Intermountain Healthcare wants to tap powerful medical secrets that might be hidden in your DNA, even if you’re not a patient.
The Utah-based health care provider is building something called the GeneRosity Registry, which company officials say could one day be a global research database linking genetic data, Intermountain medical-history records and family health information.
Intermountain is asking people to voluntarily donate their genetic profiles purchased from direct-to-consumer DNA testing sites, such as AncestryDNA, MyHeritage and 23andMe, said Stacey Knight, a genetic epidemiologist at Intermountain’s Heart Institute.
“It’s sort of a crowdsourcing approach to doing genetic research,” Knight said in an interview.
The burgeoning personal DNA testing industry has seen some 12 million people pay for genetic information that can reveal unknown branches of family trees, where their ancestors lived or, in some cases, risks of genetic disease — a trend Knight said also has the potential to offer a massive trove of personal DNA data for medical researchers.
Intermountain, a nonprofit network of hospitals that is the largest health care provider in the Intermountain West, says it wants to use the database to develop better disease-prevention strategies and treatments.
Knight said she realized genetic results from consumer sites could be useful for research purposes after she recently paid for her own.
Questions on privacy
But the project also raises privacy questions, which Knight said were natural, particularly in light of recent developments involving use of DNA in the Golden State Killer case. Detectives uploaded a raw genetic profile to the commercial DNA and genealogy site GEDMatch — and used family information it generated to track down a criminal suspect.
Those considering donating to GeneRosity, Knight said, should not be concerned that something similar could happen.
Access to Intermountain’s system, Knight said, will be limited to only a few medical researchers. Law enforcement officials would need a court order to obtain anything in it, she said, and donors giving their genetic profiles won’t be privy to any personal connections between their data and anything else.
“We’re not sharing the links between anyone that uploads data,” Knight said.
She said it was possible the GeneRosity would be combined with other data in the future in medical investigation, and that access to the Intermountain registry might be granted to outside researchers — but such moves would require explicit consent from genetic profile donors, Knight said, and rigorous peer review beforehand.
Nonetheless, some of the direct-to-customer DNA testing companies involved struck a note of caution about Intermountain’s project.
In a statement, AncestryDNA spokeswoman Melissa Garrett said the Lehi-based company was not affiliated with the GeneRosity project and urged its customers to be cautious when sharing their genetic profiles with any outside groups.
She said her company has a “basic belief that you should always maintain ownership and control of your own data,” though it is “ultimately up to you to determine how you’d like to use it and to whom you provide access.”
“Raw DNA data is not intended to be used for medical or health purposes,” Garrett added, “and some of the individual markers within the data have not been validated for diagnostic accuracy.”
23andMe spokeswoman Christine Pai also said the company was not involved in the Intermountain project, nor is it endorsed by her company.
She cautioned that the type of raw genetic data that would be provided for the Intermountain project “is not scrutinized to the level of our vetted data” but that customers “own their own raw genetic data and are free to do what they want with it.”
Knight said she shares the concerns raised by the DNA testing companies. She said data in the GeneRosity Registry is stored in a secure research database, with access restricted to only a few Intermountain investigators.
Any identifying information, including names and dates of birth, she said, will be stripped off the records when researchers begin to analyze the data in the coming years.
“There’s always the risk of inadvertent release of data, anytime you do a research study, anytime there’s data involved in any aspect of your life,” Knight said. “People do ask about that, but I know [the GeneRosity Registry is] secured in such a fashion that it’s a minimal risk.”
The researcher also said she recognized individual profiles of raw genetic data could contain inaccuracies. That’s why Intermountain hopes to compile thousands of personal genomes, Knight said, to statistically weed out many of those errors.
She said federal law prohibits using such genetic data in relation to a patient’s health insurance, and Intermountain would not provide the data to any insurance companies, including life insurance firms.
Power in numbers
Experts from the hospital chain’s Heart Institute launched the registry earlier this year at RootsTech, the family history and technology conference sponsored by the genealogy arm of The Church of Jesus Christ of Latter-day Saints and held in Salt Lake City. The effort is being paid for through donations to the Intermountain Research Foundation.
Populating the database to a point where it’s useful is expected to take time. Knight said about 100 people have turned over their DNA information and family history thus far through an online submission process. Participants don’t receive any compensation or a direct medical benefit from donating their data, hence the “generosity” name.
Researchers will need tens of thousands before they can study common diseases, said Knight, and likely hundreds of thousands before they can unveil any new insights about rarer genetic conditions.
Ultimately, the registry could help identify with increasing precision which genetic profiles may predispose people to specific diseases, Knight said. Or researchers might use it to determine how common newly discovered disease-causing genetic markers are in the general population.
“A person’s DNA is made up of more than 3 billion individual pairs of genetic codes, but finding specific genes that contribute to health problems isn’t easy,” Knight said when the registry was launched. “That’s why we’re asking people to submit their DNA results, along with as much personal and family medical history as they know.”
Jeff Anderson, an Intermountain research and clinical physician, and his wife were among the first contributors to the database. They recently paid for AncestryDNA tests — which require submitting a saliva sample — and quickly learned the results offered vast amounts of raw data beyond what was useful to customers buying the tests.
“We have this tremendous amount of information that’s not being used,” Anderson said, adding it only made sense to donate it to researchers to “see if they can figure anything out.”
Competing for genomes
Other groups are also asking people to turn over their consumer genetic information for research, including a Columbia University project called DNA.Land — which has so far collected nearly 100,000 genotypes — as well as a Nevada hospital system collecting genetic information from solely its own patients, Knight said.
And there are other third-party companies, including Promethease, that ask you to upload the same raw genetic data — but with the promise of reanalyzing it for more information about diet or disease risks.
“Tens of millions of people will soon have access to their genomes,” Yaniv Erlich, of Columbia University and the New York Genome Center, told The Atlantic in 2015. “Are we just going to let these data sit in silos, or can we partner with these large communities to enable some really large science? That’s why we developed DNA.Land.”
Knight said Intermountain’s database will go beyond the other similar projects by asking for information on participants’ family health histories and linking in Intermountain medical records for donors who also are patients in the system.
GeneRosity Registry also differs from the Utah Population Database at the University of Utah, a collection of millions of records that include family-history data from the LDS Church, along with health records and other public information pools such as driver license data.
That database — the largest of its kind in the world — is used for research into genetic diseases, but Knight said it does not include the extra layer of raw consumer DNA data being collected by the GeneRosity Registry.