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Nutrigenomics Defined

“Nutritional genomics or nutrigenomics is the application of high-throughput genomics tools in nutrition research. Applied wisely, it will promote an increased understanding of how nutrition influences metabolic pathways and how this regulation is disturbed in the early phase of a diet-related disease and to what extent individual genotypes contribute to such diseases.”

SOURCE: Nature Review Genetics, 4:241 (April 1, 2003).

screened for PKU, and those identified as having the disease-causing variant gene are able to live a normal life with dietary modification.

Nevertheless, Collins remarked, “The field of nutrition has not always come across to us hard-nosed scientists as being based on a very rigorous set of scientific findings. The evidence has not impressed us as being as solid as it might be.” The tools of genomics and related fields thus offer the promise of putting the field of nutrition on a firmer scientific footing, supported by both experimental evidence and theoretical understanding. Ultimately, genomics has the potential to dramatically expand comprehension of how nutrients affect the human body and to personalize nutrition, making possible individualized nutritional recommendations. Although nutrigenomics is still an emerging field, many scientists already believe that it will revolutionize the science of nutrition.

The Search for Nutrition-Related Genes

Nutrigenomics can be used in two different ways. The first way is to provide a better understanding of nutrition as it applies to the general population. The second way is to provide an understanding of nutrition at the level of the individual, exploring how nutrients affect people differently, depending on genetic variation.

The first step toward realizing that vision is finding the genetic variants involved in human disease, or what Collins termed “those ticking time bombs that are lurking within our genomes.” The problem is that until recently researchers have not had at their disposal efficient and cost-effective tools for finding the genetic variants that increase the risk of common diseases or identifying the environmental triggers, such as diet, that may set them off.

“We have done very well with Mendelian conditions (for example, PKU) and not so well with the genetic variants that contribute to things

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