Welcome to GenoSolutions' guide to clinical Genomics, designed to bring current genetic research into a meaningful clinical context for practitioners, providing critical background information and defining key concepts.
Virtually all-human diseases result from the interaction of genetic susceptibility and modifiable environmental factors. These environmental factors include: infectious, chemical, physical, nutritional, and behavioral factors. Slight variations in genetic makeup called Single Nucleotide Polymorphisms (SNPs-pronounced "snips" or "polymorphisms" for short) are associated with almost all diseases.
Genetic variations themselves do not cause disease but rather influence a person's susceptibility to specific environmental factors that increase disease risk.
GenoSolutions through its partnering with Genova Diagnostics USA, offers a unique line of Predictive Genomic Diagnostic Profiles. Each profile focuses on a carefully selected set of polymorphisms associated with a particular disease or physiologic imbalance (e.g. cardiovascular, bone metabolism).
Though many polymorphisms can be related to a particular disease or function, not all are clinically useful. To assure clinical value, we assess only SNPS that meet four critical requirements:
- Relevancy: The activity of individual proteins and enzymes can be simultaneously coded by tens or hundreds of polymorphisms.
- Prevalency: Our selected polymorphgisms carry clinically significant population prevalence. These are relatively common genetic predispositions associated with extremely prevalent conditions.
- Modifiability: Our profiles focus on genetic variations whose expression is influenced by environmental factors. Each profile contains intervention options based on the patient's genomic pattern. Commentary provides specific risk reduction strategies, including dietary, nutritional, lifestyle, and pharmaceutical interventions.
- Measurability: For each polymorphism, our profiles provide recommendations for follow-up functional laboratory testing. These functional assessments evaluate and monitor phenotypic expression of genetic tendency, functional integrity, and metabolic reserve.
GenoSolutions profiles can be applied to three broad areas of clinical relevance:
- Genomic Testing for Challenging Cases- for chronic diseases that arise from multifactorial etiologies.
- Familial Association Testing- for identifying inherited risks within families.
- Predictive Genomic Testing- for more precise, proactive health risk screening.
