Nutrigenetics and Nutrigenomics: Discover How Your DNA Can Transform Your Diet and Your Health

Nutrigenetics and nutrigenomics have become central fields within precision medicine, reflecting advances in our understanding of the interaction between genetics and nutrition. 

In a context marked by the increase in metabolic and chronic diseases, these sciences offer new perspectives for understanding how genetic and molecular factors influence each individual’s response to nutrients, supporting more personalized preventive and therapeutic strategies (1). 

With the progress of genotyping technologies and omics approaches, it has become possible to integrate genetic, metabolic, and dietary data to develop individualized nutritional plans. 

The clinical application of nutrigenetics and nutrigenomics represents an important step in the transition from a generalized dietary model to precision nutrition, capable of optimizing health, metabolism, and the prevention of diet-related diseases (1). 

In this article, we will explore the foundations of nutrigenetics and nutrigenomics, their conceptual differences, and the role of these fields in the evolution of personalized nutritional practices. Let’s dive in! 

What Is Nutrigenetics?

Nutrigenetics is the field of science that studies how individual genetic variations influence the body’s response to nutrients and dietary components. The central concept is that genetic polymorphisms can modify the absorption, metabolism, and physiological effects of nutrients, resulting in different disease risks and varying responses to dietary interventions among individuals (1, 2). 

The origins of nutrigenetics are directly linked to advances in genetic knowledge, especially after the Human Genome Project and the identification of single nucleotide variants (SNVs), which made it possible to correlate genetic variants with specific metabolic responses to nutrients (1, 3). 

Historically, the classic application of nutrigenetics occurs in monogenic diseases such as phenylketonuria, in which dietary restriction is based on a specific genetic defect. However, as mentioned, its use has expanded into broader health contexts (4). 

Practical Applications in Genetic Testing

Practical applications of nutrigenetics in genetic testing involve the identification of individual genetic variants, mainly SNVs, through high-precision genotyping techniques. These variants can be analyzed in genes related to nutrient metabolism, such as folate metabolism, vitamin D transport, caffeine metabolism, lipid metabolism, and others (5–7). 

Based on the identification of these variants, it is possible to propose personalized nutritional recommendations, such as: 

• Adjustment of vitamin intake;
• Modification of caffeine consumption (e.g., CYP1A2 slow metabolizers);
• Guidance on fat intake and cardiovascular risk (e.g., carriers of APOE4). 

In addition, variants in genes that affect vitamin D metabolism (such as GC) may indicate the need for increased monitoring or supplementation (5, 7). 

What Is Nutrigenomics?

Nutrigenomics is the field of science that studies how nutrients and dietary components influence gene expression, including epigenetic, transcriptomic, proteomic, and metabolomic mechanisms. The goal is to understand how diet can modulate gene activity, influencing physiological processes, the prevention and development of chronic diseases, and enabling more precise nutritional interventions (1). 

It is now known that diet regulates gene expression through mechanisms involving epigenetic modulation (such as DNA methylation and histone modifications), activation of transcription factors via intracellular signaling cascades, and direct interaction of nutrients with nuclear receptors. 

Bioactive dietary components—such as polyphenols, fatty acids, vitamins, and amino acids—can alter chromatin structure, influence the activity of non-coding RNAs, and activate or inhibit specific genes related to metabolism, inflammation, oxidative stress response, and DNA repair (8–10). 

What Are the Benefits of Nutritional Genomics?

Because diet can regulate gene expression, nutrients and bioactive compounds can influence metabolic, inflammatory, and cellular repair pathways, directly impacting the prevention and management of chronic diseases such as type 2 diabetes, obesity, cardiovascular diseases, and cancer (11, 12). 

Nutritional genomics allows for personalized dietary interventions by adjusting recommendations according to an individual’s genetic and epigenetic profile, which can increase the effectiveness of disease prevention and response to treatment (13). In addition, diet-induced epigenetic changes may be reversible and have transgenerational effects, contributing to reduced disease risks in future generations (11, 12). 

Another benefit is the identification of nutritional and genetic biomarkers that guide precision nutrition strategies, promoting optimal health and healthy aging (12). 

Finally, nutritional genomics offers potential for reducing the cost and toxicity of treatments by directing dietary interventions to normalize the expression of genes associated with pathological processes, particularly those linked to oxidative stress and inflammation (14). 

What Is the Difference Between Nutrigenetics and Nutrigenomics?

The main difference between nutrigenetics and nutrigenomics lies in their investigative focus. 

While nutrigenomics analyzes the effect of nutrients on gene expression and its biological consequences, nutrigenetics studies how individual genetic variations (e.g., polymorphisms) determine how the body responds to nutrients and specific diets. 

In summary, nutrigenomics focuses on the impact of diet on the genome, whereas nutrigenetics focuses on how the genome influences the response to diet (1). 

Both fields are complementary and fundamental to the development of personalized nutrition. See the table below for the key differences between the two areas regarding their objectives, clinical applications, and tools. 

Table: Differences Between Nutrigenetics and Nutrigenomics

How Do These Sciences Impact Personalized Nutrition?

Nutrigenetics and nutrigenomics contribute to personalized nutrition by deepening the understanding of how individual biological characteristics shape the relationship between diet and health. Together, these approaches allow for dietary recommendations tailored to each person’s genetic and molecular profile, supporting strategies for preventing chronic diseases, improving performance, and promoting lifelong health (12, 15). 

In clinical practice, nutritionists use genotyping panels that assess variants in genes such as: 

• MTHFR (folate metabolism);
• APOE (cardiovascular risk);
• FTO (obesity);
• CYP1A2 (caffeine metabolism);
• ACE (sodium response).

These analyses help guide personalized interventions, such as adjusting micronutrients, moderating caffeine intake, or recommending specific dietary patterns (12, 15). Potential benefits include: 

• Greater adherence to dietary changes;
• Reduction of cardiometabolic risk factors;
• Improved dietary composition;
• Possible improvements in quality of life and physical performance. 

Evidence suggests that interventions based on nutrigenetic testing can reduce fat and sodium intake and promote positive behavioral changes (11). 

The Relationship Between Epigenetics, Nutrigenetics, and Nutrigenomics

Epigenetics describes mechanisms that regulate gene expression without altering DNA sequence, responding to environmental stimuli such as diet. Epigenetic modifications—such as DNA methylation and histone alterations—are sensitive to nutritional status, are potentially reversible, and can influence phenotype throughout life and, in some cases, across generations (9, 16). 

In this context, many nutrigenomic effects are mediated by epigenetic mechanisms, which translate nutritional signals into specific gene expression profiles (11, 17). The integration of these fields shows that epigenetics connects the genetic predisposition characterized by nutrigenetics with the environmental modulation studied in nutrigenomics. 

This framework enables the design of personalized dietary interventions aimed at preventing and managing chronic diseases, considering both an individual’s genetic profile and their epigenetic marks (11, 16). 

In personalized nutrition, epigenetics acts as a “recorder” of environmental exposures—including dietary patterns—transforming these influences into functional genomic changes. This process helps explain part of the interindividual variability in nutritional response and disease risk (9). 

Diet-induced epigenetic modifications represent targets for preventive and therapeutic strategies, with the potential to modulate risks associated with lifestyle. Understanding this “bridge” between genes and environment supports more precise approaches in personalized nutrition, guided by a combination of genetic, epigenetic, and dietary data (9). 

Why Is It Worth Considering These Approaches in Clinical Practice?

Integrating nutrigenetics, nutrigenomics, and epigenetics into clinical practice strengthens the ability to understand the molecular determinants of nutrient response, enabling more precise interventions for individuals with different metabolic profiles. 

Combined analysis of these fields allows for the characterization of nutritional susceptibilities, modulation of biological pathways associated with disease risk, and guidance of interventions based on measurable mechanisms. 

These approaches expand the scope of nutritional assessment by incorporating genetic and epigenetic data that influence nutrient utilization, gene regulation, and metabolic response. This supports the development of more targeted therapeutic strategies with greater potential to impact clinical outcomes related to metabolic, cardiovascular, and inflammatory disorders. 

Additionally, the use of genetic and epigenetic biomarkers contributes to more effective nutritional interventions and more accurate monitoring of treatment response. These tools make personalized nutrition a robust component of precision medicine, offering objective support for clinical decisions and improving the management of risks associated with diet and lifestyle. 

How to Take a Nutrigenetic Test

Taking a nutrigenetic test is simple: it requires collecting a biological sample, usually saliva or blood, which is then used to identify variants associated with an individual’s response to dietary components. From these data, healthcare professionals can assess patterns of absorption, metabolism, and food sensitivity, supporting more precise clinical decisions. 

After collection, the sample is processed in a laboratory using genotyping technologies capable of analyzing multiple variants simultaneously. The results are interpreted by a qualified professional, who integrates the genetic information with the patient’s clinical history and dietary habits. 

For those looking to incorporate nutrigenetics into clinical practice, specialized panels offer a comprehensive evaluation of variants related to metabolism, micronutrients, body composition, and responses to different dietary patterns. 

Among these options, SYNLAB offers the NutriHealth test, an advanced panel of variants that can support the development of personalized nutritional interventions. 

Get to Know SYNLAB – A Leader in Medical Diagnostic Services!

Accurate and up-to-date testing is essential for precise diagnoses and better treatment guidance. SYNLAB is here to help. 

We offer diagnostic solutions with rigorous quality control to the companies, patients, and healthcare providers we serve. Present in Brazil for over 10 years, we operate in 36 countries across three continents and are leaders in diagnostic services in Europe. 

Contact the SYNLAB team to learn about our available tests. 

Frequently Asked Questions (FAQ)

What is the difference between nutrigenetics and nutrigenomics?

Nutrigenetics evaluates how genetic variants influence the response to nutrients; nutrigenomics studies how diet modulates gene expression. 

What is nutrigenetics?

It is the field that investigates how genetic polymorphisms affect absorption, metabolism, and individual responses to nutrients. 

What is nutrigenomics?

It is the study of how nutrients influence gene expression and the biological processes regulated by diet. 

What does nutritional genomics mean?

A set of approaches that integrates nutrigenetics, nutrigenomics, and epigenetics to guide personalized nutritional interventions. 

What is a nutrigeneticist?

A professional trained to interpret genetic variants related to nutrition and apply this information to individualized recommendations. 

What is the role of epigenetics in nutrition?

Epigenetics translates dietary exposures into changes in gene expression, influencing metabolic risk and responses to nutritional interventions. 

References 

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