“If we can figure out other examples like that we can design safer drugs for patients,” he said, adding that would help create specialized medications for smaller groups.
What has hindered work in this area, he said, is the lack of a large data set containing multiple generations of detailed medical histories. Most heritability research, so far, has relied on studies of twins and specialized research looking at families that share a particular disease, like schizophrenia. Genetic research has also been limited regarding race.
“The majority of research on disease heritability has been done in Caucasians of mostly northern European descent,” said Fernanda Polubriaginof, a graduate student in biomedical informatics at Columbia University and the study’s lead author. The electronic medical records from the New York hospitals were far more diverse.
She and her colleagues didn’t know if emergency contacts could fill these gaps, but they decided to try by building an algorithm and then comparing their estimates of how likely it was that traits were inherited to existing research.
First they whittled down the records, looking for cases where the people named as emergency contacts had been patients at the same institution. Then they grabbed diagnostic codes and information such as height, body mass index and blood serum levels from lab reports and bills; the research consent form most of us sign at the doctor’s office allows this.
They knew there were numerous reasons that connections in their data set might not be biologically related. To create a statistical model, they compared a subset against 1,500 patients that had also consented to providing DNA.
The team was pleased to find that height, obesity, diabetes, acne and sickle cell anemia all came out within a few percentage points of more traditional research studies. The data set also offered potential heritability data for about 400 items that had not previously been examined this way, including sinus infections, tooth decay, irregular menstruation and thyroid disorders. And Dr. Tatonetti was surprised to learn during the research that runny noses are highly heritable — a trait confirmed by his data set.