I Got My Whole Genome Sequenced. Here’s What I Learned.
Dante Labs sent me their Full DNA whole genome sequencing package, and I went through a roller-coaster of feelings: I was excited to know every secret of my DNA, but I was afraid of getting to know my hereditary cancer risks and worried what else I might find. As in my case, (scientific) curiosity usually overrides fear, I jumped into the unknown and I’m eager to share my results here.
Whole genome sequencing is available to anyone. So what?
The human genome is the blueprint for building a person. When the Human Genome Project was completed in 2006, and the DNA double spiral uncovered its secrets for the very first time, scientists agreed that it’s just as a revolutionary moment for mankind as Neil Armstrong stepping on the Moon. Researchers said that learning about the functions of genes and proteins will have a major impact in the fields of medicine, biotechnology, and life sciences.
Although the technical conditions, the time and the cost of sequencing genomes were reduced by a factor of 1 million in less than 10 years, the revolution lags behind. Before you start worrying, I can assure you: it will come. When the price of genome sequencing reaches that of a blood test – it is already dropping below $1000 – and the data analysis will happen according to layers (and special pricing according to the various batches of information!), we will see how many areas of our lives genetic information impacts. It affects pharmaceutical decisions, lifestyle and dietary choices, disease prevention plans, the human aging process and life expectancy in general.
However, the latter has been questioned over time for the advantage of environmental factors. In the 1990s, scientists estimated that genetics has a 20 percent say in the human life expectancy, however, it was already reduced to 15 percent in a study conducted in 2011, while a research published this year also concluded that human relationships and the environment, in general, have an overwhelmingly more dominant effect on the lifespan of individuals than genetic inheritance.
Expectations as high as the Mount Everest
Over the years, I have already gathered a lot of experience regarding genetic testing – with Navigenics, Pathway Genomics, My Gentle Labs, Futura Genetics, just to name a few. I have learned what medication would have a side effect on me; what major conditions I’m at risk for; why I have certain features such as the inability to run marathons and what I can expect from the future. Our team even reviewed the BRCA test produced by Dante Labs.
However, the difference between genetic tests and whole genome sequencing is like that of a seat on the bus or having your own car. With the first, your route is kinda determined and you only have one seat – it’s partial. With a car, you have infinite chances where to go and you own the entire vehicle. The majority of direct-to-consumer genetic tests determine various single nucleotide polymorphisms (or SNPs). These can act as biological markers, helping scientists locate genes that are associated with a disease. When SNPs occur within a gene or in a regulatory region near a gene, they may play a more direct role in disease by affecting the gene’s function. In the end, however, SNPs are only indicators of health risks, and a great deal of information remains hidden in the genome.
Thus, I expected that Dante Labs, which is working with leading genetic labs in the United States, Europe, and Asia; and partnered with Harvard University, Amazon, the Global Alliance for Genomics & Health or Privacy Shield Framework, will offer me a crystal-clear overview of my chances for a healthy life. I wished to see what conditions I could prevent, what medications I should avoid – and what does my body carry in general.
As the DNA package contains a hereditary cancer report with risks, e.g. for colorectal or prostate cancer, I was nervous for weeks what they might find. However, I do believe that you have to think proactively and that it’s better to know the risks and to ensure preventive measures than bury your head in the sand, so after a while I let my fears go and started to become rather curious what I will know. Perhaps naively, I had the sense that I can add a significant chunk of new information to the familial health landscape – since I can uncover such genetic health risks as no one ever before.
The sampling process was as familiar as stampedes around Black Friday
There is a commonly known sampling process when it comes to genetic tests, and it is almost the same in the case of the Dante Labs whole genome sequencing package. Same old, same old. Just as you would expect crazy crowds on Black Friday in shopping malls, you can prepare for a saliva test here.
You cannot eat, drink, smoke or chew gum for half an hour before you do the sampling, and then you are instructed to give some saliva into a tube. You screw on the cap, which will release the DNA preserving liquid, you mix the materials and then seal the container. As it is a biological sample, you have some administrative work to do, but there was truly no difference compared to other tests. Actually, the process is so standardized by now that you can buy a kit online to collect “superior samples” at home. Oh, capitalism, you have an investor for everything.
The waiting period was as nerve-racking as filling the time until the final season of GoT
Two months. Eight weeks to be precise. That’s two years for an Anatolian shepherd dog! China is even building cities in the size of Rome every two months for the last decade… so while I had to wait for the results, Chinese construction workers established a new (ghost) city somewhere in the mainland. Nevertheless, the situation was not that miserable, as I could follow it on the online platform whether my sample arrived, where the processing stands and what I could expect.
Thus, I waited. As you could imagine, that’s NOT among my favorite activities. What could I do to pass the time? I went to my primary care physician to tell her that I expect such a sample (side note: she hasn’t gone through the results yet, I’ll let you know as soon as she does so) and asked her to help me in interpreting the results. Besides, I also checked what kind of reports they will send me. I was expecting a thorough health and wellness report and an overview of my risks regarding genetic diseases.
Joy and happiness: the results arrived!
Finally, my report of altogether 163 pages and my raw data was available. Dante Labs sequenced all the 3,095,677,412 base pairs that I possess and gave me a thorough overview of myself. That’s fascinating and weird at the same time.
At first, I was baffled by the size of the document and I was afraid that I’ll have cyberchondriac tendencies. However, the report supports interpretation with several “crutches”: they emphasize the likelihood of the risks, they include various illustrations and scales to visualize the results, and they also divide the outcome based on the prevalence of evidence. Thus, there is a difference between having a risk based on one study or fifty – more evidence certainly gives more weight to a risk and it helps the tester to put the results into perspective.
Bearing these in mind, I went through the report. Although I already knew some of the results from previous genetic tests, the majority of the findings was entirely new for me, and I understood a lot more about myself. In some instances, I even found the explanation for my inclination towards activities. For example, I read sentences like your genes indicate you are likely to excel at power-based sports and training, but less likely to be good at endurance sporting activities. For all my life, I have been aware of the fact that I’m not a long-distance runner, but now also understand why I had the tendency to choose sprints and why I’m better at running fast for short distances. Nevertheless, on the same page, I was also glad to read that I don’t have sickle cell trait or that I’m not predisposed to an abnormal amount of exercise-induced fatigue.
I was also informed that I have a moderate risk for melanoma, which I already knew from previous genetic tests. They informed me that tanning beds or sunburns are highly avoidable for me – although I did that pretty much for my entire life. Another previously known fact about myself was my predisposition to thrombosis. They detailed that I have a Factor V Leiden mutation and a Factor V R2 mutation. The report said that means I have a slightly elevated risk for abnormal blood clots forming in my veins.
Pharmacogenomic findings and the need for advice
The report had a special section devoted to pharmacogenomics, which deals with the variability in drug response due to the genetic code. It argues that despite general sentiments, medications do not have the same effect on people. Some doctors already highly recommend genetic testing before any prescription of, e.g. Warfarin, a type of anti-blood clotting drug takes place. Dante Labs also tests for Warfarin, and it turned out I have a slight resistance towards that.
Nevertheless, I received information about how my body metabolizes more than a hundred drugs, which is incredibly useful. For example, my cholesterol level is usually higher than the reference value, however, I would definitely have severe side effects if I took prescription pills for high levels of cholesterol. That means a risk for cardiomyopathy, for example. Moreover, the test revealed that I have a risk to develop lactose intolerance as an adult – and I already suspected that, and now the report confirmed it.
However, I had no idea before that I have a high risk for knee arthritis and moderate ones for hip and wrist arthritis, so I should rather not gain weight during the years and I should not wear high heels quite often. That latter came as a real shocker. But jokes aside, I’m glad that I know about these risks alongside with the risk for atrial fibrillation, cardiovascular disease, colorectal cancer or brain aneurysm.
All-in-all, I was very curious and fascinated to read the overview. I also thought that as a geneticist, I will not have any problem even with the most stringent medical explanation. However, when I went through the entire report, I had to face the truth: I need a genetic counselor to make the right conclusions. So I turned to Dante Labs and my primary care physician.
Pieces of advice from a genetic counselor
In the quest to understand my genetic code, I asked Dante Labs whether they have a genetic counselor. It turned out they cooperate with the DNAfeed.com team, but they don’t have an advisor on their own. When you go to the site, you provide your e-mail address and upload the raw data, then a smart algorithm analyzes it and compares it to the latest scientific findings, and in the end, you have the chance to talk your results through with a specialist.
I had many privacy concerns about whether or not I should share my genomic information with the team. I started to do my research, and it turned out that the service is HIPAA-compliant, information sharing is protected and encrypted, so I took a deep breath and uploaded my sample. And then I asked. Tons of questions.
I was curious whether I had any significant risk that I should definitely be aware of and take into consideration when making lifestyle choices. I wanted to know whether I had certain risks against which I could individually act or whether I possess a genetic factor that I should always keep in the back of my mind.
The clinician calmed me by saying I don’t have any mutations in any of the known genes that may substantially increase my risk of hereditary cancer, for example, BRCA. The counselor mentioned the slightly increased risks for melanoma and colorectal cancer, but also explained the steps to take to prevent them: proper skin protection from sun exposure and consider periodic skin checks with a doctor; getting the recommended screening with colonoscopies to catch any potential tumors early.
Moreover, the physician explained that I have a Factor V Leiden mutation, which is a specific gene mutation that results in thrombophilia. That gives me a slightly increased tendency to form abnormal blood clots that can block blood vessels. Nevertheless, he also added the much-needed context: this is a common mutation that 3-8% of people may have, and most people with this mutation never develop clots.
That’s the primary reason why I decided for genetic counseling. You need to hear from a clinician that if you have a gene mutation or SNP, how likely it is going to cause you any problems later on and how likely its prevalence is in the population. In the case of thrombosis risk, I will also do everything to avoid it: I do what it takes not to gain weight and I regularly do sports.
The digital afterlife of my DNA data
I am content that all these pieces of valuable information are available for me – and my future self. However, the data set is also at the disposal of the company – and many people are afraid to have a genomic test mainly due to concerns of misuse of personal data. So I asked Dante Labs what happens with my sample and DNA after the testing procedure. They told me they discard the saliva samples after the delivery of the results. However, customers can ask the enterprise to keep the DNA if they wish to do that.
Dante Labs stores the genetic reports in their database so that customers can always have access to them. On the other hand, they don’t share data with friends, family, healthcare professionals or other individuals – that’s up to the customers.
As the majority of genetic testing companies, Dante Labs also asks everyone whether they consent to the use of data for scientific research. Recently, it turned out that pharma companies invest heavily in direct-to-consumer genetic testing firms, thus I inquired about the nature of research done by Dante Labs. They told me that they run internal research for advancing science in the field of precision medicine. However, if the customer wants to opt-out, there’s an option for that, too.
For me, the whole genome sequencing report turned out to be liberating on the one hand and gave me much to process on the other side. After I learned all the risks that my body carries for the future, I went to my primary care physician to discuss how I’m going to fight the battles with my genes. As she has my entire medical history, she is the most appropriate medical professional to discuss the way forward for me. She suggested yearly dermatological exams, and she also drew my attention to the fact that if I ever have to go to the hospital and lay in bed for 1-2 days, I have to receive anticoagulants. As she was also concerned about the colorectal cancer risk, she promised me to go after more relevant studies and will get back to me soon.
While the information encoded in our DNA is unalterable (for the moment, at least), the environmental factors depend pretty much on us, humans. And as scientific research proved, that has a lot more impact on a person’s life expectancy, for example, than genetics.
Thus, as a next step, I will pack up my health sensors and trackers, go to the specialists and make a plan on how to avoid my genetic risks. Fortunately, I’m not alone in my fight – and you are also aided. By technology and great medical professionals. That’s why I advise you to have your whole genome sequenced. I already ordered two further kits – one for my wife and one for my daughter, Mira, too. So, you can prepare for your own future in time – to get from chance to choice.
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