In the 1990s, scientists from all over the world set out to map the first human genome, helping us understand what makes us human at the molecular level.
Fast forward to today: News recently broke that the human genome had finally been fully sequenced. These discoveries filled in 8% of the missing map — what amounted to 200 million missing base pairs of DNA.
Besides teaching us about what makes us tall, what could make us live longer, and what helps dictate whether we’ll be future Olympians, genes can tell us how we’ll respond to medicines on a molecular level — and we’re already seeing some of the results of that today through a tailored approach to science and medicine called precision medicine.
But let’s back up. To understand where we are with precision medicine, we need to understand the human genome.
Your genome is you: More than 3 billion base pairs of DNA that live in all of your cells. If you stretched out the DNA in just one cell, it would measure about two meters tall.
Even though we’re made of 3 billion base pairs of DNA, humans are still, genetically, 99.9% identical. It’s that last 0.1% that dictates what makes us unique, whether that’s to indicate if we’ll be tall enough to dunk a basketball, or how our bodies respond to certain medicines.
That last bit is where it gets interesting.
“In my particular case, there’s 50 different medications that are modified or I can’t take because of my DNA,” says Dr. Howard Jacob, Vice President for Genomic Research at AbbVie, who sequenced his own genome. “In some cases I actually will metabolize [certain medications] faster, which means my body chews it up. So the dose I take is actually not the dose that my body sees.”
How our bodies respond to different treatments is the core question for scientists who work on precision medicine — and helps us understand more about a disease than just the symptoms.
“My son developed autoimmune disease when he was three months old,” says Dr. Sunhwa Kim, Associate Scientific Director of Precision Medicine at AbbVie. “The pediatric specialist applied precision medicine for my son. I experienced the values and I want other parents to experience the maximized benefit from precision medicine. That’s why I’m doing this.”
For Jacob, knowing how his body interacts with certain medicines means his doctors can tailor his treatment for him — and pick a prescription that he won’t need to alter. But what does that mean for finding medical solutions for everyone else? Well, to understand how treatments will affect a huge group of people, you need a huge group of data. The tools to make that science possible exist at AbbVie today.
“One of the things I’m very excited about at AbbVie is we have a million genomes,” Jacob says. “That’s an amazing amount of data. We have the ability now to go in and start asking questions at a large scale.”
But science is still evolving. Scientists are hard at work collecting the biomarkers they need to understand how our bodies react to treatment — and, hopefully, creating a deeper understanding of how to find the right treatment faster.
“I want to be part of this journey for the patients who are not responding to existing medicines,” Kim says. “Solving that puzzle, it’s exciting.”
Like the ocean around us, there’s still so much to understand about our genes. But the more we know about ourselves, the more precise our medicine can be. And as more people share their genetic maps, the closer we get to understanding who we are.