In various shapes and forms, the link between biology, clinical science and technology is advancing at a steady pace

Look up the term "bioinformatics" and the definition will most likely be a convoluted series of references to algorithms, databases, artificial intelligence, computation theory, discrete mathematics, signal processing, statistics and a half-dozen other terms for complicated concepts. In essence, it is difficult to explain because there are so many facets to it.

Even those working in the field aren't completely together on what bioinformatics should entail, says Christopher Chute, MD, professor of biomedical informatics at the Mayo Clinic.

"Biology and medicine are in two major camps, with the genomic people dealing in bioinformatics and clinical people dealing in either clinical or medical informatics," he said. "Bioinformatics aspires to be the catch-all for both of those groups, but I prefer biomedical informatics myself because it implies both biology and medicine."

At its core, the term "informatics" refers to the intersection between computer science and healthcare, said Gary Kennedy, CEO of Sandy, Utah-based Remedy Informatics. "Bioinformatics" has become the nom du jour, he said, as the idea of personalized medicine has gained traction in healthcare.

"Everything is bioinformatics now," he said. "Whether genomic or proteomic, it all has to do with your personal circumstances," Kennedy said. "With unique biomarkers, it offers a 360-degree view of the patient and that is where it gets really interesting."

Chute estimates that the bioinformatics concept has been around since the mid-1990s, when genomic and molecular computation came of age. Since then, "it has exploded exponentially," he said.

"The genomic sphere will make what came before look like child's play in the way we think of concepts and biology and improving outcomes."

'Not science fiction'

Advancements in science and information technology have made conquering the new genomic frontier more attainable, Chute said.

"When you look at networking speeds and computing capacities, our ability to process information has been multiplying every year  -  we have a 50-fold capability of information management since I was a child," he said. "When you think about it, caring for patients is 99 percent information and 1 percent intervention, so it's clear that with or without genomics, the paradigm is shifting. Bioinformatics brings a cutting edge capacity to healthcare."

Computer scientist Hank Wu says he is confident the technology for personalized medicine "is already here  -  we just need to combine it coherently and apply it to the healthcare setting."

As director of translational informatics for Remedy Informatics, Wu says he has dedicated his career to personalized medicine and its role in cancer research. With his IT background, Wu thinks about genomics in the same way a CIO does about networks.

"A genome is nothing more than a 3GB file, made up of 30,000 genes," he said. "The goal is to determine what is actionable. In order to do this, we need to break it down into megabytes so it can be analyzed."

Bioinformatics enables the dissection of the genome and its contents so that medical researchers can ascertain each individual's unique makeup. Wu likens it to a series of light switches.

"Each gene is a light switch," he said. "We used to think that one switch operates one light bulb, which represents a disease, eye color or other characteristic. But that has been blown out of the water. It is not just a light switch, but a series of light switches."

Everything related

Just about every IT initiative under way in healthcare is linked in some fashion to bioinformatics, industry analysts say, including meaningful use, electronic health records, accountable care organizations, ICD-10 coding and disease state management.

"The concept of bioinformatics gained a lot of momentum over the past three or four years when it became clear the direction the healthcare industry would go," Kennedy said. "Our company specializes in predictive informatics, which is related to the predictive modeling concept for populations. What differentiates our concept is that we are focused on individuals and how they respond to therapies and drug interactions based on their chemical makeup."

Chute concedes that as a researcher he is always looking 10 years into the future and he anticipates "a second paradigm shift" toward knowledge-enabled records.

"While we're recording information the way we always did, the next phase is to record information in a way the machine can understand and then link it to knowledge resources, decision support and monitoring resources," he said. "Pharmacogenomics is already a reality and that genomic information should be included on pharmaceutical labels. We are already getting more sophisticated  -  dosage changes and drug interaction risks are already very clear to the pharmaceutical world."

Fostering connectivity

Andover, Mass.-based Capsule looks at another aspect of bioinformatics  -  specifically, how biomedical devices can transmit the data they collect from patients to the electronic medical record. Eric Boone, technical adviser for medical device integration solutions, says the company has worked with thousands of providers on their biomedical device integrations and that the process scope is growing due to the proliferation of more sophisticated medical devices.

For instance, just about all critical care equipment has digital capability and data capture, including respiratory, anesthesia, infusion, hemodialysis and incubation. Yet a disconnect exists between data capture and transmission, a situation Capsule is trying to remedy.

"ICU nurses see all this equipment hanging on the wall but don't' understand why they have to type the information into another piece of equipment for documentation," Boone said. "They want the data to go directly from the device to the medical record without any intervention from them."

Ottawa, Ontario-based Therapeutic Monitoring Systems and Andover, Mass.-based Royal Philips Electronics are exploring the integration of ICU cardiopulmonary monitors with clinical decision support software. Following integration, a pilot study will assess the performance of the potential for predicting readiness for the discontinuation of mechanical ventilation.

TMS COO Simon Goulet said the agreement with Philips represents "important validation of our belief that vital sign analytics are key to advancing patient monitoring and care in the ICU."