a citespace-based bibliometric analysis of current trends and future directions · 2026 · DOI

• The need for a comprehensive understanding of the effects of micronutrients and bio-active metabolites on reproductive health. The challenge of developing effective methodologies for the targeted use of these nutrients.

  Repro-Nutriciology: A Clinical Sub-Discipline for Epigenetic and Molecular Optimization of Reproductive Potential · 2026 · DOI

• The need for further research on the applications and importance of Nutrigenomics. The lack of understanding of the synergistic effects of the combination between the nutraceutical diallyl disulfide and the chemotherapeutic agent 5-fluorouracil in human colorectal cancer cells. The need for investigation of the potential of agro-industrial by-products.

  Advances in the Gene–Diet Interactions and Human Health · 2026 · DOI

• There is a need to develop more effective methods for identifying individuals at risk of metabolic complications. The study highlights the challenge of translating biomarker research into clinical practice, particularly in the context of precision nutrition approaches.

  Physiological Regulation of Nutritional and Metabolic Biomarkers in Obesity: Implications for Precision Nutrition · 2026 · DOI

• Precision nutrition offers a plausible route to addressing interindividual variability in dietary response, but has not yet been tested against clinical cardiovascular endpoints.

  Diet, Obesity and Cardiovascular Health: Molecular Mechanisms, Clinical Evidence and Future Perspectives · 2026 · DOI

• The anticipated heterogeneity in study designs, populations, interventions, and outcome measures limited the ability to perform a quantitative meta-analysis.

  Precision Nutraceuticals and Biomarkers of Healthy Aging: A Scoping Review of Human Studies on Nutrigenomic-Based Interventions · 2026 · DOI

• However, the extent of rare coding variation's influence at the population level remains inadequately understood.

  61. DISCOVERY OF NOVEL GENES ASSOCIATED WITH SLEEP AND CIRCADIAN RHYTHM PHENOTYPES AND DISORDERS VIA WHOLE-EXOME SEQUENCING · 2024 · DOI

• The boundaries between conventional prevention studies and precision approaches remain fluid.

  Decoding precision medicine in prediabetes: a citespace-based bibliometric analysis of current trends and future directions · 2026 · DOI

• Small sample size, - Limited to adult participants aged 18-69 years, - Study duration was only 10 weeks and one…

  From Self-Monitoring to Better Health: Changes in Diet Quality, Body Composition and Cardiometabolic Markers Following Use of the Dietary Diary App in a Single-Arm Study · 2026 · DOI

• Limited clinical validation, - Potential drug interactions, - Inconsistencies between label claims and the actual contents of products, - Presence of harmful or unlisted ingredients, - Less stringent oversight compared…

  Dietary Supplements in Public Health: Benefits, Risks, and Emerging Gel/Hydrogel Delivery Systems · 2026 · DOI

• Future research should focus on evaluating the efficacy of nutrigenomic-guided nutraceutical interventions, - Studies should aim to identify knowledge gaps and guide future research on precision nutraceutical interventions for healthy aging…

  Precision Nutraceuticals and Biomarkers of Healthy Aging: A Scoping Review of Human Studies on Nutrigenomic-Based Interventions · 2026 · DOI

• Current evidence does not support AI-enabled personalised nutrition as an established intervention for preventing childhood obesity, - Existing studies largely concern prediction, technical performance or feasibility, with limited external validation, - Rapidly changing platforms require continued validation after…

  Childhood obesity in changing food systems: mediterranean diet, socioeconomic inequalities and AI-driven personalized nutrition — the case of Italy · 2026 · DOI

• Research should test whether AI adds value beyond established nutritional assessment, professional support and public health programmes, - Studies should use representative samples, meaningful outcomes, independent validation and sufficient follow-up, - Equity should be treated as a primary outcome, with transparent subgroup reporting and co-design involving children, families and underserved…

  Childhood obesity in changing food systems: mediterranean diet, socioeconomic inequalities and AI-driven personalized nutrition — the case of Italy · 2026 · DOI

• HOMA-IR lacks universally validated cut-off values, - ALT and AST lack sensitivity and specificity for early-stage disease, - The need for complementary biomarkers to disease…

  Physiological Regulation of Nutritional and Metabolic Biomarkers in Obesity: Implications for Precision Nutrition · 2026 · DOI

• No formal quality assessment or meta-analysis was performed due to the narrative nature of the review, - The heterogeneity of study designs and the broad scope of the topic limited the analysis, - Articles not published in English and studies lacking sufficient methodological or outcome-related information…

  Selected Nutraceuticals in Metabolic Syndrome: Molecular Mechanisms and Clinical Implications · 2026 · DOI

Most-cited papers in Nutrition, Genetics, and Disease

• Revisting wilson and Jungner in the genomic age: a review of screening criteria over the past 40 years · Bulletin of the World Health Organization · 2008 · 745 citations
• Chemical Development in utero · Archives of Disease in Childhood · 1951 · 544 citations
• The Changing Concept of Epigenetics · Annals of the New York Academy of Sciences · 2002 · 390 citations
• From Epigenesis to Epigenetics · Annals of the New York Academy of Sciences · 2002 · 252 citations
• Epigenetics: Embedded bodies and the molecularisation of biography and milieu · BioSocieties · 2011 · 223 citations
• The implications of environmental epigenetics · Progress in Human Geography · 2012 · 205 citations
• Personalized Nutrition: Tailoring Dietary Recommendations through Genetic Insights · Nutrients · 2024 · 176 citations
• Epigenetic life: biological plasticity, abnormality, and new configurations of race and reproduction · Cultural Geographies · 2014 · 148 citations
• A Modernized Family Life Cycle · Journal of Consumer Research · 1979 · 139 citations
• Rips, FADS, and Little Loggerheads · BioScience · 1986 · 128 citations

Most recent work

• Physiological Regulation of Nutritional and Metabolic Biomarkers in Obesity: Implications for Precision Nutrition · Nutrients · 2026
• Functional foods and dietary matrices for metabolic improvement: an integrative review of mechanisms, evidence, and future directions · Journal of Functional Foods · 2026
• Mitigation of Metabolic Diseases Through Personalized Nutrition: A Critical In‐Depth Review · Food Science & Nutrition · 2026
• Vitamin B2 and B3 nutrigenomics reveals a therapy for NAXD disease · Cell · 2026
• Politics trump science in new US dietary guidelines · BMJ · 2026
• Selected Nutraceuticals in Metabolic Syndrome: Molecular Mechanisms and Clinical Implications · Biomedicines · 2026
• Multiomics: the intersection of personalized nutrition in cardiometabolic diseases · Journal of Translational Medicine · 2026
• NutriCHAT: A Reasoning-Driven large language model agent with Expert-Designed tools for Knowledge-Grounded poultry nutrition Assistance · Computers and Electronics in Agriculture · 2026
• Chrono-nutrition in precision nutrition: Integrating chronotype into personalized dietary interventions · Journal of Advanced Research · 2026
• The application and development of artificial intelligence in functional food research · Trends in Food Science & Technology · 2026

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