Genome sequencing does definitely not equal fortune telling: it cannot predict how long you will live or what your body mass index will look like. However, it can tell you a lot about your sensitivity to drugs, your family history or whether you are a carrier of monogenic conditions.
After the Human Genome Project was completed 20 years ago (for a whopping $2.7 billion), the dream was to be able to sequence a person’s genome for 1000 USD. After this became feasible, the next dream was to make it even cheaper: now it costs around 200 USD after Illumina’s innovation came to life.
What is the next dream? To be able to analyse the data and draw clinical conclusions from that.
Wait, I can already have my genome sequenced for $100, can’t I?
Although it is often not trivial from the names of various service offerings, there is a difference between full genome sequencing and the sub-$100 offers that are based on “Genome-wide association studies” or GWAS in short.
You can imagine the difference like this: your DNA is a thick book.
Full genome sequencing is reading the book from cover to cover. Still, we are not necessarily understanding all of the content, but we are able to read all the letters and sentences.
Meanwhile, GWAS services – like 23andMe, Ancestry and the like – look into the book here and there, reading some sentences at one point, looking for a letter at another point and then using studies to find statistically relevant correlations between your results and results documented scientifically. Let’s say, ideally they provide you with an executive summary of the full story.
The real significance of the huge price drop in full-genome sequencing – from the short-term, consumer point of view – is that it drives down the prices of all other services. You can’t sell a GWAS result for 200 dollars if anyone can get their full genomes sequenced for the same price.
What are your genes worth?
Certainly, with the advancement of technology, the price dropped faster and more dramatically than the fame and fortune of the blood-testing start-up, Theranos. In 30 years, the price fell from billions of dollars to the millesimal of the original cost.
That all sounds fantastic and very exciting for every science-savvy person out there, but what should the average person do with it? What could you find out with the help of cheap genome sequencing?
What could you learn from your DNA if I gave you the data right now?
I have had several genetic tests in my life. Among a handful of others, I had my whole genome sequenced by Dante Labs, had the genetic test from Atlas Biomed, and another test by MyDNA. I learned valuable takeaways from all of these, helping me form a lifestyle that aims to counter my risks. Knowing that I have a higher-than-average risk of melanoma makes me especially conscious about regular dermatology checkups and minimizing the UV load on my skin. I try to fight my elevated chance of developing type 2 diabetes by eating healthy, exercising regularly, not smoking and minimising stress. The fact that I am at risk of knee arthritis is another factor in maintaining a healthy weight.
Let’s see some practical, useful info you can learn from your own test:
a) Sensitivity to drugs
The myDNA genetic test promises to help you and your doctor personalise your treatment by selecting the most appropriate medications based on how your body metabolizes drugs and the doses that may work best for you. As a consequence, your physician could improve your health outcomes, reduce the risk of side effects and you could also save a significant amount of money by avoiding ineffective medications. It is the best embodiment of pharmacogenetics to date. Based on the cheek swab sample I provided them, the company was able to show whether I have drug sensitivity for various basic drug ingredients, as well as whether I will have side effects when taking given types of medications. Truly useful information!
One of the most common uses of DNA testing is in uncovering family genealogy. Using consumer DNA testing services, you can uncover your family lines going back several generations. You can identify your racial makeup, familial ties and geographical background. For example, I found out that I am distantly related to Benjamin Franklin, which is kind of cool. At least, I can refer to my leadership skills as something I inherited from one of my famous ancestors (well, at least I’m going to claim that…). If you have a genetic test with 23andme, AncestryDNA or FTDNA, they will definitely provide you with information about your unique family history and past relations.
c) Information about monogenic medical conditions
In primary school, I had a very nice biology teacher, who tried to explain genetics through the genes which determine your hair colour. If you have parents with blond hair, you are most likely to become a blonde. However, if your dad is the carrier of brown hair genes, you might end up being brown-haired. So we have more genetic possibilities stored in ourselves than what actually appears. Concerning your health, it is really useful to know whether you have “monogenic medical conditions”. For example, a genetic test can show you whether you have any such conditions, which you might transmit to your children; and if your partner also has it, even cause health problems for them.
d) Information about your multifactorial medical conditions
Generally, there are two types of diseases. One of them is called the multifactorial disease, where genetic components and environmental factors play significant roles. When you get your genome sequenced, you will get to know certain risk factors, which show you how much chance you have of getting a particular disease later in your life. Thus, you can get to know yourself better and get personalised solutions for preventing such diseases to get you.
What you could definitely not learn from your genetic test
1) No prophecies on your fate
Many believe that the sequenced genome carries information about the person’s fate itself: what kind of diseases they may have, or when they are going to die. But that is simply not true.
Genetic tests usually provide information about how likely it is for a given person to be taken ill by a given disease, percentages and ranges for various risks that are “written” into our genetic code. Sometimes it impacts your life, sometimes it does not. It depends pretty much on your lifestyle. If you are susceptible to diabetes, but you have a healthy lifestyle, perhaps you will never be aware of that fact. However, if there are no signs of the risk of diabetes in your genetic code, but you are overweight, don’t regularly do sports and have a stressful life, you might also end up diabetic.
2) No definitive answers on your due date
Many believe that the genetic code is something static and never-changing as if written in the stone of Ayers Rock in Australia or the Rock of Gibraltar. Unfortunately, I have to disappoint everyone who thought that the genome is a constant imprint of our fate. It is rather an ever-changing roadmap where various DNA “regions” impact each other in complex and sometimes incomprehensible ways, altering it continuously.
However, for me, the most absurd idea concerning genome sequencing was that you might find out the date of your death if you do a genetic test. It is an outright falsehood: we are not programmed through our DNA and you cannot know what and when will things happen to you. I also believe it is better that way. Let the universe work in its own ways while you work in your own.
3) Healthcare is not prepared for mass genome sequencing
Many assume that with the drop in prices and the time necessary for mapping a whole genome, the potential in genetics and genetically-related medicine is widely known in medical circles, moreover, it is leveraged by more and more medical professionals. However, I have to disappoint again. Healthcare is definitely not prepared for mass genome sequencing. Although it is not niche anymore, most general practitioners are still not prepared to make sense of your DNA report and include its findings in their everyday practices.
4. No recipe for super-humans
A couple of years ago, China apparently started a massive genetic engineering program: they sequenced the genome of 2000 individuals chosen as the smartest people on the planet to find out the genes which determine human intelligence. They believe(d) if they find it, they will be able to allow parents to choose the most intelligent zygote as their future kid.
I believe it is sheer nonsense. As I mentioned before, your DNA cannot determine your exact future and it definitely cannot tell your particular characteristics down to the ground. You cannot figure out your weight, intelligence, mood or any other future trait from genome sequencing since the environment, lifestyle or eating habits have just too much of an impact. It’s the same with your risks for multifactorial medical conditions. There is no definitive percentage, there are too many factors influencing such health issues.
Genetics loads the gun, lifestyle pulls the trigger
So while we have no impact on what we inherit from our ancestors (although the CRISPR genome editing method might bring some changes there in the future), lifestyle depends on our decisions. We can improve it with data, feedback and good technologies. Also, the more we can learn from our genome, the more precautions we can take to prevent diseases or catch them as soon as possible.
So, do not hesitate to order a genetic test (but be careful when choosing one and do not buy an uncontrolled test), and try to make some adjustments to your lifestyle based on the results and their interpretation by a genetic counsellor or your own physician. And of course, if you have any doubts or questions, I’m more than happy to help as well! Reach out to me on Facebook or Twitter.
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