The largest single-population genome study in the world is now underway, seeking to detect, prevent and treat serious diseases like cancer and heart disease.
The study is under the direction of Intermountain Healthcare and any U.S. citizen 18 years of age and older may enroll at HerediGene.org.
Bryce Moulton, senior director for clinical research at Intermountain Precision Genomics, said one of the study’s goals is to discover ways of preventing some diseases altogether.
“But we also hope to identify what we call biomarkers, gene mutations that are known disease causing,” Moulton explained, “and we can identify potential drug targets for those and develop new drugs or new treatments coming from this particular study.”
Moulton said if the original blood test reveals a condition the patient may be carrying, it calls for a critical confirmatory test.
“What that means is that patients are contacted and told that we may have found something, but we would like to confirm that before we report that back to you,” he added. “So at that point in time patients are given the opportunity to provide another sample.
“This can be done through just a saliva sample instead. And that’s processed and if we ultimately confirm the original variance or results that we found, then patients are contacted.”
Moulton said the plan is that HerediCare will study the genes of 500,000 volunteers by 2024 to help scientists discover new information to improve healthcare for future generations.