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.