More than a million Americans have donated genetic information and medical data for research projects. But how that information gets used varies a lot, depending on the philosophy of the organizations that have collected the data.
Some hold the data close, while others are working to make the data as widely and easily available to as many researchers as possible — figuring science will progress faster that way. But scientific leverage can be obstructed by both practical and commercial reasons.
Three major projects in the United States illustrate these differing philosophies.
VA scientists spearhead research on veterans database
The first project involves three-quarters of a million veterans, mostly men over age 60. Every day, 400 to 500 blood samples show up in a modern lab in the basement of the Veterans Affairs hospital in Boston. Luis Selva, the center’s associate director, explains that robots extract DNA from the samples and then the genetic material is sent out for analysis.
The blood samples themselves end up in huge, automated freezers for future use — one in Boston and a backup facility at a VA location in Albuquerque, N.M.
Even at this early stage of the process, the volunteers’ names have been replaced with bar codes. Scientists can still link the DNA findings to the veterans’ medical records, but the entire operation is designed to ensure that no personal information can be deduced from the findings.
Only VA scientists and their collaborators are granted access to the vets’ medical records and genetic information. The studies emphasize health issues of concern to vets “in areas of schizophrenia and bipolar disease, in PTSD, cardiovascular disease, diabetes [and] hypertension.
Intermountain Healthcare teams with deCODE genetics
Our second example involves what is largely an extended family: descendants of settlers in Utah, primarily from the Church of Jesus Christ of Latter-day Saints. This year, Intermountain Healthcare in Utah announced that it was going to sequence the complete DNA of half a million of its patients, resulting in what the health system says will be the world’s largest collection of complete genomes.
“We have families who have been here for three, four, five, six generations,” says Dr. Lincoln Nadauld, executive director of precision medicine and genomics, “and under our care at Intermountain Healthcare, we have taken care of families for multiple generations, so we have health information and health histories on those families and patients.”
Family trees provide a great shortcut for understanding the genetic basis of disease. To mine this information, Intermountain has an exclusive deal with a company in Iceland, deCODE Genetics, which is owned by pharmaceutical giant Amgen. This data set will remain a closely held resource, not available to the broader scientific community.
NIH’s All of Us aims to diversify and democratize research
Our third and final example is an effort by the National Institutes of Health to recruit a million Americans for a long-term study of health, behavior and genetics. Its philosophy sharply contrasts with that of Intermountain Health.
“We do have a very strong goal around diversity, in making sure that the participants in the All of Us research program show the vast diversity of the United States,” says Stephanie Devaney, the program’s deputy director.
The goal is to make the information secure and as accessible as possible, while not putting too many restrictions on how the data can be analyzed. The philosophy is straightforward: The more easily smart people can see the data, the more likely they are to make discoveries that can benefit us all.