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Beating Disease to the Punch

A doctor discovers the power of genetic medicine in the Biomedical Informatics program—and his path forward.

Written by Philip Baker
Wasay Khan

When Wasay Khan finished medical school, he was hardly aware of the field he now finds so fulfilling.

Khan took a year off after graduating medical school to pursue research and study for his boards. On the internal medicine track, his plan was to get a research fellowship with the hopes that a publication might come out of it.

“I was in Chicago doing general research and using basic research tools,” he says. “Nothing too complicated, just some basic programming and analysis aimed at optimizing care. That was really my first experience handling big data directly.”

But something clicked during these early experiences working with data, and Khan started to see the practice of medicine in an entirely new light. “My early experiences working with big data showed me how powerful it could be in the medical context,” he says. “That you could take the data of 5,000 patients and isolate the significant factors to prove your hypothesis was really eye-opening. It made me thirsty for more.”

His search for more led him to University of Chicago’s Master of Science in Biomedical Informatics (BMI), a program designed to train healthcare professionals to analyze and use the vast amounts of data made available by recent advances in technology. After speaking with program faculty, he realized the program was the perfect way to acquire the bioinformatics programming fundamentals he’d need moving forward.

“My brain was full of biology and cell infrastructures, but I’d scarcely even heard of computational biology and data mining before starting the program,” he says. “Starting the program gave me a whole new feeling. There was so much more to medicine than I thought I knew.”

The Power of Data

As it turns out, bioinformatics was the perfect complement to everything Khan had learned in medical school. 

Having arrived at the BMI program eager to improve patient care by analyzing data, his exposure to bioinformatics’ role in genetics and next-generation sequencing (NGS) refined his vision further. He even shifted his focus from internal medicine to pediatrics. 

“The BMI program opened the whole field of genetics to me,” he says. “As a doctor, I was more in the middle of everything, but sequencing genomes and studying mutations situates you at the root of things. With bioinformatics, I now have access to where it begins and where it can end.”

For his capstone project, the culminating experience of the BMI program where students put the skills and knowledge they’ve acquired into practice, he focused on cancer genetics. Specifically, he contributed to a lab at the University of Chicago researching a subset of X-chromosomes whose activation is thought to play a role in causing certain cancers.

“That was my first approach to bioinformatics head on,” he says. “We were focused on analyzing tumor genes that might lead to cancer in a subset of a population. We also studied different cancer types to see if they were involved in the X-chromosome. The results will lead to new approaches to preventing the disease.”

The enormous potential and power of such an approach clarified Khan’s path forward. “My goal now is to work in a situation where I can be a doctor, but I want to be working with genetics as well. Ideally, I’d like to work in pediatric cancer genetics as a PI.”

Realtime Genetics

Upon finishing the program, Khan joined the Bick Lab, a multidisciplinary research group in the division of genetic medicine at Vanderbilt University. Led by Alexander Bick, the lab’s current focus is on the interplay of innate genetic factors and acquired gene mutations in relation to the newly identified condition known as CHIP (clonal haematopoiesis of indeterminate potential). The focus is on how it may contribute to cancer and heart disease.

In his role as a bioinformatics scientist, Khan uses analytical methods like the R programming language and WDL workflows to run bioinformatics applications and pipelines. He also develops bioinformatics tools aimed at finding these mutations.

“Basically, I’m putting everything I learned in the BMI program to use,” he says. “UChicago gave me the foundation and now I’m building upon it. I’m doing things I never imagined I’d ever do. I feel more like a scientist making progress in this vast and challenging new field. The experience is invaluable.”

The most exciting part of the work, he says, is that they are using genetics to work with patients in realtime.

“We have patients who might come in for lupus, or maybe a cousin or one of their parents has a genetic condition they’re concerned they might have,” he says. “We take their blood samples and we sequence them and then we get to work figuring out if anything might be wrong. And then we go back to them and give them advice on what to do moving forward.”

In addition to his bioinformatics work, Khan puts his medical training to use in his new role as well. As part of the clinical group, he also sees patients alongside Dr. Bick, using his medical background to further expand his career trajectory. 

“It doesn’t get any better than this,” he says. “It’s exactly the experience I need to propel myself further. My only regret is not doing it earlier. The BMI program brought everything together for me and ignited my passion for the whole field.”
 

A doctor and nurse analyze a tablet.

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