In late 2013 I heard from our medical entrepreneur-in-residence (thanks Bojana!) that Illumina would offer its Understand Your Genome program in Canada for the first time: a whole-genome sequencing including a personal analysis. I had read a lot about genome sequencing and had considered doing a 23andme test before, but of course doing a full genome sequencing is much more interesting.
In February I had an appointment with a doctor at a private clinic to discuss the pros and cons of doing a complete DNA sequence. For me it was clear that I wanted to do it, but it’s good to have a chat with a medical doctor to understand the consequences: when you sequence your genome you might learn things you may not want to know. There could be some diseases that will kill you and for which there is no cure yet (e.g. Huntington’s disease), so if you find out that you have one of them it may deteriorate your quality of life significantly. The doctor agreed with me that it’s better to know in advance that you will get a certain disease so that you can be prepared for it, instead of suddenly getting it.
After that a blood sample was taken and used as the basis for the sequencing at Illumina in San Diego. A couple of weeks later my doctor called me and told me my results were in. For a moment I wasn’t sure whether it was good or bad news that he called me, but luckily he immediately told me that I was not at risk for any uncurable disease like Huntington’s or Alzheimer. I made an appointment with him to go through my test results, which turned out to be one of the most interesting meetings I ever had, because of the things that I learned about myself.
There are a couple of things that I am at higher risk for, but none is very serious and all of them can be prevented by small lifestyles changes (if needed). What I found interesting to hear and important to know, is that some kinds of medicine don’t work for me. For example, one of the most frequently used chemotherapies has no effect on me. Knowing that is extremely important in case I should ever get cancer. You may lose valuable time by doing a chemo that doesn’t work. Next to that I learned that my body metabolizes other chemo medicines much faster than other people, meaning that I would need 2-3 times the normal amount in order for it to be effective.
Today Illumina organized an event in Vancouver for all people in Canada that had their genome sequenced. In total only 19 people had participated in the program, much less than I had expected. I think the price may have been one reason. Despite the fact that we got a lower rate than usual it was still not very cheap: US$ 5000 for the full sequencing incl. analysis, normally this is about $10,000 per person. Especially the analysis is very labour intensive we were told, the sequencing itself now costs less than $1000. In 2000 a full genome sequencing still took 10 (!) years and cost a stunning $3 billion. Technology changes very fast.
It was an interesting group of participants, all of them seemed to be quite successful in the business or in the medical world (incl. several people from universities) and all were of course very interested in genomics. I was one of the youngest in the group, something that doesn’t happen very often anymore.
Illumina is the leading genome sequencing company in the world and so far 482 people have gone through their Understand Your Genome program. I didn’t realize that so few people had done this, but it’s a good feeling to be among the first people in the world that got their genes sequenced. By the end of the year they expect more than 1000 participants already and after that it will likely increase exponentially.
Today’s event was partly to teach all of us about genomics and about what you can do with your results. But it was also the moment that all participants received their full DNA on an iPad. I can tell you that that was a special moment, from now on I can literally carry my DNA with me. Illumina developed a chromosome browser in which you can compare the reference genome with your sequenced genome. Variation from the reference means that something has changed, which means that you can have a higher risk for a certain disease, or that you will have certain characteristics/traits (they can be good or bad) that others don’t have.
For example, during the event I looked at DNA variations that cause red hair, that lead to a craving for alcohol, to obesity, to lactose intolerance and to whether you have Cherokees in your family. Luckily none of these genes had a variance for me, not surprising considering that I don’t have red hair, am not addicted to alcohol and am not obese. For me this was a highlight of the day and it is something that I will probably spend quite some time on over the next months. I want to understand myself better and it’s a lot of fun to surf the chromosome data and learn more about myself. If you’re interested to learn more, take a look at SNPedia.com, it has a list of many DNA variances and what their effects are.
After today I strongly believe that DNA sequencing will change medicine completely, and fairly soon already. It will revolutionize the way medicine will be practiced. No longer a doctor will need to look at symptoms, but he or she can look at your DNA for the cause of a disease.
A prenatal test for Down syndrome with amniotic fluid won’t be necessary anymore with DNA
Medicine will change from treatment to prevention of illnesses. When you know that you will get lung cancer at 50 if you would smoke regularly (this is a variance I have actually, so I am extremely happy that I don’t smoke – and that I don’t live in smoggy China anymore!), you are very likely to give up smoking right away before it’s too late. If you know your body does’t metabolize certain things well, you can prevent eating them regularly. Or the opposite, if your body metabolizes them too quickly, you can take extra vitamins for that. It means we will stay healthy much longer and may avoid diseases we could not avoid without knowing our full genome.
Because costs go down so fast the expectation is that all babies in the US may get a full genome sequence upon birth by 2023-2024. Insurance companies may even pay for that because they will save a ton of money when doctors can see right away what disease a baby may have or may develop. It may seem science fiction to most people, but today’s event has opened my eyes: I have seen the future.
Awareness of what is possible is needed, most people have no idea what can be done with sequencing, so education is necessary. I expect people to be afraid of this, so they need to learn that having their full DNA available will have huge advantages for them. Think for example about personalized medicine: most medicines that you get in the pharmacy actually do not work for you, or at least do not work optimal. They are made for the average patient, a person that doesn’t exist in reality. Based on your DNA a pharmacy can make medicine just for you, using chemicals that your body can absorb and in the right amount.
And the more people get their genome sequenced, the more we’ll learn about what variances mean. Although I now have my complete DNA mapped out and could theoretically clone myself, the results of many of the variances that I have are still unknown. When new findings about gene variances come out I can immediately check if they have an impact on me. For example, a couple of months ago there was a study that found that wine may have a positive impact on your heart. That’s what newspapers reported without mentioning that it depends on a certain DNA variances. We looked the variance up today and unfortunately I did not have the it, meaning that I still love to drink wine but that it doesn’t make me more healthy.
Marc Andreessen famously said that ‘software is eating the world’, today one of the speakers changed that to ‘genomics is eating the world’. I agree with him. This is a truly disruptive industry that will make the world that we live in a more healthy and happy place. I am glad to be part of this pioneering group and will actively spread the word and get people to sequence their DNA as well.
If you can afford it, do it. It will change your life!