Remember when the Human Genome Project (HGP) came out in 2003? This global research project determined the entire DNA sequence of the human genome. Our bodies have 3.2 billion sets of nucleotides (these are the building blocks that make up DNA). And, the human body has between 20,000 to 25,000 genes. Genes are segments of the DNA that code for a specific protein. They instruct your body on what’s supposed to happen on the inside and outside of your body – the way you think, the way you look, what disease you might get, the smarts to become a Jeopardy champion. And, a fun fact about DNA is that if you took out one DNA strand from one cell, you could stretch it 6 feet! Say what?! You want to hear something even more mind blowing? Each of these strands are bundled up on histones (little proteins) to form chromosomes! Every cell in our body contains 23 pairs of chromosomes.
DNA provides our bodies with a special set of instructions for our entire life! Some of it we can’t control, and some of it we CAN control through epigenetics (how the outside environment affects our genes). If you want to know an extensive history on the origin of epigenetics and how it works, click here and here.
Epigenetics is a vital term to be aware of from a self-care perspective, as this gives us hope as to how we might be able to change our environment in order to reduce the risk for developing diseases, like cancer, lupus, heart disease, etc… So, make sure you consume lots of colorful fruits and veggies and practice lots of de-stressing activities each and every day! This makes an impact on reducing the likelihood of developing acute and chronic diseases. No matter what our inherent genes say, you have the ability to influence them!
So, how do you even know what you’re at risk for? Your genes aren’t knocking on your brain’s door telling you that you might have a predisposition for a certain type of cancer. In 2009, the HGP revealed the discovery of 1,800 genetic diseases, which gave the opportunity for scientists to test for 1,000 of them! And, did you know that if you wanted get tested, it would have costed you up to $2,000 10 years ago?
On top of that, there was the good ol’ controversy about insurance companies, physicians, and employers placing discrimination on your genetic code, assuming you might be a liability (cost more or considered not suitable for work) or taken advantage of through unnecessary procedures and worry. How would ethics be monitored from a physician and insurance standpoint? Luckily, individuals gained political protection through The Genetic Information Nondiscrimination Act of 2008. It states individuals cannot be discriminated against by insurance companies or employers.
At the same time, genetic testing companies decided to market direct-to-consumer testing so individuals could do this from the privacy of their own home – and not have to reveal their results to anyone or see a doctor (for some tests). This also made it much more affordable. Direct-to-consumer testing is where an individual obtains a test, either through a lab company, online, or his or her local pharmacy, and follow its instructions. Sometimes the results are immediate, and sometimes you have to send the test to a lab or physician.
If you’re thinking about getting your DNA tested, make sure that it’s approved by the FDA. I would recommend 23andMe. Not only does it test your ancestry (which can be helpful in determining your risk factors), it also focuses on your health, wellness, carrier status, etc. So far, it tests for BRCA1 and BRCA2 (the breast cancer genes), celiac disease, macular degeneration, late-onset Alzheimer’s disease, Parkinson’s disease, hereditary hemochromatosis, thrombophilia, and antitrypsin deficiency – all of this costs only $200. All you have to do is order the test, give them a saliva sample, and they’ll send you back the results and offer where you can get support or counseling if needed. 23andMe has a database where they have the ability to collect your genetic information and share it among scientists to help determine the future of our health!
Since scientists have been able to map out the gene sequence for certain types of cancers (more and more each year), this means there will be an inevitable rise in innovative healthcare technology.
So, where does artificial intelligence fit into all of this? Software designers involved in healthcare have been able to collect this genomic data using an artificial intelligence platform that’s able to read sequences of the gene data, categorize it – including patient diagnoses, risk factors, received treatment, and how he or she responded to it. Artificial intelligence is even able to read histologic slides and input the information into a data system! Never thought I’d see medical technology like this in my lifetime, but here it comes!
Tempus, a medical software company, is putting all of this onto one big platform to help improve patient outcomes. Eric Lefkosky, co-founder and CEO, states that instead of “trying Herceptin on cancers that we may not know will work or not, you can look at the plethora of data of people with the same diagnosis and same genetic mapping of the disease and see if that drug did, indeed, or did not affect the cancer.” This saves physicians, patients, family members a lot of money, time, grief, and pain and suffering when they have this kind of information at their hands. This is how artificial intelligence and genomics could be the future for personalized cancer treatment.
Right now, we have a federally required electronic medical records system instilled into Western style hospital system. Its goal is to mainly get money from insurance companies as well as document patient visits (little to no data is collected from a health standpoint – just coding for billing purposes). Lefkosky’s goal is for Tempus to be adopted into the hospital system – just like the medical records system – so data can be collected to personalize cancer treatment (and other acute and chronic diseases). Not only will this streamline patient care, it will act as a form of evidence-based research in order to make advancements in medicine. In other words, if Tempus gets adopted into hospitals, thousands of physicians could potentially be contributing to an extremely large nation-wide, and possibly international-wide, research study to further revolutionize healthcare.
Who knew that the HGP would provide such a big stepping stone in medical technology 15 years after it had mapped out the human genome? The National Human Genome Research Institute stated in 2011 that “profound improvements in the effectiveness of healthcare cannot realistically be expected for many years…” Maybe the time has come quicker than they once thought.
Note about direct-to-consumer testing: Some states in the United States may not allow for some direct-to-consumer testing (while you may be able to order the test, you may not be able to submit your samples back to the company). Make sure you do your research. 23andMe now allows saliva samples to be sent out New York and Maryland (which had previously not been allowed). As of 2017, New Jersey, New York, and Rhode Island are the only states that don’t allow for direct-to-consumer testing, unless otherwise stated. It is highly advised you check with the testing company to find out if there might be limitations in your state.
23andMe. (2015, Dec 5). 23andMe Genetic Service Now Fully Accessible to Customers in New York and Maryland. Retrieved from https://mediacenter.23andme.com/press-releases/23andme-genetic-service-now-fully-accessible-to-customers-in-new-york-and-maryland/
Boise State University. The Structure of DNA. (n.d.). Retrieved from http://cs.boisestate.edu/~amit/teaching/342/lab/structure.html
Dupont, C., Armant, D. R., & Brenner, C. A. (2009). Epigenetics: Definition, Mechanisms and Clinical Perspective. Seminars in Reproductive Medicine, 27(5), 351–357. http://doi.org/10.1055/s-0029-1237423
Genetics Home Reference. (n.d.). What is the cost of genetic testing, and how long does it take to get the results? Retrieved from https://ghr.nlm.nih.gov/primer/testing/costresults
Green, E., Guyer, M., & National Human Genome Research Institute. (2011, Feb). Charting a course for genomic medicine from base pairs to bedside. Nature, 470: 204-213.
Retrieved from https://www.genome.gov/pages/about/planning/2011nhgristrategicplan.pdf
Inside Life Science. (2012, June 11). Genetics by the Number. National Institute of General Medical Sciences. Retrieved from https://publications.nigms.nih.gov/insidelifescience/genetics-numbers.html
Marietta, C., & McGuire, A. L. (2009). Direct-to-Consumer Genetic Testing: Is It The Practice of Medicine? The Journal of Law, Medicine & Ethics : A Journal of the American Society of Law, Medicine & Ethics, 37(2), 369–374. http://doi.org/10.1111/j.1748-720X.2009.00380.x
National Human Genome Research Institute. (2013, April). An Overview of the Extramural Research Program. Retrieved from
National Research Council (US) Committee on Mapping and Sequencing the Human Genome. Mapping and Sequencing the Human Genome. Washington (DC): National Academies Press (US). (1988). Introduction. Retrieved from: https://www.ncbi.nlm.nih.gov/books/NBK218247/
Rockwell Parker, M., Feng, D., Chamuris, B., & Margolskee. (2014). Expression and nuclear translocation of glucocorticoid receptors in type 2 taste receptor cells. Neuroscience Letters, 571, 72-77. https://doi.org/10.1016/j.neulet.2014.04.047
Sharma, S., Kelly, T. K., & Jones, P. A. (2010). Epigenetics in cancer. Carcinogenesis, 31(1), 27–36. http://doi.org/10.1093/carcin/bgp220
The Tech Museum of Innovation. (n.d.). What is a Gene? Retrieved from
University of Leicester. (n.d.). DNA, genes, and chromosomes. Retrieved from
U.S. Equal Employment Opportunity Commission. (2008, May 21). The Genetic Information Nondiscrimination Act of 2008. Retrieved from https://www.eeoc.gov/laws/statutes/gina.cfm