Researchers used patients’ emergency contacts and electronic health records to create family trees for genetic studies.
Who is your emergency contact? The answer to that question, standard in every doctor’s office, has now been used to predict the role of genes in hundreds of conditions, from diabetes to high cholesterol. A new study combined the emergency contact information of 2 million New Yorkers with their medical data to form family trees of heritability—all without ever looking at a patient’s DNA. The approach could be used by clinics widely to predict a person’s disease risks, if patients agree to let their data be used in this way.
“It’s an interesting idea that you can generate family structures across very large data sets” compiled by health care providers “and infer something about the shared basis of disease,” says cardiovascular disease genetics researcher Dan Roden of Vanderbilt University in Nashville, who was not involved with the study.
Hoping to explore the genetics of drug reactions, graduate student Fernanda Polubriaginof and others working in the lab of biomedical informatics researcher Nicholas Tatonetti at Columbia University wanted to determine whether patients at the school’s affiliated NewYork-Presbyterian Hospital were related. “It occurred to us there’s some data that every hospital routinely collects every time a person is admitted,” Tatonetti says: an emergency contact, who also often happens to be a blood relative.
His team pulled those contacts from electronic health records of patients who had given consent to use their information in research. To the scientists’ surprise, about one-third of the emergency contacts had also come to Columbia’s hospital for treatment. They then used the names, addresses, phone numbers, and relationships of these contacts to build 223,000 family trees connecting blood relatives. The biggest had more than 100 patients spread across four generations, Polubriaginof says.
The Columbia team and collaborators at the city’s Weill Cornell Medicine and Mount Sinai health systems also constructed family trees from thir records, bringing the total to 1.9 million patients with 7.4 million relationships. The patients were a diverse mix including Latinos, blacks, and whites.
The researchers then overlaid those trees with information on each individual’s health conditions, gleaned from billing codes and lab tests, and used the combined data to estimate the heritability of about 500 traits and diseases. For many conditions, such as glaucoma,