Roberta Kline MD

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What is Functional Genomics?

Functional Genomics focuses on integrating the many layers of our genetic and cellular biology that influence our health and how they interact with each other and the environment. These layers include: Genetics & Genomics (our DNA), Epigenetics, Gene Expression, and Metabolic Biochemistry.

Genes

Genetics and Genomics both focus on DNA, or deoxyribonucleic acid, which makes up the genes that contain our body’s operational blueprints. DNA gives our cells detailed instructions for everything from energy production in mitochondria to cellular health, food digestion and nutrient processing, thinking, walking and breathing, protecting us from viruses, how we age, and more. They are also the blueprint for epigenetics.

While humans are 99.9% alike in our DNA, the 0.1% difference makes us each unique. Much of that difference comes from millions of small changes in our DNA, the most common of which are SNPs.

These SNPs, or single nucleotide polymorphisms, can create minor changes in the genes that give our bodies instructions for how our biochemistries work, potentially predisposing us to disease or problems with medications.

Genomic Testing

Genomic testing helps us identify where these SNPs are located in our DNA and what functions they impact, giving us better tools for understanding our own health. Nutritional Genomics and Pharmacogenomics are the main testing options available clinically. As technology is advancing, Whole Genome Testing is now emerging as another viable option that evaluates the entire genome, or ALL of the DNA sequence and its alterations which may also include genetic mutations in addition to SNPs.

Epigenetics

Our genes may be microscopic, but they can respond to our environment in a big way! Some environmental conditions can be strong enough to influence the way our genes actually give instructions to our cells, and this is through a process called epigenetics.

Epigenetics literally means “above the genome”, and this science examines how the function of our genes can be altered without changing the DNA code itself. These epigenetic mechanisms are found in many different forms which control access to the genes in response to biological and environmental signals. Unlike our DNA code, which is fixed, these epigenetic processes are dynamic. This is how we adapt quickly to our current survival needs.

The most common type of epigenetic change, and the only one available clinically at this time, is DNA methylation.

Imagine if your DNA is like a complicated network of train tracks- epigenetic modifications are like “on” or “off” control levers added to the rails over time, halting movement or redirecting traffic in certain places. These are controlled by a central command center that modifies them in response to transportation volume and schedules.

In fact, these little epigenetic tags or “switches” can be passed down from generation to generation. Each of us inherits different control panels from our ancestors. These ancestral modifications, or epigenetic signatures, can reflect adaptations that helped our predecessors cope with environmental conditions, including trauma. So, even if your genes are “normal” and ready to work the railway, they may not be doing their job because their instructions have been overridden!

Gene Expression

The ultimate result of the interaction between our genes, epigenetics, and environment is called gene expression. Gene expression gives us a real-time assessment of how these different components are working together to impact our cellular and biological systems at any point in time.

We can measure gene expression in many different ways, and most of them involve testing various proteins and molecules involved in our metabolic processes.

Metabolic Biochemistry

In order to determine how well these lifestyle changes are working to meet our overall health goals, we can collect data on our metabolic biochemistry. By testing blood, urine, stool and saliva samples, we can observe any changes to our cells and mitochondria. Commonly known ones include cholesterol, glucose, homocysteine, blood count, potassium, nutrient levels etc. We can also measure the functioning of our cells and mitochondria, assessing oxidative stress and inflammation, hormonal levels and functioning, and many others.

The microbiome is also a dynamic measurement that impacts our cellular and metabolic health, and in turn is influenced by gene expression (our genes and those of the microbes in our gut) and how our biology is functioning.

Biological Age

Biological age is another way to assess the interactions between our genes, our lifestyle choice, and environmental exposures. This aspect of epigenetic testing can be a powerful tool when assessing how these interactions affect our cellular functioning, and how fast we are aging at the cellular level. Because it is dynamic, we can also use it to evaluate responses to treatments that are designed to address mitochondrial and cellular functioning.