(This post is part of the Sinai and Synapses Discussion Forum, a collection of perspectives on specific topics. It is part of our Spring 2015 series Are We More Than Our Genes? For more on our series of videos exploring this question, please look at the post Our Genes, Our Selves.)
“The beginning of wisdom is to call things by their right names.” — Chinese proverb
Imagine a young couple, happy, and bubbling with anticipation over the birth of their first child. Only a few months are left before the big day. But then a sonogram reveals an anomaly – maybe in the shape of the skull, or the size of the kidneys. Something isn’t quite right.
Hearing such news is among the most devastating things a parent can experience. Thrown into panic mode, parents hunger for more information, and grasp for something tangible to help them understand what is happening with their child. Will my baby be OK? Will she be healthy? Will he be normal? What kind of life will she have? How will we all have to function?
It is a situation that cries out for a diagnosis. It demands to be named.
Sara Huston Katsanis of Duke University’s Science and Society works with families who find themselves in these extremely trying circumstances. She uses the newest technique of whole genome sequencing of the child and parents to examine their billions of pieces of genetic code.
Sorting though this tremendous amount of genetic information, the goal is to find clues — places here or there which might point to the source of the anomaly. Knowledge can give us some sense of control, especially when we feel totally overwhelmed,. It gives us power to assuage the tempest inside.
So if knowledge is power, then more knowledge would lead to more power. And that’s where “big data” comes in. Through big data, one can “see” how evolution creates, molds and destroys. Such processes can be seen in individuals, in groups of people and in all of humanity over time.
That’s why Dr. Greg Samsa, biostatistician in the Duke University School of Medicine, likes big data. He takes billions of pieces of genetic information from studies like Sara’s, reaches deep down inside, and tries to pull out its meaning.
In addition to finding the small clues that may diagnose rare conditions, Greg can look for patterns across many people and discern a view of life that most of us can’t possibly imagine. Big data forces us to think about numbers we don’t live with on a day to day basis. Whether it’s our genetic code or the age of the universe, big data creates billions and billions of pieces of information. Yet when we are able to make sense of the data, we can begin to see where we’ve come from, how we came to be and, perhaps, how we may be constrained in becoming who we want to be.
The ability to see more allows us to find more patterns, make more meaning and assign more names so we confront and even change the human condition. But that leaves us with several questions.
First, are we nearing a place where technology can tell us all or most of what we need to know? And if we are, do we let big corporations and institutions lead the way, with the regulatory agencies following behind slowly? If knowledge is power, then how should we use this power?
Even more importantly, where do questions of purpose, right and wrong come in? What happens when we are able to change our genes?
We welcome your thoughts to this discussion!