The HerediGene: Population Study is considered the largest and most comprehensive DNA mapping project to date in the United States, according to Utah-based Intermountain Healthcare. The study will examine volunteer participants from Intermountain’s patient population, who are mostly from Utah and Idaho.
The study is said to leverage Intermountain’s competencies with precision medicine and clinical care with the Iceland-based deCODE genetics, a subsidiary of Amgen.
Lincoln Nadauld, MD, PhD, chief of precision health for Intermountain Healthcare, explains that the research findings are expected to have a global impact relating to the understanding of medications and treatments. “The collaboration is noteworthy and unique in its size, scope, and immediate application to patient care.”
Volunteer study participants can receive a genetic profiling report following the identification of a clinically significant gene mutation. While study designers created safeguards to protect the anonymity of all study participants, its overall goals, officials say, are to understand the human genome better and enhance healthcare professionals’ abilities to “predict and prevent diseases such as breast cancer, colon cancer, and heart disease.”
“This unique collaboration is expected to uncover new insights into some of society’s most debilitating diseases,” says Kari Stefansson, MD, DrMed, founder, and chief executive officer of deCODE genetics. “Our partnership with Intermountain Healthcare is important as we continue to identify and validate human disease targets. These potential discoveries will allow deCODE and Amgen to develop new medications that reach the right disease targets.”
Precision medicine helps evaluate genetics, environment, and lifestyle to target illnesses and identify the best possible treatments.
Amber Trivedi, MS, CGC, chief innovation officer, InformedDNA, adds, “For executives of large, integrated health systems, the collaboration between Intermountain Healthcare and deCODE points to the need to keep precision medicine partnerships top of mind in an era of innovation and disruption. It’s clear that a population health approach to genetic research is gaining momentum. Large, population-based studies such as this will yield increased data to support precision medicine efforts. This will make decision making around the clinical utility of genetic testing and therapies easier.”
It will also provide additional insight into costs of testing and treatments, and long-term health outcomes, she says.
The goals of precision medicine extend far beyond oncology, she adds, and it’s essential for healthcare leaders to understand precision medicine’s scope and investment to gain a “greater understanding of disease as well as targeted approaches to treatment.”
When it comes to projects like this, Trivedi says, “collaboration with payers is essential in ensuring these patients get the care that they need when they are transitioned out of the research protocol into long-term management of a genetic condition under a traditional healthcare model.
“This initiative has the potential to provide better predictive information around what genetic variance really means—especially for healthy individuals,” Trivedi adds. “It opens the door for increased understanding of how genetics and environment work together to impact health. It also puts the healthcare industry one step closer to population genetic screening, which could make genetic testing more meaningful and actionable for a larger proportion of the population,” she says.
As healthcare looks to genetic research to improve population health, these studies will seek to examine a broader sampling of the population.
“This provides a more complete picture of the impact of mild genetic variances, Trivedi adds. “It also enables researchers to move accurately calculate the risk of developing symptoms of disease in the general population.”
Consider that individuals who inherit mutations of BRCA1 or BRCA2 gene have an increased risk of developing breast cancer. “Interventions and improved outcomes have been proven with families with a history of cancer,” Trivedi says. The increasing access to direct-to-consumer genetic testing and panel testing is identifying people with the mutation and no family history of cancer.
“With a population health approach to genetic testing, we’re able to study both healthy and sick individuals and understand the significance between genetics and environment in determining an individual’s risk for disease,” she says.