Health Focused Genetic Testing

Traditional genetic testing examines specific individual genes’ role in inheritance. 

You have most likely heard of traditional genetic testing and the rare, dreaded diseases associated with a genetic defect. These rare gene variants or high penetrance genetic variants allow doctors to diagnose and screen for inherited genetic disorders.  Think of conditions such as Sickle Cell Anemia, Tay Sachs Disease, Huntington’s Disease or Down Syndrome.  These diseases are all inherited mutations where parts of genes are rearranged, or chromosomes are duplicated or missing.  Presently, modern medicine can’t change the outcome of these genetic mutations.   Fortunately, they are rare and affect less than 1 % of the population.

Different than traditional genetic testing, health focused genetic testing or genomic testing looks a very small changes (low penetrance) in the DNA. 

We call these SNPs (Single Nucleotide Polymorphisms) or gene variants.  They are very common, and we all have a lot of them.  Since the human genome was mapped back in 2003, Scientist have been researching gene SNPs to find out what diseases and conditions are associated with (NOT caused by) certain gene variants.  Fortunately, the impact of a genomic SNP/variant does not directly cause disease like a genetic mutation does. 

A genomic SNP (used in my health focused genetic testing) is the equivalent of a small spelling error in the instructions on how to make a protein, it may slow a gene down or speed it up or have no effect at all.  That protein may be a hormone (ie. thyroid hormone), enzyme (ie. digestive), an immunoglobulin (ie. your defense/immune system) or any one of the many biochemical miracles happening in your body every second of every day. Most of the time, our bodies take this typo (SNP) in stride and carry on, but sometimes a SNP can cause an alteration to a person’s biochemistry and metabolism which over time can result in the development of a chronic disease.

For instance, you may be frustrated because you keep eating (a lot) after everyone else has finished.  You may scold yourself for not being able to control your appetite.  Believe it or not, you could have gene SNPs at play.  If fact, there are genetic variants that don’t turn off the genes that stimulate your appetite meaning its turned up and working overtime. 

You may wonder (and worry) if you are destined to get the chronic diseases that run in your family.  Health focused genetic testing can tell you if you are predisposed to those family diseases and, best of all, what you can do to minimize your risk.

 Curious? See a sample report here.