The blueprint of you: unlocking the potential of whole genome sequencing

Howard J. Jacob, Ph.D., was a member of the first team ever to use genome sequencing to diagnose, treat and cure a patient. It was 2009, and the patient was a 6-year-old whose symptoms baffled doctors for years. Working with scientists and physicians, Dr. Jacob’s team sequenced the boy’s DNA and diagnosed his rare disease, which allowed him to undergo a successful bone marrow transplant.

Almost a decade later, Dr. Jacob is using the same technology to potentially help millions of patients. As AbbVie’s new vice president and head of genomic research, he brings decades of genomic knowledge from academia and the clinic into the company’s labs. We spoke with Dr. Jacob about the current state of whole genome sequencing, and its potential for both patients and those simply interested in learning more about their “own personal blueprint.”
 

What is whole genome sequencing and how could this technology help scientists discover new treatments?

Jacob: Whole genome sequencing (WGS) is the process of reading a person’s DNA. This is a massive amount of data -- three billion chemical units in the DNA from your mom and another three billion chemical units in your DNA from your dad. The genetic information derived is essentially a personal health blueprint revealing potential disease risks, how you will react to certain treatments and more. When scientists look at these blueprints for millions of people, ultimately we hope to make new and better medicines.
 

What do you hope to accomplish in your new role at AbbVie?

Jacob: I hope to help more patients, perhaps whole classes of patients. After decades in a clinical setting, I will miss directly working with patients. But in many ways, I bring these patients with me into the research labs here, where I work with a large team to use DNA sequencing to determine what causes some of the world’s most challenging diseases.

Whole genome sequencing seems useful for patients suspected of having a rare disease. But what about people who are seemingly healthy?

Jacob: Bridges are inspected using blueprints by structural engineers so they don’t fall down. What if doctors could use our personal blueprints the same way? Completing the mapping of the human genome in 2003 took more than a decade and one billion – and that was to map just one genome. Today, the same process takes a couple of days for a mere fraction of the cost. I would love to see a future where genomes are sequenced the day you are born so you know your risk of getting certain diseases, the best treatments to take and even which foods to eat to stay healthy.
 

Have you sequenced your own genome?

Jacob: Of course! I would not let this technology pass me by. I discovered 50 common medicines that won’t work correctly for me based on my genetic makeup. I also modified my diet and reduced my chances of getting diabetes based on my results.
 

What does the future hold for genomic sequencing?

Jacob: In 20 years, I hope WGS is like the internet -- a technology that changed everything and is something we can’t imagine life without. Then, maybe we will be talking about curing and preventing diseases along with new treatments that are tailored to fit the makeup of individual patients.

 

If you hadn’t chosen science as a career, what else would you be doing?

Jacob: Science, exploration and forging new ground was my world even as a kid. When I was 5 years old, Jacques Cousteau was my hero; later in college, I switched my focus from marine biology to pharmacology, which was the focus of my Ph.D.
 

What’s written on your office whiteboard?

Jacob: Concepts for how we will use a million genomes to help discover new treatments. I want to use science and the latest cutting-edge technology available to help patients who need answers and new and better treatment options.