Intermountain Healthcare is building a new global DNA database based on electronic health histories from people around the world, which the research community will use to determine who might be at risk for developing genetic diseases.
The GeneRosity Registry, which is funded by the Intermountain Research and Medical Foundation, is attempting to leverage existing genetic test results from adult consumers who have already purchased commercial testing services such as AncestryDNA, MyHeritage and 23andMe.
The goal is to convince consumers to voluntarily upload their raw and unprocessed genetic data to the registry’s website, as well as provide a detailed personal and family medical history that includes information from three generations of relatives, such as children, brothers and sisters, parents, grandparents, aunts, uncles, nieces, nephews and cousins.
“There have been 6 million individuals that have gotten direct-to-consumer testing,” says Stacey Knight, a cardiovascular and genetic epidemiologist at the Intermountain Medical Center Heart Institute. “If we can get those genetic results, and combine it with personal and family health histories, then we’re able to jumpstart a lot of research.”
According to Knight, personal and family medical histories can identify people with a higher-than-usual chance of having common disorders such as heart disease, high blood pressure, stroke, certain cancers and diabetes.
“These complex disorders are influenced by a combination of genetic factors, environmental conditions and lifestyle choices,” she adds, noting that 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. “We need hundreds of thousands of individuals to contribute their data so we can look at a range of diseases, particularly as we look at some of the rarer genetic causes for diseases.”
Knight emphasizes that all of the information gathered from participants will be stored in a secure database that can only be accessed by researchers involved in the registry.
“They can voluntarily upload their genetic results—it’s all done online through a secure website,” she contends. “The data will be encrypted, the access will be restricted and all the analyses will be done on a de-identified dataset.”
For those participants in the registry who are Intermountain patients and agree to volunteer their information, Knight says their medical histories will be accessed from the healthcare organization’s Cerner electronic health record system and data warehouse.
Intermountain is getting the word out about the registry at the RootsTech 2018 conference, an event at which people use technology to discover and share their family connections across generations, which is being held this week in Salt Lake City.
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