Understanding Genomics – The Importance of Knowing Your Genetic SNPs

Understanding Genomics – The importance of knowing your SNPs

Genomics includes the scientific study of genetics SNPs and the complex diseases such as heart disease, autoimmune disease, asthma, diabetes, and cancer because these diseases are typically caused more by a combination of genetic and environmental factors than by individual genes. Single Nucleotide Polymorphisms (SNPs) are common genetic variations that explain many of the differences among individuals. Knowing which SNPs you carry enables your practitioner to more effectively support you and your individual health needs. While over 10 million SNPs are known, only a few have clinical significance so working with a practitioner who can help support you and your most important/relevant SNPs to your case is essential. SNPs help predict an individual’s response to certain drugs, susceptibility to environmental factors such as toxins, and risk of developing diseases. SNPs can also be used to track the inheritance of disease-associated genetic variants within families. Understanding the potential contribution of your genomic data to your phenotypic expression can be of profound importance to the management of your health and symptoms. Nutrigenomics is a branch of science that uses cutting-edge genomics technology to study the link between our genes, nutrition, and health. This information allows us to develop personalized strategies for optimal health.

The presence of a particular single nucleotide polymorphism (SNP) can:

  1. Help your practitioner predict which of the nutritional supports they put in place might be needed in higher doses, or might need to be there for the long term. Seeing this information also helps your capacity to participate, by helping you connect the dots. A lot of times you may be taking supplements and not feeling the effects. If this is the case, you may not be taking ahigh enough dosage for your particular deficiencies/genetics.
  2. Help guide your lab testing, to evaluate the extent to which a particular SNP is or is not expressed phenotypically.
  3. Provide your practitioner with a list of lab targets to retest, which might be needed at a time when you are undergoing severe stress or have another significant change in biology, to evaluate whether there are changes in gene expression that result from changes in your biochemistry.
  4. Help your practitioner and you (the patient/client) understand your risk profile in a way that can help guide the focus of dietary, nutritional, lifestyle, and surveillance choices within the overall management of your case.

I always encourage everyone to get genetic testing done and a few of the points I share with my clients when discussing the importance of getting genomic data are:

  1. From a therapeutic point of view, the goals of intervention are 1) to support poorly functioning biological processes identified in the genomic information and (when possible) corresponding lab work, and 2) to change the clients biology in a way that impacts gene expression. I tell my clients, “Your genes are like a piano keyboard. You might have a couple of keys that are out of tune. That’s ok. Your body chemistry is like the song you play on the piano. We want to choose a song that doesn’t play those keys. Change your chemistry, change your gene expression.”
  2. There’s no other way to get this information then to do genetic testing, and it’s a crucial layer of insight that helps your practitioner understand your case better.
  3. The raw data from these reports errs on the side of including everything that can be reported. You end up with a very long list of data, but the genes are not all equally well researched. So, working with a practitioner that uses the filtering mechanism of the Pure Genomics report can help to target the most important SNPs. The PG report only reports out the genes that have robust research to support what biological processes the genes are actually associated with. You don’t want to pivot your care based on a gene that has one rat study to support what that gene is purported to do. You’d rather only use the data about genes that are well studied. Most reports don’t do this narrowing down for you. Pure Genomics Nutrigenomics reporting is fantastic for this. PureGenomics® (the software I use with my clients) identifies SNPs that are relevant to health, well-researched, and responsive to nutritional support.  By providing concise reports with supplement recommendations, PureGenomics® allows your practitioner to provide specialized nutritional support based on your genetic makeup. PureGenomics harnesses the science of nutrigenomics to empower individuals to uncover the relationship between their genes, nutrition, and wellness.
  4. I always tell my clients, “Just because you have the gene for something, doesn’t mean you have the something.” It’s common, for example, to see a person with a gene defect related to beta carotene monooxygenase 1 (BCMO1) an enzyme involved in conversion of beta carotene to vitamin A. If you see this SNP and have your vitamin A levels tested and see that they are in the top range, then you are not vitamin A deficient. So essentially you have a gene defect that would suggest the POSSABILITY of vitamin A deficiency however no vitamin A deficiency was detected. So again, just because you have the SNP doesn’t mean you will have the imbalance that comes from it. Labwork/blood tests can confirm.

Once your practitioner has your genomic data, when it’s possible, they may want to follow up the genomic findings with lab testing to confirm what is out of balance. When it’s not possible to do so, we integrate the genomic information into the overall picture of the case. When possible, if we choose to support a particular biological function in part because of genomic evidence suggesting the need for support, we plan for follow up observations to assess whether or not that clinical intervention led to an improvement that would support the view that the SNP involved needed support.

Leave a Reply

Your email address will not be published. Required fields are marked *