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Precision Medicine: A Personal Journey for Answers

Summary: 
Whether or not a treatment for my condition is found, I’m excited about this journey.

I’m a nurse and a patient—and I’m tired of hearing from my doctors that although they know what’s wrong with me, they don’t have many ideas for how to fix it. I was having continuing problems with a gastrointestinal (GI) bleed, and when my doctors suggested a risky procedure as a Hail Mary, I finally asked: “What’s the evidence for it?”

That’s why I’m excited about the Precision Medicine Initiative (PMI), announced by President Obama earlier this year. The core of the initiative is a plan to recruit a 1 million national research group of people, known as a cohort, to provide genetic, environmental and lifestyle data. Researchers will be able to use the data collected to make diagnoses and develop treatments that target individuals’ personal conditions.

Whether or not a treatment for my condition is found, I’m excited about this journey.

My health complications began in the spring of 2014 when I fainted during a business trip in Denver. I thought I had altitude sickness. But it turned out I was extremely anemic, a complication from a gastric bypass that I had done a few years earlier. I became a frequent patient at hospitals and ERs because of a slow GI bleed that the doctors couldn’t find. I went on and off iron infusions by IV and oral medications and I had multiple endoscopies, colonoscopies, blood tests and transfusions, but they still didn’t know what was really wrong with me and could never find the source of the bleeding —all they could do was hope to stop it.

I didn’t want to become that cranky patient, but I began asking more questions; I started looking up research and bringing the papers to my doctors. And when they proposed a potentially life-threatening procedure on the possibility it might help, I asked, “What’s the evidence for it? What’s the data on its success?” The number of patients who had gone through the procedure after having GI bleeds numbered 10—and one of those patients died.

I know medical diagnosis is partly an art, partly intuition. But it’s disconcerting when your doctors just don’t know what’s wrong. I got tired of hearing “we don’t know.”

While PMI is a journey into the unknown, it’s a vital one if we’re going to improve our understanding of what treatments will work for people in the real world, not just in clinical trials.

Just recently, National Institutes of Health Director Francis Collins accepted the recommendations of the PMI Working Group, which included a framework for building the 1-million participant cohort.

What’s particularly exciting to me is that the recommendations call for empowering participants by giving them access to their study results, along with combined results from all participants—and the tools to make sense of it

The cohort will be built through many sources, including allowing any person living in the United States to voluntarily enroll and contribute their personal data to the base.

I would like to be part of the cohort, part of the journey, part of the discourse. For so long, things have been done to us, rather than with us. Now as a nurse and a patient, I feel even more strongly that understanding a patient’s experience and perceptions is how we have to go.

I don’t know if there will be answers for me, but I’m very hopeful about opening up the discussion and starting the journey toward truly personalized medicine.

You can find more information about the President’s Precision Medicine Initiative here and learn more about the 1-million person cohort here.

#PrecisionMedicine: A personal journey for answers for Jamie → http://1.usa.gov/1LLLZi5 via @HHSgov

 

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