Most of us know BMI as body mass index.
But, for medical researchers, it represents the evolving world of “biomedical informatics,” which is transforming science before our eyes.
The American Medical Informatics Association, the premier organization focused on biomedical informatics, defines it as the use of biomedical data, information and knowledge to understand science, solve problems and make decisions, to improve human health.
Simply put, it’s using computers to make sense of the mountains of data generated by a myriad of medical tests and research.
It connects computer science, medicine, biology and health care, and creates a synergy that goes beyond anything that researchers in any single domain can provide.
The domain encompasses three major sub-fields: clinical, biology and public health. It can move basic research findings from bench to bedside, evaluate interventions across communities and assess the impact of health innovations on health policy. In short, it translates numbers into solutions.
To understand how overwhelming this data can be, it’s important to first understand the complexity of the human DNA.
Human DNA, the code of life, is made up of four chemicals, A, G, C and T, and consists of about three billion bases — more than 99 percent of those bases are the same in all people and link to make 23 pairs of chromosomes.
The Human Genome Project estimates that humans have between 20,000 and 25,000 genes. Every person has two copies of each gene, one inherited from each parent.
The first time a genome was sequenced, it took hundreds of scientists 13 years and $3 billion to complete. Now, the same thing can be achieved in two days for about $5,000 using UNMC’s Illumina 2500 sequencer, the most robust sequencer in the world. A team of people and an extremely powerful computer would now require two days to analyze the data.
Consider this — in the course of your lifetime, you will generate massive amounts of medical data from medical records, genetic tests, X-rays images, CAT scans, MRIs and tissue samples — all of which is being digitized and takes an enormous amount of computer space.
A slide that contains a single slice of tissue equals 1 terabyte of data — that’s 1,000 billion pieces of data.
Now, magnify that by the tens of thousands of patients seen each year in one hospital, the hundreds of thousands of operations performed and the 350 million people in the United States who seek medical care.
For comparison, Wal-Mart, a retail giant, handles more than one million customer transactions every hour, feeding databases estimated at more than 2.5 petabytes — the equivalent of 167 times the books in the United States Library of Congress (1,000 terabytes equals 1 petabyte).
Twenty years from now all patient medical records will be in digital form to allow researchers and physicians to cross reference disease risks and preventive treatments and expand their ability to use the patient’s DNA to customize treatment.
Along the way, we must find ways to manage the mountains of data. Enter a new breed of computer scientists who understand computer science and program analysis, can translate a researcher’s hypothesis into algorithms and knows how much a geopbyte (a one followed by 30 zeroes) is.
With the help of genetics, math and data computation, researchers can look for patterns in diseases and treatments that help physicians tailor treatments to individual patients and also safeguard populations.
Researchers can compare DNA profiles of thousands of people to find candidate genes and then use prediction algorithms of known protein interactions to identify new interactions between proteins previously thought unknown to each other.
The science of biomedical informatics is about investigators who can make those connections from all that data in the electronic health records, the human genome or across several genomes, between proteins and public health documents.
These stories will begin to demonstrate how informatics has become integral to medical research and ultimately, clinical care.