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Welcome to Season 2!

Dr. John Quackenbush: Using Massive Data to Approach Precision Medicine Beyond Simple Mutations


In this first episode of season two of the Precision Medicine Podcast, Dr. John Quackenbush discusses his approach to understanding what makes cancer cancer by studying entire gene networks rather than simple mutations. Dr. Quackenbush is Chair of the Department of Biostatistics at Harvard University's T.H. Chan School of Public Health and one of the first people to have worked on the Human Genome Project.


Our host, Jerome Madison, and Dr. Quackenbush jokingly equate the early days of genomic evaluation as the Flintstones-era of genomic sequencing as scientists have been struggling to know what to do with the vast amount of information available in DNA. Dr. Quackenbush points out, if you could read one bases of DNA per second, it would take 95 years to read off the three billion bases in one copy of the human genome—and that would only represent one half of the DNA of a person, because we actually carry two: one from our mothers, one from our fathers. The information is simply overwhelming.

Nevertheless, throughout his career, Dr. Quackenbush was encouraged by breakthroughs in the reading of DNA. He is especially optimistic about today’s technologies, which can generate DNA-sequence data in less time and for less money than ever before. For comparison, he says that when the first gene was sequenced in 2001, the cost was estimated to be about a hundred million dollars. Today, the cost of sequencing a human genome is around $1,000. He believes that this access to increased information at a greatly reduced price gives us the opportunity to ask and answer much more meaningful, complex questions.

Today, Dr. Quackenbush focuses on using massive data to look at gene networks rather than individual mutations. To explain why, he compares car maintenance to precision medicine, saying that, much like a car part, individual genes by themselves only give us part of a more complete picture. When the car breaks down, a parts list won’t necessarily help diagnose the problem—especially if it involves a network of parts that are wearing down or functioning incorrectly.


Similarly, when a body experiences cancer, a parts list for a gene, cell or organ can’t always tell doctors what is going wrong. Instead, they need to think about how these parts go together and put them in context to understand what is happening inside of a body.


Dr. Quackenbush says that this network approach will give scientists and doctors more insight into different aspects of what makes cancer cancer and a better understanding of how they can more successfully treat it in the future.

This extremely insightful discussion is the first in a two-part interview with Dr. Quackenbush.

Tune in to the full episode above and be on the look out for Part 2.

Download the full transcript of the episode here (pdf).


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About Our Guest

Dr. John Quackenbush is Professor and Chair in the Department of Biostatistics at the Harvard TH Chan School of Public Health. John’s PhD was in Theoretical Physics, but in 1992 he received a Human Genome Project fellowship. This led him through the Salk Institute, Stanford University, The Institute for Genomic Research (TIGR), and then to Harvard in 2005. John uses massive data to probe how many small effects combine to influence health and risk of disease. His work has been cited more than 70,000 times and among his honors is recognition in 2013 as a White House Open Science Champion of Change.


On Twitter at @johnquackenbush

On Linked In:

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