Utah’s largest healthcare system is on the hunt for half a million DNA samples.
This week, Intermountain Healthcare began asking its patients, most of whom live in Utah and Idaho, to volunteer two vials of blood — enough to fill 2.5 teaspoons. Researchers plan to sequence and study these 500,000 samples — along with patients’ health histories — over the next five years, in hopes of better understanding the genetic basis of diseases.
“We anticpate that by combining those datasets, we will make discoveries,” says Lincoln Nadauld, Intermountain’s Chief of Precision Health and Genomics, a division that uses DNA to diagnose and treat patients. “For example, we might find that patients with certain genetic signatures, or that harbor certain genes, are more prone to early heart attacks or stroke or neurodegenerative disorders.”
The ambitious initiative, called the HerediGene: Population Study, has been billed as the largest study of a single region’s DNA in U.S. history. For the past year, the National Institutes of Health has undertaken a similar project, sequencing the genomes of one million Americans to glean insight on the connection between genes and health outcomes.
Nadauld says the genome sequencing, free to those who enroll, will alert Utahns if they’re carrying dangerous mutations like the breast cancer-causing BRCA mutation. Nadauld says the health system has identified 59 genes “that have been validated and confirmed as conferring a risk for disease.”
“Anybody who has a variant in one of those will receive a report,” says Nadauld, noting this will likely be about 3 percent of participants.
To carry out the study, Intermountain is partnering with deCODE genetics, an Icelandic biopharmaceutical company which has reportedly collected data on the genotypes of half of Iceland’s adult-age population.
DeCODE will be responsible for much of the sequencing and analysis of the genomes. Before getting sent to Reykjavik, where the company’s based, Nadauld says the blood tubes and health records will be de-identified to protect patients’ privacy.