The Heredigene project is a partnership between Intermountain Healthcare and deCODE, an Icelandic company known for sequencing the DNA of large populations, including over a third of Iceland’s population. The overarching goal of the Heredigene project is to sequence the DNA of 500,000 Intermountain patients and then use this vast amount of data to find genes that play a role in cancer, heart disease, neurological diseases and more.
David Jones, Intermountain’s Chief Scientist, said what makes this project powerful is its size, but what makes it unique is the extensive record-keeping system.
“Because we have excellent medical records that go back on patients for many, many years. And it's not something that all healthcare systems do, or all countries do. And so we have really high quality supportive data for our genetic studies. And I think that's going to allow us to make some important discoveries that other big sequencing efforts will miss,” said Jones.
In other words, you can have DNA from tens of thousands of patients, but if there’s no way to link genes to present or past diagnoses, the ability to make conclusions and find new disease-linked genes is limited.
“If you can't figure out who in your population has lupus, you're not going to discover the gene for lupus. And that depends on how well you have characterized your patient population,” said Jones.
This isn’t the first time such record keeping has put Utah on the map for genetic research. Before the advent of large population sequencing, discovering problematic genes was made by genealogically tracing families that consistently showed certain diseases.
“It attracted geneticist here, because of the genealogy records that are present and available in Utah. And it's those genealogy records that allowed them to put together families combined with disease registries, right. So there was this thing called the cancer registry. And you could say, here are the genealogy records superimposed on everybody that have cancer. And all of a sudden, bam, here's a family and three generations, that all are showing this disease. And so that really drew a bunch of people from all over the world to come to Utah to study genetics,” said Jones.
The Heredigene project continues Utah’s legacy as a hub for genetic research, but instead of focusing on small groups of families the project will use a large number of participants to discover what Jones calls low penetrance genes that would otherwise be difficult to find in small populations.
Since beginning the project 2 years ago, and after only one fifth of their 500,000 target has been reached, they’ve already discovered genes that plays a role in fatty liver disease and others that cause a condition called benign vertigo.
Still, some people are hesitant to enroll due to privacy concerns. According to Jones, all data is confidential and participants can unenroll at any time. He added that while DNA testing is relatively new, it’s likely to be common place in the future.
“I think the day is coming where we all get our genomes sequenced just like we all get our blood pressure measured. So in my mind, although it's a new medical test, it's no different than the hundreds of medical tests that we already run,” said Jones.
Jeanette Bennett, the CEO of Utah Valley Magazine, is a participant in the Heredigene project. She was diagnosed with thyroid cancer in 2020.
“And, and I'm cancer free now. But I'll be having scans and checkups the rest of my life. And, you know, my grandma did die of cancer, and I've had aunts with breast cancer. And so when I realized I could be the tiniest part of this Heredigene project that could help hopefully, my kids and grandkids have an even better experience, and maybe avoid some of the things that that I've experienced, it was a no brainer for me,” said Bennett.
Bennett said the inconvenience of getting blood drawn is small in comparison to the potential impact.
“This is actually a pretty simple thing to do, to be involved. And if you're getting a blood draw anyway, for something else, you can do it right then,” said Bennett.
You can learn more about the project online atheredigene.org.
