Originally published on Wired Innovation Insights, 3-12-14.
There is a growing interest among mainstream consumers to learn more about who they are and where they came from. The good news is that DNA tests are no longer reserved for large medical research teams or plot lines in CSI. Now, the popularity of direct-to-consumer (DTC) DNA tests is making self-discovery a reality, and is leading individuals to learn more about their genetic ethnicity and family history. My personal journey has led to discoveries about my family history outside of the United States. On a census questionnaire I am White or maybe Hispanic. My genetics, however, show I am Southern European, Middle Eastern, Native American, Northern African, and West African. And who knew that DNA would connect me with several cousins that have family living just 20 miles of where my mom was born in central Cuba?
Major strides have been made in recent years to better understand and more efficiently analyze DNA. Where are we today?
- Easier: DNA testing required a blood draw. Now, you can spit in a tube in the comfort (and privacy) of your own home.
- Cheaper: In 2000, it took about 15 years and $3 billion to sequence the genome of one person. Today you could get your genome sequenced for a few thousand dollars. To put that into context, if a tank of gas could get you from New York to Boston in 2000, and fuel efficiency had improved at the same pace as DNA sequencing, today you could travel to Mars (the planet) and back on the same tank of gas.
- Faster: Companies of all kinds are quickly innovating to keep up with demand and to make DNA testing more readily available and affordable. Illumina recently announced a whole-genome sequencing machine that could sequence 20,000 entire genomes per year.
- More information: We can now tell you things about your ethnicity, find distant cousins, tell you whether a drug is likely to benefit or harm you, and tell your risk of diseases like breast and colon cancer.
It isn’t all roses. There is a joke among the genetic community that you can get your DNA sequenced for $1,000, but it will cost $1,000,000 to interpret it. DNA is complex. Each of us contains six billion nucleotides that are arranged like letters in a book that tell a unique story. And while scientists have deciphered the alphabet that makes up the billions of letters of our genome, we know woefully little about its vocabulary, grammar and syntax. The problem is that if you want to learn how to read, you need books, lots of them, and up until recently we had very few books to learn from.
To illustrate how complex it can be, let’s look at how to determine a person’s genetic ethnic background. Say you are given three books written in English, Chinese and Arabic. Even if you don’t speak the languages you can use the letters in those books to determine what percent of a fourth book is written in each of the respective languages, since those three languages are so distinct. But that is like determining whether someone is African, White or Asian, which doesn’t require a genetic test. What if the three books were written in English, French and German that use a similar alphabet? That is like telling someone that is White that they are a mix of various ethnic groups. That is a much harder problem and one that usually requires a genetic test.
So how do we distinguish the different ethnicities using DNA? Since we don’t have a genetic dictionary that tells us what we are looking for, scientists use the genetic signatures of people who have a long history in a specific region, religion, language, or otherwise practiced a single culture as a dictionary. Once enough of those genetic sequences are gathered, teams of geneticists and statisticians use the dictionary to define what part of your genome came from similar regions.
How does big data play into all of this science?
DNA has been “big data” before the term became popularized. The real question should not be about how much data you have, but what you do with the data. Big data allows companies like Ancestry.com to compare 700,000 DNA letters for a single individual against the 700,000 DNA letters of several hundred thousand other test takers to find genetic cousins. That’s a lot of computational power, and the problem grows exponentially. To make all of this possible, big data and statistical analytics tools, such as Hadoop and HBase, are used to reduce the time associated with processing DNA results.
Given how far we have come in such a short time, what should we expect for the future of consumer DNA? The technology is moving so fast that it is almost worthless to predict. But what is clear is that we won’t come out of this genetic revolution the same. We are going to live better, healthier lives, and we are going to learn things about our species and ourselves we never dreamed of. And importantly, putting genetic ethnicity and family connection in the hands of individuals is going to tear down our notion of race and show how we are all family – literally. Maybe we’ll even treat each other a little better.
Ken Chahine is Senior Vice President and General Manager for Ancestry.com DNA.