The Hero’s Genome Continues

When we say that we are embarking upon your Hero’s Genomic Journey, what are we doing anyway?

It is important to know what Genomic medicine, and genomic testing is all about, and what it is not.

The most common question that I get is “Hey Doc, what is Genomics anyway?”  So let’s answer that question.

Strictly speaking Genomics is the study of the entirety of the an organism’s genes, while Genetics is the study of heredity or how the characteristics of the person are transmitted from one generation to another by means of the DNA. Mind you, this is not limited to humans, but this occurs in every living thing.

Where things get a bit confusing is that the terms genetics and genomics are frequently incorrectly used interchangeably.

GENETICS

  • Is the study of how the characteristics of living organisms are transmitted from generation to generation, the study of the genes role in inheritance.
  • Involves the study of specific and limited numbers of genes or parts of genes that have a known function, and how these traits are then passed to the next generation.
  • Example: Blue eyes or Green eyes, or the BRACA gene and breast cancer, or cystic fibrosis.

GENOMICS

  • The study of the entirety of an organism’s genes and how those genes interact with each other and with the environment in which they exist.
  • High performance computing and math techniques (bioinformatics) are used to analyze a significant amount of DNA-sequence data to find variations that effect health, disease or drug response.
  • Example: MTHFR variant and how our bodies handle B vitamins and detoxification.

In humans this means that when we are looking at the Genome, we are searching through about 3 billion units of DNA across 23,000  different genes. 

 

Another very important aspect is that we call the changes in the genome a variant.  It also has been called by the term of a “single nucleotide polymorphism” or SNP (pronounced Snip).  My patients have even heard me call it a “snp-er-doodle” just for fun.

 

So knowing what to study is very important.  Defining a gene versus a genomic tendency is vital. But how do we chose our areas of study of the Genome?  We chose our genomic testing based upon the following qualities:

  1. What is the function of the SNP or variant with in the body and its relationship to health, disease and the environment?
  2. Is the SNP modifiable, can we turn on or off the SNP or variant?
  3. Is the SNP or variant prevalent in humans, it is common?
  4. Is there a biomarker, or metabolite that we can measure as a next step? This is done by urine, blood, saliva, stool testing.

We take a comprehensive approach to genomic testing.  Always considering your history, exam and environment in which you live and work, this includes emotions and a mind-body approach as well.

So fellow Heroes, if this information has peaked your curiosity and interest, it is time to get your Genome evaluated. Call today for your test and next steps in your journey to be the hero of your own health.

Be Well~

Dr. Louder