Raw data from genetic testing is a valuable tool - Mary Caire MD
Genetic testing is a powerful tool and when combined with personalized medicine, allows us to optimize our health.
genetic testing, 23 and Me, personalized medicine
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Raw data from genetic testing is a valuable tool

Raw data from DNA genetic testing

Raw data from genetic testing is a valuable tool

I believe that every person can gain valuable insight about his or her overall health and future health risk factors through genetic testing and the raw data we can extract from it. Last week I had a new patient tell me, “Both of my parents died of heart attacks before the age of 60, in spite of leading healthy lifestyles”. He seemed resigned to the fact that his life would probably end in much the same way within the next couple of decades. When I explained to him that his genes were not necessarily his destiny, and that by understanding his genetic risk factors we could impact the expression of his genes, his demeanor changed. I could see a spark of hope in his eyes.

My patient started his family in his mid-40’s and the thought of walking his daughter down the aisle one day seemed an unlikely dream. I explained that we now have the ability to maximize health by utilizing and personalized medicine and genetic testing – a powerful tool unavailable in his parents’ lifetimes. Epigenetics is now being seen as the most valuable health tool in the history of modern medicine, because it studies the interaction between genes and the environment. In other words, your genes are not necessarily your destiny.

Newton’s 3rd law states that for every action, there is an equal and opposite reaction. Who would have thought that this would also hold true at the level of our genes? We now know that a simple action, such as a hug, can turn genes on or off and have health implications that can affect our not only our health today, but also the health of generations to come. It is mind blowing that every action in our lives can be said to have an equal and opposite reaction at the level of our DNA.

I recommend that my patients get testing through a company called “23 and Me,” named after the 23 chromosomal pairs that code the human genome. It’s a direct-to-consumer test that anyone can order online by paying $199 and submitting a saliva sample to the testing company. (I have no connection to the company.) Although there are countless arguments about privacy and how the genetic data may be utilized in the future, I still believe the health information gained through this testing is worth more than any theoretical privacy concern. That said, many of my patients who were concerned about their privacy chose to use an alias for the testing.

A few years ago, 23 and Me was providing its clients with limited health information, but the FDA stepped in and restricted them from providing anything other than ancestral information. The FDA stated that genetic testing should only be done through the supervision of a qualified health care provider such as a physician. The regulations recently loosened and limited health information is now being provided through 23 and Me. I have not found the health information provided by 23 and Me to be clinically relevant in most of my patients, however the raw data provided by the company can be extremely valuable.

Anyone who completes the testing can go into the raw data section of their online report and download their raw genetic data. Currently, several hundred thousand genetic risk factors (called single nucleotide polymorphisms or SNPS) can be analyzed through this raw data.

We have only touched the tip of the iceberg of how this raw data can be utilized to improve our health. Right now online raw data analysis is available through many companies. Some are valuable, reputable, and reasonably priced, while others are limited, costly, and unethical. Care must be taken to avoid unethical usage of this precious information.

Currently I use several companies that I have researched and found to be unbiased and scientifically sound. (I have no financial connections with these companies.) I typically use:

It is an arduous, big data problem to analyze all of these reports and make health decisions based on the most significant findings. I take this process very seriously and spend many hours each week researching this constantly-changing environment. I have found a few hundred SNPS that I focus on routinely in my patients. I make clinical recommendations on the SNPS that have been well studied and found to have the most health benefits. Start a conversation with your doctor about genetic testing and ask if they’ll work with you to utilize the power of your own DNA to improve your wellness.

A friend of mine who works for a big data analysis company once said, “Big data is fascinating because you don’t know what you don’t know.” Big data analysis can show us what we don’t know. DNA is very big data. I am excited to watch our database grow and to learn through computer analysis what humans could never understand on their own. Maximizing health through DNA data analysis has the potential to solve many of our health problems if we take appropriate actions based on the results.

I’d love to hear how learning about your genetics has had an impact on your life. Please share your thoughts below.