We’ve all been hearing for years about how a number of technologies are poised to change the nature of medicine. One of those with the biggest promise is centered on the study of genetics, which is revealing the blueprints behind some of our most intractable diseases. Another, which proponents argue will be a disruptive force to advance preventative medicine, is Big Data—the analysis of massive amounts of information being collected on patients to find clues to detecting and treating disease.
This is not the first article to show that those years of dedication and work by scientists in a number of fields are starting to bear fruits. An article published late last month in the journal Science Translational Medicine reveals some of the latest findings. In it, a team used both genetics and Big Data to link patients’ seemingly unrelated traits with the onset of disease. Their work will one day point doctors to a developing disease before it could have been diagnosed in the past.
“Over the last 10 to 15 years, researchers have been doing lots of genetic studies,” says Dr. Atul Butte, a biomedical informatics researcher and Stanford professor. “These studies are indicating that certain diseases come from certain genes, but also that certain traits can predict a coming disease. Electronic medical records are feeding this, offering more data on patients along with their genome to see what spelling differences in DNA mean.”
Butte and scientists from Mount Sinai School of Medicine, Stanford and Columbia used previous gene research that linked a specific gene variant to a trait, like elevated levels of cholesterol or a certain enzyme, and a disease. They then analyzed electronic medical records to link the early appearance of that trait to a later disease diagnosis. Their effort uncovered five previously unknown associations after combing through as many as 610,000 anonymized patient records per linkage.