Making Medicine More Precise

Informatics plays a key role in the promising advances of precision medicine.

So much of our daily lives is becoming personalized due to data — from the ads you see online to the coupons you get in the mail. The field of healthcare is no different. Thanks to advances in DNA sequencing, experts in precision medicine can zero in on the individual genetic variations that influence disease development and treatment responses.

This innovative approach is on the cusp of profoundly changing medicine. “The potential impact is revolutionary,” says David H. Perlmutter, MD, executive vice chancellor for medical affairs and dean of the Washington University School of Medicine in St. Louis. “Precision medicine has the potential to better define many types of diseases, improve clinical trials and increase the effectiveness of targeted treatments.”

Dr. Perlmutter points to the example of inflammatory bowel diseases. “We’ve taught for decades and decades that there are two types, ulcerative colitis and Crohn’s disease,” he says. “Well, we know that there are 200 genes in which sequence variants are linked to one of those two disease. So now we’re saying that this could be viewed as two diseases, or 200 diseases.”

Connecting the Dots

But before precision medicine realizes its fullest potential, a challenge remains — making sense of a growing volume of medical and research data. DNA sequencing generates millions of data points for a single individual. At the same time, years of clinical trials have resulted in massive amounts of treatment and outcome information, and the growth in electronic medical records adds even more complexity. To combine all of this information and extract meaningful, actionable interpretations, researchers are relying more and more on the burgeoning field of informatics, which uses computer science methods to find patterns in large, complex data sets.

“Informatics is essential to figuring out how we connect the dots between those thousands and millions of data points, contextualize them with the best available information, and then deliver them back to clinicians who may have only 5 or 10 minutes with a patient to interpret and act on that information,” says Philip R.O. Payne, PhD, director of the Institute for Informatics at Washington University.

As data becomes more voluminous, comprehensive and high quality in nature, explains Dr. Payne, “the granularity of our ability to deliver precision medicine increases in kind.”

In fact, informatics experts already have become indispensable in managing large amounts of information in the research setting, says Herbert Virgin, MD, PhD, Edward Mallinckrodt professor and chair of pathology and immunology at the School of Medicine. “In my lab, we have bioinformaticians who are an integral part of our team,” he says. “In my department, we increasingly have faculty members who are computationally oriented, because that’s such a critically important part of our future.”

Enabling Data-Driven Clinical Decisions

Informatics must not only aggregate data from a number of different sources — genomics, proteomics and metabolomics, for example — but also make it comprehensible, says Jeffrey Milbrandt, MD, PhD, James S. McDonnell professor and head of genetics, and professor of pathology and immunology, medicine and neurology at Washington University.

“We have to assimilate all of the information in a way that can be visualized and understood by a doctor,” says Dr. Milbrandt, who, along with Dr. Virgin, works with the medical school’s Genomic and Pathology Services, which provides clinicians with treatment suggestions based on gene mutation analyses. “We need to be able to put it in a context that will allow doctors to make a decision.”

The goal is to make clinical practice less instinct- and intuition-oriented and more data driven, Dr. Payne says. He emphasizes the importance of designing technology so it fits within the workflow and decision-making process of clinicians. “That’s where the nontechnical dimensions of the field are so important,” he says. “How do we in fact deliver this information in such a way that it’s not intimidating and is well integrated with existing workflow — so that it is not disruptive?”

With the cross-disciplinary nature of informatics, its practitioners are positioned to meet these and other challenges. “Informatics sits at the intersection of technology and the social and humanistic sciences,” Dr. Payne says. “Getting high-quality, complete data that informs precision medicine requires a systems approach. Informaticians are the systems scientists who understand how to deploy computational technology in a systems manner in health care.”

“Precision medicine has the potential to better define many types of diseases, improve clinical trials and increase the effectiveness of targeted treatments.”