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Experiencing Potential of Precision Medicine

courtesy of Bill Elder
Wright State University student Bill Elder, who lives with Cystic Fibrosis, was invited to attend the State of the Union address and President Obama's kick off for the Precision Medicine initiative.

At the State of the Union Address this past January, President Obama introduced a new effort to advance something he called Precision Medicine:

“I want the country that eliminated polio and mapped the human genome to lead a new era of medicine -- one that delivers the right treatment at the right time... So tonight, I'm launching a new Precision Medicine Initiative to bring us closer to curing diseases like cancer and diabetes -- and to give all of us access to the personalized information we need to keep ourselves and our families healthier.”

Community Voices producer Scott Grigsby takes a look at what precision medicine is, its promise, and how it has already changed the life of one young man in the Miami Valley.

Medicine today is mostly practiced by following a guideline… have a headache, try aspirin, didn’t work? Try Tylenol. Worse, you have cancer? Try this treatment…didn’t work? Try something else instead… But what if a simple test could show which treatment works best for your particular headache or your specific cancer. This is the promise of Precision Medicine.

Credit Scott Grigsby
Dr. Madhavi Kadakia, Chair of the Department of Biochemistry and Molecular Biology at Wright State University

“Precision medicine or personalized medicine is basically catering the treatment of a patient based on [his or her] genetic make-up,” says Dr. Madhavi Kadakia, Chair of the Department of Biochemistry and Molecular Biology at Wright State University. Her work focuses on the technologies that help make precision medicine possible.

In her lab at Wright State is a new state-of-the-art genome sequencing machine. “[The machine] is where the actual sequencing occurs,” she says, “and then we have a lot of little accessories because when you extract the RNA or DNA it has to go through a lot of different steps and different machines before you can actually get the material ready to sequence.”

The genome is the key to precision medicine because a genome is like a book listing an organism’s complete set of DNA. Sequencing a genome is like reading the book one letter at a time to look for spelling mistakes. When the Human Genome project began in 1990, it took 13 years and $2.7B to sequence the first human genome. Now, it can be done in a few days for less than $2,000. It’s innovation like this that is behind the President’s push to accelerate Precision Medicine.

“There is so much excitement with the researchers who are already engaged in these activities and pursuing this initiative,” says Kadakia, “It has to be individual therapy, that’s going to be more effective in the end and that’s clear to everybody.”

This is particularly clear to one young man in the Miami Valley. Bill Elder is a third year medical student at Wright State University who was diagnosed with Cystic Fibrosis when he was 8 years old. Cystic Fibrosis or CF is an inherited disease that clogs the lungs with thick mucus encouraging chronic infections. When Bill was diagnosed his life expectancy was just 27 years. But Bill turned 27 last year, and he’s never been healthier. Genetic sequencing allowed Bill’s doctors to pinpoint his defect. Then, in 2012 Vertex Pharmaceuticals started testing a new drug, now called Kalydeco, that targets this defect.

As soon as Bill heard about the drug trial from his Doctor, he got involved.

“After I took my first dose,” says Elder, “I noticed a dramatic change that evening. I sat in my room for quite a while trying to pinpoint what it was that was different because something seemed a bit off… and I realized what it was: I was easily breathing in and out of my nose for the first time and I’d never really been able to do that before. So, of course, I was staying with my parents at their house at the time and I sprinted down the hallway and knocked on their door and said ‘Kalydeco is working! Kalydeco is working!’ and from that moment everyone was just ecstatic.”

Credit courtesy of Bill Elder
Surgeon General Dr. Vivek Murthy with Bill Elder during Elder's visit to the White House

In July 2013, Bill testified before Congress as part of an effort to fast track Kalydeco. Then this winter he got an invitation to attend the State of the Union and the President’s news conference to kick off the initiative.

“I had no idea that the President was going to mention me at all in his speech,” laughed Elder, “When he started to say, you know, ‘and we have Bill Elder here in the audience’ I’m sure I turned as red as a beet… That, that was, that was pretty cool…”

But Precision Medicine does have a price, and in the case of Kalydeco, that price is steep. Estimates put the cost at $300,000 per patient per year. With that in mind, the President’s new initiative will not only address the technological and social challenges of Precision Medicine but also seek to reduce the costs - with the hope that, maybe soon, there will be more people given a new future like Bill Elder.

“I haven’t had any major CF exacerbations at all since I have been taking this medication,” he says, “So it’s enabled me to stay healthy throughout medical school, it’s really made my dream of becoming a doctor possible and I finally think that I’ll be able to live long enough to be a grandfather.”