What are your genes worth?
Only 30 years ago, there would have been no question about the price of genome sequencing, since the concept has not existed yet. The Human Genome Project began in 1990 with the aim of mapping the whole structure of the human genome and sequencing it, but no one thought that it will bring such staggering results and a completely new line of business – the direct-to-consumer genome sequencing industry.
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. The whole Human Genome Project cost approximately $2.7 billion for the US government, which is an insanely huge amount of money. Especially if you consider that in January, 2017, DNA sequencing giant Illumina has unveiled a new machine that the company says is “expected one day” to order up your whole genome for less than $100. This would mean that you might have a cheaper genetic test than a general blood test (for which prices vary between approximately $10-150). It is mind-blowing! In almost 20 years, the price fell from billions of dollars to the millesimal of the original cost.
Genome sequencing is becoming cheaper and faster than ever!
The price for genome sequencing has been in continuous free fall since the beginning. Only a few years after the completion of the Human Genome Project, the cost of the exact same research was estimated around $14 million dollars. Moreover, in 2006, Illumina’s first machine could sequence a real human genome for $300,000, and in 2014 the company announced it could do the same thing for $1,000! Nowadays, direct-to-consumer genome sequencing start-ups offer their services for $100-200. Even the shipping costs of the sample you provide the company are higher than the actual genome sequencing costs!!
And not only the price has been free falling, but the time needed for the whole sequencing project. The Human Genome Project lasted exactly 13 years, more than a decade. Lately, if you order a genetic test online, you can get the results within a few weeks. Moreover, the ambitious Illumina announced that its new machine could decipher an entire human genome in less than an hour. 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?
Why should you care? How could cheap genome sequencing impact your life?
For thousands of years, humanity hoped to peek into the future and its own fate through various methods ranging from palm reading through prophets such as Nostradamus until tarot cards. It was mainly the area of witchcraft and (mainly pagan) religion. As from the era of the Enlightenment, Western societies turned to Science for answers to the most burning questions of humankind, some started to believe in the omnipotent power of science itself. It is also true in the case of genome sequencing.
1) No prophecies.
Many believe that the sequenced genome carries information about the person’s fate itself: what kind of diseases he or she might have, when he or she is going to die. But that is simply not true. Genetic tests usually provide information about how likely it is for the 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 for the risk of diabetes in your genetic code, but you are overweight, you do not regularly do sports and have a stressful life, you might also end up diabetic.
2) No definitive answers.
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.
3) Healthcare is not prepared for mass genome sequencing.
Many assume that with the drop of the 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.
I had several genetic tests in my life. You could read about my experiences with Navigenics here, Pathway Genomics here, Gentle Lab there and Futura Genetics there. But when I brought my sequenced genome to various medical professionals, they could not really do anything with it. In Hungary, they could not even add it to my medical records. Well, I hope that in a few years, it will change and healthcare will discover the immense potential in genome sequencing and incorporate it into its daily working – but until then, we have to figure out by ourselves what to do with it.
What could you learn from your DNA, if I gave you the data right now?
a) Sensitivity to drugs
The myDNA genetic test promises to help you and your doctor personalize your treatment by selecting the most appropriate medications based on how your body metabolizes drugs, and the doses that my work best with you. As a consequence, your physician could improve your health outcomes, reduce the risk of side effects and you could also save 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 become a blondie. 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 carried out by MyGentle Labs 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 let your genome sequenced, you will get to know certain risk factors, which show you how much chance you have for getting a particular disease later in your life. Thus, you can get to know yourself better and get personalized solutions for preventing such diseases to get you. For example, my Navigenics test showed me that I have a 45 per cent risk for type 2 diabetes while the average population has a 30 per cent change. It means that I should take care of neutralizing the factors leading up to type 2 diabetes more than others do. So, I am exercising regularly, I do not smoke and I am doing everything for cutting out stress from my life.
What you could definitely not learn from your genetic test
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 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 it 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 has 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.
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 believe it is better that way. Let the universe work in its own ways, while you work in your own.
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 counselor or our own physician. And of course, if you have any doubts and questions, I’m more than happy to help as well! Reach out to me on Facebook or Twitter.