“ Your genome sequence can become a vital part of your medical record, thereby providing critical information about how to optimize your health”
– Leroy Hood MD, PhD
We have all heard talk of our genome. What is that? It is defined by the National Library of Medicine as
“…our complete set of DNA and all of its genes. Each genome contains all the information to build and maintain our organism. The human genome contains more than 3 billion DNA base pairs, contained in our chromosomes” …23 pairs of chromosomes, of which we get one pair from Mom and one pair from Dad, for a total of 46 chromosomes. These are found in every cell in our body that has a nucleus.
The study of these genes is called Genomics and was made possible by the discovery of the DNA structure by James D Watson and Francis H C Crick on February 28, 1953 at Cambridge University and by the Human Genome Project which in 2003 was successful in mapping the entire genome of the human species. Genomic Medicine is an emerging medical study devoted to using this information for better diagnosis of conditions and diseases to be able to better personalize therapy.
How is this practical for us? There are various areas of development of this study that are maturing as this note is written.
The most common to the lay public is in the form of testing that is available direct to consumer, the most prevalent one being 23andMe which includes both ancestry and health information. The pertinent aspects are for your health, and focused on advising if you are at risk for a number of conditions and diseases, as well as noting simple traits. This information is interesting to the lay public but is best reviewed with your health professional to put the results into specific context as how it relates to the patient’s personal health status.
Tumor DNA sequencing is an important aspect of cancer care. It can give more in depth information regarding a certain cancer that would aid the patient and physician with targeted therapies for hoped for better results. More information can be found at https://www.cancer.gov/about-cancer/treatment/types/precision-medicine/tumor-dna-sequencing
Pharmacogenomics, initially utilized in the 1950s, has become more refined and it enables physicians to use specific information of a patient’s genetics regarding how our body absorbs, distributes, metabolizes and excretes medicine we take (pharmacokinetics). Medications pass through the liver and we each have different genes for the substances we are born with to metabolize them (ex. cytochrome P450 enzymes). This testing can show us what we are able to better metabolize and what we may not metabolize, creating the inherent risks of either no effect or a toxic effect of a substance.
Some of the current available tests are in their early stages of use to the public and may be incomplete in their results. A solution to that may be in combinatorial pharmacogenomics that utilize a series of genes from the individual to better analyze their personalized metabolic pathways. These tests are currently available for psychotropic medications as antianxiety, antidepressant and pain medications.
On the horizon and currently being studied and perfected is Nutrigenomics, the study of how our personal genetics influence what we eat, and how what we eat affects our genes and metabolism.
Our internal genetic makeup can predispose us to certain diseases and can be affected by diet and lifestyle. Just because one has a predisposition does not mean they will automatically express it. Nutrients, and or the lack of them, can influence our susceptibility to disease.
A recent editorial in the American Journal of Medicine https://www.amjmed.com/article/S0002-9343(18)30748-4/fulltext reiterates data we have been aware for near 50 years and the numerous studies extolling the successes of a healthy lifestyle. Despite this, the message has become fragmented and over disputed in its efficacy. The facts remain however, that attention to good health habits such as not smoking, getting some regular physical activity, not overdoing it with alcohol intake and attention to good nutrition are, no doubt, fundamental in stemming the tide of metabolic syndrome that predisposes people to their genetic susceptibility to disease, as discussed above.
Changes in our lifestyle are not impossible to attain and are probably some of the easiest to attain. You should speak with me on how your current uses could be gently modified for feeling better.
As part of your membership I offer Nutritional, Lifestyle & Genomic Consulting. Some of you have already benefited from this care. Remember to follow up to assure lifelong changes for the better, and share this with someone you care about.