Introduction to Genomics
A genome is a complete set of genetic instructions. With 20,000–25,000 genes that contain over 3 billion base pairs of DNA, our genome provides the blueprint for everything that happens in our bodies.
Genomics identifies and analyzes variations in the DNA called single nucleotide polymorphisms (SNPs, pronounced “snips”). Over time, a small change can have a great impact on our biochemistry and our health. A SNP may have no effect at all, or it can modify the proteins created by a gene, making them more or less effective.
Over 150 SNPs have been identified as having a direct impact on health. Identifying and analyzing genetic variations provides clinicians with more information than ever before, enabling personalized interventions that are specifically tailored to a patient’s unique biochemical needs.
Genes provide the instructions for making proteins, hormones, immunoglobulins, and enzymes that control the transport nutrients and waste, and the essential communications that keep complex systems synchronized.
How do variations occur? Every time a cell replicates itself to replace dying cells in an organ or tissue, or when a new protein needs to be produced, portions of the chromosome open to expose the needed genetic information. During this process, malfunctions can lead to errors or variations in newly created proteins. Typically, our own system detects and repairs DNA errors before they get translated into a protein, but sometimes they become a permanent part of the DNA, leading to alterations in a person’s biochemistry and metabolism. This can result in a chronic disease, including cancer.
Genomic testing shines a light on a person’s genetic blueprint, providing the scientific data and analytical information needed to develop a precise, individualized approach to:
- Support the health of our natural defense system
- Intervene with predispositions to certain diseases
- Inform prescription and dosage of drugs
- Boost the healing process
- Maximize longevity and athletic performance
- Improve health and well-being
Genomics differs from genetics. Genetics refers to the traits or characteristics a person inherits from their parents. A common misunderstanding before the 2003 completion of The Human Genome Project, was that genes were considered to be fixed—health was believed to be anchored solely in the DNA inherited from your mother and father.
In fact, genes change. They adapt to environmental conditions, a characteristic referred to as genomic plasticity. These findings opened the door to the foundation of Nutrigenetics and Nutrigenomics, the study of the interaction of nutrition and genes, especially regarding the prevention or treatment of disease. This area of functional genomics is gaining increased attention and importance within the health care process.
Learn more about using genomics in your practice in our Genomic Medicine Certification Program.