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    Global Genetic-Based Database Ramps Up

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    With the ever-changing healthcare landscape, there is a need to better treat patients while still being mindful of ways to decrease the overall cost of healthcare. An individual’s genetic make-up and family health histories could enable more precise treatment for patients.

    Intermountain Healthcare is looking to fill this void by creating a new global DNA registry based on medical histories from people around the world, which researchers can use to find genetic codes that determine who's at risk of developing genetic health problems and help them quickly and economically.

    KnightKnight

    “This precision medicine approach may also provide a framework by which we can decrease overall costs,” says Stacey Knight, PhD, MStat, cardiovascular and genetic epidemiologist at the Intermountain Medical Center Heart Institute, who is overseeing the registry project. 

    The not-for-profit healthcare system, located in Salt Lake City, has started a genetic-based research registry using existing raw DNA results from participants that have already done direct-to-consumer DNA testing—such as from Ancestry, 23andMe, or My Heritage. Participants are asked to voluntarily upload their raw and unprocessed genetic results, or genotypes onto the registry website, GeneRosityRegistry.org, and to provide personal and family health histories.

    Researchers are hoping to reach a wide audience to start the conversation about what benefits sharing existing results can have currently for patients, but also for future generations. Study funding was provided by donors to the Intermountain Research and Medical Foundation.

    “The study is conducted completely online,” says Knight. “The participants will not receive any individual results back. The benefit will be for future patients as we gain more knowledge about the genetics associated with diseases and the treatment of diseases. Because of the lack of personal benefit, we have named this registry the GeneRosity Registry.”

    The link between genetics and disease

    The aim of this registry is to combine genetic data with personal and family health histories to determine the associations between genetics and disease, to evaluate possible genetic profiles that contribute to disease response, and to establish a resource to help validate genetic findings, says Knight.

    A family medical history 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, according to Knight. “These complex disorders are influenced by a combination of genetic factors, environmental conditions, and lifestyle choices,” she says.

    However, searching through genetic codes is time consuming and requires a lot of information from many people. The data collected for this project will allow researchers who participate in the registry to search more specifically for genetic markers related to what they're studying.

    According to Knight, there have been more than 11 million individuals that have purchased direct-to-consumer DNA testing.

    “This includes several of the investigators involved in the registry,” she says. “The idea for this registry was born from a discussion of these investigators. They, like several individuals that have purchased direct-to-consumer DNA testing, were left with asking ‘now what?’ after they received their report from the companies. They realized that the raw DNA results when combined with personal and family medical histories could be used for genetic association studies and would provide a registry to pull from for future genetic studies. Thus, this registry could help answer for them and other the ‘now what?’ question. It provided individuals with the ability to use their data to help further medical research.”

    This registry is not restricted to a specific targeted population or disease, says Knight. “This is to be a global registry that captures genetic and medical histories for diverse populations with diverse sets of diseases,” she says.

    Although Knight says Intermountain Healthcare is not the first healthcare organization to look at collecting direct-to-consumer DNA results, but it “might be the first one to approach this on a global level,” she says.


     

     

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