Season 1 - Episode 7

The Genome Files: How #bigdata Tailors Treatment

The Genome Files: How #bigdata Tailors Treatment
Learning the ways vast pools of DNA and EHR data can cast light on a single person or disease.

Health care tends to lag when it comes to embracing technology. Yaa Kumah-Crystal, M.D., and innovators like her, are trying to change that.

These innovators are actively working to change perception and to engage technology in ways that balance the necessity of maintaining rigorous safety compliance and ease of use. It’s a herculean quest that includes toppling long-standing perceptions that tech is a burden — and not intuitive — as well as demonstrating the value it brings to both the provider and the patient.

On this episode, explore:

  • how physician-scientists are dreaming up ways to make tech a participant, not a burden

  • the ways vast pools of DNA and EHR data can cast light on a single person or disease

  • an ‘historic’ initiative that’s tackling an ambitious goal to improve health and life for everyone.

‘Technology is really just an extension of our own creativity.’

Kumah-Crystal want providers to start thinking of the computer and new technology as a virtual assistant in the room with them, sharing the responsibility for providing patient care. (12:00)

This vision was integral to the sprint to rollout telehealth access enterprise wide  at the start of the COVID-19 pandemic when nearly all non-emergent care ground to a halt.

“Technology is really just an extension of our own creativity, and being able to say, wow, I can envision a world where that technology is helping us do A, B and C,” said Kumah-Crystal, a pediatric endocrinologist and professor of biomedical informatics who is developing the next generation of electronic health records — a system that is voice-activated. She’s a champion of bringing natural language processing into medicine. (22:05)

“I think that’s such an interesting concept, if we start thinking about computers as participants in the patient’s care,” Kumah-Crystal said. “For so long they’ve been relegated to (being) machines that, again, we have this, like, adversarial reaction to and that take away from what we’re able to do. But if we actually leverage their ability to give us the information we need exactly when we need it, then we’re not spending so much time digging into the computer and digging into its files. If it can actually be elevated — to escalate and to promote the items that makes sense and will help you take care of the patient better, then it really can be a participant.” (12:10)

Biomedical Informatics is clearly named badly, right?’

To the patient, health care is high tech with gadgets and machines. Yet, the future of health care — what’s commonly known as precision medicine or personalized medicine — escalates the possibilities of tailored care to levels mostly found in science fiction.

It begins with a single data point — an individual piece of information that connects to billions of others, helping inform the decisions made by medical professionals. That single data point is harnessed alongside  billions of others by various mechanisms that loosely fall under the catch phrase “big data.” The science of refining, connecting and parsing nearly endless lines of data is part of the aim of biomedical informatics.

Kevin Johnson, M.D, is VUMC’s Informatician-in-Chief and chair of the Department of Biomedical Informatics — one of the largest in the country. As technology seeps its way deeper into our daily lives, the ability for patients and care providers to have vital information right at their fingertips is both an expectation and a challenge.

“So biomedical informatics is clearly named badly, right? It means a lot for those of us who know what the field is,” Johnson said. “But for everybody else, it’s a lot of words, none of them are words you ever use around the kitchen table. But biomedical informatics essentially is the field that relates to information, how we store it, how we retrieve it, and how we use it for discovery, for clinical care and for decision making. And that’s kind of the big, big definition. But when I talk to people at home, I try to convince my parents that I am still a doctor. I either say that it’s the field that connects the dots between data and health care. Or I’ll say occasionally that it’s a field that kind of is comprised of thinking about information, health care and change. And if you bring all those things together, there has to be an expert who understands how to make change happen with data, and information. And that’s what biomedical informatics is really all about.” (2:30)

‘An Historic Effort’ to Better Understand Our Future Selves

Josh Denny, M.D., now the CEO of the National Institute of Health’s All of Us Research Program, talks about the monumental initiative to gather data from at least one million people living in the U.S, allowing researchers to make new discoveries to advance precision medicine.

“A million, you know, is the biggest such study, and no other study is anywhere near the diversity we have,” Denny said. “So it is an incredible accomplishment. … The paradox of precision medicine, to really treating the individual, as well as you can — you need lots of individuals. Because, you know, you can’t understand individual variation, unless you have the context of a broad population.” (00:01)

The All of Us program is prioritizing diversity — a flaw in past programs. The goal is to improve health by studying individual differences in lifestyle, environment and biology, as well as DNA, said Denny, who prior to moving to the NIH was professor of Biomedical Informatics and Medicine and led the All of Us Data and Research Center at VUMC. (15:00)

“You know, if you look at what genetic research has been done, so far, most of those studies have been done from smaller research cohorts, or they are not very diverse in the population,” Denny said. “We have really understudied, for instance, diversity (and) most of the research studies that have been done look at particular diseases, and characteristics of diseases, not the entirety of what happens on an individual’s journey through life. All of Us is really designed to be comprehensive … so that we will understand the really the robustness and diversity of our population and really be able to treat everyone better.” (17:40)

“The All of Us research program is really an historic effort to recruit a million or more individuals who will partner with us across the United States to share health information, bio samples, including their DNA, so that we can improve health and prevent disease, and understand how better to use medications for ourselves, and future selves.” (15:50)

Articles featuring Dr. Kevin Johnson:

Hear more insights from Dr. Kevin Johnson on his original podcast about newsworthy topics in biomedical informatics, Informatics in the Round.

HIStalk Interviews Kevin Johnson, MD, Chief Informatics Officer, Vanderbilt University Medical Center

Leading EHR System Adopts Bundle to Prevent ICU Delirium

Diversifying the Pathway into Biomedical Informatics

Johnson named to NIH Council of Councils

Health Informatics for a Changing World

Articles and podcasts featuring Dr. Yaa Kumah-Crystal:

At Vanderbilt, Electronic Health Records Are Beginning To Talk Back

Can EHR Voice Assistance in Healthcare Put Focus Back on Patients?

TedxNashville: Surprising Ways Computers Can Rehumanize Healthcare

Southern Medical Association’s Business of Medicine podcast: VEVA (Vanderbilt EHR Voice Assistant)

The Big Unlock: Voice technology will enhance care delivery from within the EHR

Articles featuring Dr. Josh Denny and the All of Us program:

All of Us program launches cloud-based research platform

VUMC to receive $71.6 million from NIH for Precision Medicine Initiative Cohort Program

New Milestones in Massive All of Us Collaborative

Building a platform: All of Us campaign

HLA Variation and Autoimmune Diseases: Insights from a Phenome-wide Association Study

Share This