A polymorphism is a variation in the DNA genetic code that occurs in a subset of individuals. Polymorphic variation conveys greater or less susceptibility toward specific diseases by improving or impairing physiological function. The most common type of polymorphism is known as a single nucleotide polymorphism (SNP) in which, as we have said, a single nucleotide in a gene is changed.
GenoSolutions Genomic tests assess genetic polymorphisms, deletions, and allelic variances- not expressive Mendelian traits. That is, the phenotypic expression (trait) of each SNP we test does not depend upon the dominant or recessive nature of the trait. Rather, the potential strength of expression of a SNP often depends upon whether it resides upon one chromosome (heterozygote positive) or both chromosomes (homozygote positive), as well as the environment to which it is exposed.
Polymorphism analysis may be critical for the complete understanding of complex human diseases since certain genotypes (forms of a gene) will be consistently associated with the development of particular diseases - both acute and chronic. Aberrant genes produce aberrant proteins and enzymes. By identifying the genetic aberrations, we may come to a more complete understanding of the molecular basis of diseases, from which novel therapeutics may arise.
To this end, it has become increasingly important to identify SNPs in individuals that confer greater risk or protection in developing chronic diseases. Those SNPs that are most important clinically are the SNPs that are relevant to the development of common chronic diseases, that are prevalent to a reasonably high degree in the general population, whose physiological effects are modifiable using diet, nutritional intervention, lifestyle changes and specific pharmacological intervention, and whose phenotypic expression is measurable by laboratory analysis. In other words, clinically important SNPs must be relevant, prevalent, modifiable, and measurable.
GenoSolutions Genomic tests are currently available for numerous chronic diseases, including cardiovascular disease, osteoporosis, detoxification impairments, and immunological defects associated with gut associated lymphoid tissue (GALT) and chronic inflammatory conditions. In each of these areas, functional laboratory testing also exists which allows the practitioner to assess the dynamic integrity and metabolic reserve of associated physiological systems. The combination of genomic SNP analysis and functional laboratory testing thus provides a novel, effective, and comprehensive method for assessing genetic risk, phenotype expression, and physiological function.