Genetic Testing: A Remarkably Useful Tool

Intro

There is much buzz these days about genetic testing and its’ promise to provide answers for the many complex and chronic illnesses that are often difficult to diagnose and tend to respond poorly to care.

Genetic testing can be profoundly useful as a clinical tool, given certain caveats. These tests do give us detailed information about our genetic makeup, including variants in a gene (single nucleotide polymorphisms – SNPs). The outcome of SNPs can be detrimental or beneficial.

Genotype - Your genetic inheritance

The sum of an individuals’ genetic makeup is their genotype. A given gene translates to an enzyme that controls a given body function. For instance, BCO1 is a gene encoding the enzyme that converts beta-carotene from vegetables into the essential nutrient vitamin A.

Phenotype - Your genetic expression

How the genotype is expressed in a person is their phenotype.

As an example of this, people who have variants – SNPs – in the BCO1 gene will tend to have a chronic deficiency of vitamin A unless they eat a lot of foods that are direct sources of the vitamin from animal fats. The deficiency itself could result in night blindness and other eye disorders, skin, hair, and nail conditions, impaired resistance to infections, hormonal deficiencies that include the thyroid, increased risk for birth defects, and an increased tendency to sinus, lung, and intestinal disorders. It is common for the underlying vitamin A deficiency to be unrecognized and the various conditions associated with it to be treated independently and often with drugs.

Epigenetics - Drivers of genetic expression

All of the external modifiers – environment, stress, diet – that influence the genotype and determine the resultant phenotype are the epigenetic factors/variables. Clinical nutrition, for instance, can be used as an epigenetic variable to modify the phenotype.

An example here is the ALDH gene-enzyme which breaks down aldehydes. It is very common for people to have SNPs that limit this enzyme and the result is reacting to aldehyde exposure. Aldehyde sensitivity will show up as headaches, foggy-headedness, severe fatigue, and muscle aching when exposed to aldehydes from colognes, perfumes, air fresheners, formaldehyde in carpets, furniture, and drapes. Symptoms are also be triggered by fermented foods and drinks (wine, pickles, vinegar) and by mold.

For people with low ALDH because of their genetic predisposition, supplementing the essential trace mineral molybdenum which promotes the enzyme can be life-changing!

Reading the results of genetic testing 

Caveat emptor! (buyer beware) Most services that interpret the results of genetic testing are misleading and superficialm and while implementing the results of genetic testing can be life changing, it's important to understand that genetic testing isn't like math where particular genetic variants always result in specific health outcomes - there are a lot of variables and useful interpretation requires a training and experience. Consult with a doctor/nurse/counselor certified in the Opus23 database – it is the most sophisticated database for genetic curation and  contextualizes the effects of genes on one another as well as the effects of individual genes.