Mapping all or some of your genetics can tell you many things about your body’s operating “software”. Some of this information is fairly worthless while other aspects may prove to be of critical, life or death importance. If you have a chronic illness, if you just don’t feel good, or even if you are healthy and curious, you might benefit from genetic testing.

HISTORY OF GENETIC TESTING

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All the way back in the 1860s, the first “genetic” work was done by Gregor Mendel as he demonstrated inheritance patterns in his garden of peas. Not until the mid 1950s did Watson and Crick discover the chemical structure of DNA, prove that DNA determined heredity, and start the field of molecular biology.

By the 1960s, scientists could produce DNA in a test tube, the first sequencing of DNA code was done, and by 1966 the genetic code was discovered, enabling scientists to predict characteristics by looking at DNA, which led to the field of genetic engineering and genetic counseling.

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In the 1970s, DNA was manipulated and mixed for the first time and in the 1980s Dr. Barbara McClintock showed that DNA could move around within our genes, reverse mutations, cause changes in inheritance patterns, and even turn on or off other genes.

By the late 1980s, scientists set out to map the entire human genome, only finishing this astounding feat in the year 2000. Meanwhile, DNA sequencing was starting to be used in forensics, plant hybridization and cloning.

Today, coupled with computer technology, it is possible to sequence genetic information millions of times faster. Just a few years ago genetic testing costs thousands of dollars and took months to accomplish. Now you can get detailed genetic test results in a few weeks that cost as little as $99.

A GENETICS PRIMER

In order to make any sense of genetic testing, one needs to understand a little bit about genetics. It all starts with the “chromosome,” which is the ultimate package of all our DNA information. Humans have 23 pairs of chromosomes, inheriting half from mom and half from dad. Within these chromosomes are sub-units of DNA information called “genes” and humans have about 20,000 genes.

Genes are made up of sequences of chemicals called the “double-helix” which looks like a ladder that slowly twists around and around. Each rung of the ladder has an amino acid on either side of the rung, and these “base pairs” of amino acids determine the code of our genes. Some genes have thousands of base pairs while some have millions that make up the code. Humans have about 3 billion base pairs!

Base pairs control the code for each gene, and genes make up the software that controls everything. The “genome” is the entire set of our genes. Only about 2% of our genes code for the production of chemicals that make life happen, while the other non-coding 98% seems to hold the blueprint for more mysterious reasons. The coding 2% of our genome has gotten the most study as it represents the software that runs things. Scientists are busy looking at the non-coding 98% to determine whether it is mostly evolutionary chatter or has an elusive but important role in life.

A mutation in a single base pair is called a “single nucleotide polymorphism,” which is abbreviated as SNP. Testing for SNPs is proving to be a concise and effective way to gather important and relevant genetic information.

GENETIC TESTING

The whole concept of testing your own genetic code is mind-blowing when you really consider how far genetic testing has come in a few decades. With testing so available and affordable, the questions now are should you test your genetics, exactly which portions, and to what end?

Some genetic information is just not that useful. To map my entire genome would mostly give me a cool artistic printout to paste up next my Pink Floyd poster in the game room. Similarly, knowing that I’m 14% likely to develop Alzheimer’s dementia compared to the 7% average does not help me all that much, as there is not anything really definitive I can do about it. Knowing I’m prone to something I can’t change is not all that helpful.

However, some genetic information can be utilized to improve your health. Couples with health issues that are inherited can do genetic testing to see if their offspring are likely to get the inherited diseases or not. Testing can help doctors diagnose a health condition so that patients know what disease they are dealing with. Certain health risks are amenable to intervention and genetic testing can alert patients to change behaviors or take supplements that would help prevent the disease expression.

EPIGENETICS AND NUTRIGENOMICS

The code for our genes can’t be altered, but the expression of the code can be turned on and off thus influencing the phenotype or the outcome of our genetic code. This is called epigenetics. Nutrigenomics describes how diet and nutrition can alter the expression of our genetic code. This is where genetic testing is at today and the potential for directing health is phenomenal.

One of the most important areas of genetic testing focuses on a biochemical arena that controls many of the most important areas in health, the “methylation pathway,” in which detoxification, cellular energy and DNA replication are all controlled. Mutations in this area can have far-reaching effects on health, causing symptoms such as fatigue, pain or headaches, or diseases such as cancer, dementia or heart disease.

Testing SNPs in the methylation pathway can uncover important genetic mutations that can be manipulated with nutritional therapies. For example, the most well-known SNP in the methylation pathway involves a defect in a step that requires vitamin B12. By giving extreme amounts of B12, the defect can be over-ridden. Other defects makes people sensitive to foods that contain sulfur or histamine. Another and they can’t make nitric oxide, which plays a role in blood pressure and cellular life. Another and they can’t detox chemicals well. Another and they can’t make cellular energy. This list goes on…

We’ve been doing more and more genetic testing and finding it most useful in sorting out complex medical disorders. Sometimes this genetic information leads to simple changes in diet or supplements that we would not have been able to guess without testing. The amount of information from SNP testing is overwhelming and complex — I usually consult with a Ph.D. expert in genetics with each test result, and I’m slowly getting more knowledgeable with this expanding and useful area of medicine.

My wife asked me, “Who would be a good patient to test”? Really anyone, when you consider the implications for improving health or being able to better predict what might be impending health problems while there is time to specifically adjust your genetic code. Wow.

Scott Rollins, M.D., is board certified with the American Board of Family Practice and the American Board of Anti-Aging and Regenerative Medicine. He specializes in bioidentical hormone replacement, thyroid and adrenal disorders, fibromyalgia and other complex medical conditions. He is founder and medical director of the Integrative Medicine Center of Western Colorado (www.imcwc.com) and Bellezza Laser Aesthetics (www.bellezzalaser.com). Call 970-245-6911 for appointments or more information.