Information-Based Medicine: A New Era in Patient Care

by Caroline Kovac, Ph.D.

It was a race to the starting line.

Three years ago, news broke that scientists had successfully decoded the human genome. It was, unquestionably, one of the most significant scientific breakthroughs ever, providing the road map for the scientific community to search for knowledge about life. The metaphor that so appropriately described the triumph was "a race to the starting line." The map of the human genome triggered a race to understand the origins of diseases and how to combat them, as well as how genes and proteins can influence a person's well-being.

Information technology is an important driver in this supercharged race. Only when DNA sequencing could take place fast enough – using powerful computing systems and high-throughput sequencing techniques – was the international scientific community able to decipher the entire human genome. Today, it is virtually impossible to complete most biological research without high-speed computing, storage systems and software to manage large volumes of data and collaboration.

The phenomenal progress researchers are making to understand Severe Acute Respiratory Syndrome (SARS) offers a case study in the convergence of information technology and emerging biology. Scientists at the Michael Smith Genome Sciences Centre in Vancouver recently completed the world's first genetic sequence of the coronavirus believed to be responsible for SARS, just months after the discovery of the new deadly virus. Their research tools included an IBM computing system and high-throughput DNA-sequencing devices.

Future implications for patient care
The bridges between information science and biology are growing stronger every day. The ultimate goal and the most exciting challenge ahead is the improvement of the human condition through better patient care.

The promise is enormous. In the past 80 years, the average human life span in developed countries has risen about 20 years. Much of this increase in life span is the result of scientific breakthroughs in the 1920s and '30s that unlocked infectious diseases and developed antibiotics and vaccines. As a result, infectious diseases have declined dramatically in developed countries, and some infectious diseases have almost disappeared globally.

For example, influenza, pneumonia and tuberculosis no longer top the list of leading causes of death. The top of the list now belongs to heart disease, cancer and stroke, and we are on the brink of discovery about the mechanisms of these diseases. If the next decade of research brings another 20-year leap in human life span, our children and grandchildren may routinely live to their 100s.

The implications of genomic research in medicine are profound. Major medical research institutions, such as the Mayo Clinic and Johns Hopkins University, as well as pharmaceutical and biotechnology companies, including Aventis and deCODE genetics, are undertaking research projects right now. This research focuses on understanding both the basic mechanisms of disease and the likelihood that those mechanisms operate in individual patients.

The era of information-based medicine
These research efforts are catalysts for a new era of medicine, in which doctors will have more information at their fingertips, along with the ability to manage information in new ways, to make better diagnostic and treatment decisions. We call this the era of "information-based medicine."

In the future, through information-based medicine, doctors will be able to diagnose and treat patients as individuals, not as statistics. They also will be able to make better assessments and prescribe better preventive care long before a patient begins to show symptoms. By performing simple diagnostic tests, doctors will be able to rule out drugs likely to have adverse or no effects on their patients and to select only those drugs designed to be most effective with minimal side effects. They also will be able to identify potential clinical trial participants more effectively.

Today, most drugs on the market have been developed using a "one size fits all" approach. Consequently, only one in three patients taking prescribed drugs actually improves. What if appropriate markers could be developed, ideally based on knowledge of mechanisms of action of the drug candidate? Suppose we could identify those patients who will be high responders. And, equally important, what if we could identify patients likely to have severe adverse reactions?

This precision medicine is already beginning to happen. Perhaps the best example is a drug called Herceptin, developed by Genentech to treat women with aggressive breast cancer. It is helping patients who desperately need and can benefit from it – women identified through genetic testing as high responders.

In another area of patient care, the Mayo Clinic is among the pioneers of information-based medicine. The Mayo Clinic, in collaboration with IBM, has archived more than 4 million patient records – data collected from informed, consenting patients – into an advanced data management system. The Mayo Clinic Life Sciences Warehouse can perform complex cross-patient correlations across patient demographics, diagnostics and laboratory results. The system can complete certain types of medical searches that once took months in a matter of minutes. When fully implemented, the system will allow Mayo Clinic to conduct population-based research more quickly on a broad range of diseases and translate those research results into improved patient care.

Another leader in information-based medicine is deCODE genetics, whose work in population genetics is creating a new paradigm for healthcare. deCODE has collected Icelandic population data going back more than 1,000 years. The company is mining this data to isolate key genes and drug targets in nine common diseases, including arthritis, schizophrenia and spinal muscular atrophy.

Researchers at iCAPTURE in Vancouver are investigating links between genetic and environmental influences on the leading causes of death in North America: heart, lung and blood-vessel diseases. Through a collaboration with IBM, this publicly funded research institute is building an information system to help researchers relate genetic susceptibility of patients with cardiovascular and respiratory diseases to environmental influences, such as culture and socioeconomic status, educational backgrounds, inhaled cigarette smoke, pollutants, viruses, allergens, diet and obesity.

As these examples underscore, we are living in an age of unprecedented discovery with the potential to transform our lives in ways we can only begin to imagine. This is just the beginning of the revolution sparked by the convergence of information technology and basic medicine. Through information-based medicine, we have a lot to look forward to, including longer, healthier lives.

SAS and IBM: A working relationship
IBM and SAS have recently entered into a three-year strategic alliance agreement to deliver comprehensive information technology solutions to life-sciences companies. This agreement will enable the two companies to bring together complementary technologies and services to help life-sciences companies solve challenges ranging from drug discovery and expedited processing of clinical trial information to product commercialization and customer relationship management.