When I started my PhD in 2009, the industry of genomics was really loud about the upcoming era of the 1000 USD genome. Then I met George Church at Scifoo organized in Googleplex and he told me the same, it was coming. Meanwhile, I finished my PhD in 2012, then one more year passed and now Illumina announced they have a machine that can sequence an entire human genome for about 1000 USD.
In the past few days, the press has been loud about the era of the 1000 USD genome. Well, did we call it the smartphone era when the first developments related to future smartphones became public? No! We started calling our time the smartphone era when I could walk into a store and buy an iPhone or an Android.
The same goes for the industry of genomics. We will live in the 1000 USD era when I can walk into a lab and have my genome sequenced for less than 1000 USD in days. It’s not here yet, although it’s coming.
Moreover, I don’t think the cost of sequencing your genome will be less than 1000 USD, but totally free!
I’ve lived through the era of the Human Genome Project, then the Personal Genome Project, after that, the race to lower the price of genome sequencing, but what if sequencing your genome would cost nothing and you shouldn’t have to send your samples to laboratories full of sequencing machines, but you could sequence your genome at home using a USB stick.
We are not far from that.
To sequence anything longer than a few hundred base pairs, scientists mince up thousands of copies of the target DNA, sequence all the fragments, and use software to painstakingly reconstruct the order of the DNA bases by matching overlap within fragments. A new approach, called nanopore sequencing, can handle long strands of DNA at once, eliminating the need for overlap analysis. As a result, nanopore sequencers could be cheaper, faster, and more compact than other DNA sequencers. They can also accurately sequence stretches with many repeating base pairs. The MinION from Oxford Nanopore Technologies connects to a USB port. Soon, anyone with $1,000 and a computer will be able to sequence DNA.
A few months ago, Navigenics.com offered me to analyze my saliva sample and genome. I happily accepted the offer and was curious to see what they could tell me. After graduating from medical school, I will start PhD training in personalized genetics this September so I’m quite into this emerging field of medicine.
I sent my saliva sample back to their laboratory this January and received the results in about 3-4 weeks.
I clicked on View my results and saw what kind of risks I have for certain medical conditions such as glaucoma, heart disease, prostate cancer, Crohn’s disease or osteoarthritis (9 conditions all together).
When I check one medical condition, I see something like that:
They tell me my risk compared to the whole population.
And how that medical condition is affected by environmental and genetic factors.
And if I’m interested in the particular single nucleotide polymorphism they analyzed, I can check the details.
- The information this service provided me with was useful and I will change some things in my lifestyle.
- I can talk with a genetic counselor to discuss the results of my genetic variations.
- I can print the results and share it with my doctor through an understandable report that mentions the references on which they based my risk percentages.
- They help me what I can do in order to lower my risks for specific conditions. They also let me know things that prevent multiple conditions on the Navigenics panels.
- Each condition is covered in details (causes, symptoms, treatments, etc.). This information is powered by Mayo Clinic.
- I can find support groups or more information on prevention.
- Let’s say 3 SNPs tell me I have elevated risk for heart disease. But next year, they will discover 4 new ones that defend me from this condition. So Navigenics, just like any other similar companies, can only tell me risk percentages that might change a lot in the future.
- For example, if based on my genomic results, I have elevated risk for heart disease, what I can do to lower this risk? Exercises, healthy lifestyle, etc. Things you can tell me without analyzing my genome. Though it’s not the fault of the service, but of the state genetics is in at the moment.
- It’s still way too expensive compared to what I get for my money as the results cannot really be used for medical decisions (I got a free package so I know I shouldn’t say that).
- Well, a few genetic tests can be useful when making medical decisions, but such tests should be ordered only by medical professionals. Or if not, at least genetic counseling should be for free as patients need serious guidance when reading the results of their genomic variations. (Update: Navigenics provides free genetic counseling for all Health Compass members and 1 hour of free counseling for all Insight members. And you can order the tests through a medical professional or on your own.)
- I think I can handle many things but it was almost impossible for me to understand which documents I have to send back to the lab with my saliva sample. A step-by-step video tutorial would be useful.
I’m thankful to the Team of Navigenics.com for showing me how their service works in action. I’m impressed and looking forward to seeing how they can make their service even better.
Hsien-Hsien Lei shared her 2009 predictions about personalized genetics with us and that’s where I would like to leave a few comments.
1. 23andMe will begin selling their tests on drugstore shelves.
I think they would be sued soon.
2. President Barack Obama will be offered genome sequencing.
He cannot and mustn’t accept it.
3. Apple will launch iSEQ – instant DNA testing and analysis in a handheld device.
I don’t think Apple will ever enter this market.
4. The first 10 participants in the Personal Genome Project will band together to be called Fantastic Ten. Each will reveal secret superpowers that are embedded in their DNA.
That is a possibility. But if they think wisely, they will never do something like that.
5. The U.S. government passes laws to obtain DNA from all its citizens which it says will help protect the innocent and punish criminals.
It was only possible in Iceland and will never be possible in the US.
What I think about 2009 is that Navigenics will rule the market even if its service is more expensive than the kit of 23andMe.
I’ve recently discovered AccessDNA on Twitter and I thought I should give it a try. On the main page, it says I should create my personalized report. Well, let’s do so.
It asked me about the medical conditions that occurred in my family; environmental factors I have to face; tests I would be interested in, etc. And then I received the personalized genetic report; actually a list of genetic tests that might be useful for me.
What can I do with that information? Yes, of course I want full genome scanning. But should this be my decision? Not the decision of my doctor? Just beacuse I reported to be of Caucasian descent, I should order genetic tests that cost several thousands of dollars?
You know what? I would love to hear the opinion of Steve Murphy here. And yours!