There's a revolution taking place that's going to touch a lot of people's lives in important ways. It's the personal genomics revolution. Most of us associate genomics with health. And while genomics will certainly transform the practice of medicine, it is also changing the way we think about ourselves, others and the connections between us.
I was always curious about my genetic identity while I was growing up. My mother was Cuban. Given the recent European occupation of Cuba I always wondered were my ancestors lived before traveling to the island. Had we mixed with the indigenous people? Did we have any Sub-Saharan roots given Cuba's troubled history with the slave trade? Little did I know this curiosity would lead me to learn quite a bit about my genetic ethnicity and my ancestors.
I began my career in the pharmaceutical and biotechnology industry where it progressed from bench scientist to CEO. During those years I experienced first-hand the inefficiencies and frustration of bringing medicines to market. Simply put, the healthcare industry makes data collection and sharing difficult.
The lack of data was one of the two primary reasons that brought me to my current position where I'm helping bring personal genomics to all through direct-to-consumer tests based on the newest breakthroughs in science and technology. And while my focus is not medical, it is a unique opportunity to study human evolution, migration patterns, ethnic diversity and the history of our species.
It's common knowledge that everyone's DNA is unique, consisting of sequences of molecular patterns that - along with environmental and social factors - determine who we are. But there are also shared patterns that can be traced to specific geographical regions - patterns that can teach us with a high degree of scientific accuracy about our roots.
Working with a team of geneticists, bioinformaticists, statisticians and data scientists who study these patterns, we're exploring the genetic backgrounds of people with long standing documented histories in a variety of regions around the world. We can now compare them to a person's DNA using a simple saliva test. The results show what percentages of that individual's DNA can be traced to various regions. Besides revealing the test takers' previously unknown ethnic make-up, a DNA test can also help locate long-lost cousins through DNA matching by comparing their DNA to other individuals in our database.
This isn't easy! It requires a comparison of 700,000 DNA "letters" (bases, in scientific language) for a single individual against the 700,000 DNA letters of several hundred thousand other test takers. To do so, companies are now filtering this massive amount of genetic data as well as other data points through so-called big data analytical tools that didn't even exist only a few years ago.
The nature of the results we obtain is the second major reason I chose my current career path. How do you communicate these results to a lay audience in a way that fairly represents the findings, while leaving room for future improvements? In other words, while the results are remarkably accurate it is probabilistic analysis with a conclusion and an estimate of how likely it is that the conclusion is accurate. To over-simplify, the results could tell a person, "We think Jane Jones is a second cousin of yours, and there's a 98 percent chance that we're right," or "we think you're 40% Italian, but you could be anywhere from 25-53% Italian."
There's a challenge here that's going to be extremely important to the healthcare community in the coming years, as probabilistic genomic data becomes the basis for more and more decisions people have to make about drug regimens or even elective surgery. To date, this type of data has always been communicated through an intermediary. In the future, it's likely to be available directly - and what I do every day is teaching us how to best communicate it clearly and reliably, in a context where there is little at stake in comparison with medical situations.
As for me, I don't yet have all the answers, but have learned quite a bit about my ancestors. My Cuban ancestors came from Southern Europe although in addition to the Iberian Peninsula, I have strong Italian roots. More surprisingly I am predicted to have about 8% African and 3% Native American, which my family's fair skin would have never given away. I'd be very interested to know what knowledge has been a game changer for you.