Precision medicine requires inclusive research
To pinpoint genomic drivers of disease, research must include a much broader cross-section of the population.
The widespread use of precision medicine to offer individualize care depends on discovering thousands of genomic drivers of disease. And that requires genetic research based on a broad cross-section of the population.
Most of genetic data that has been collected so far, however, has been from individuals with Northern European ancestry.
“We have failed in addressing disparities in genetic studies,” says Dermot McGovern, M.D., Ph.D., director of the Precision Health Initiative, Cedars-Sinai Health System in Los Angeles. “If we are going to bring the benefits of genomic medicine to all sections of society, then we need the underlying science to reflect all the populations in society.”
Personalized Medicine at Northshore University Health
A variety of efforts are underway to correct this data disparity. For instance, McGovern points to large studies underway in African American, Hispanic and Asian populations, including some at Cedars-Sinai.
Intermountain Health aims to help in these efforts by sharing the methods it’s developed to enroll individuals in its HerediGene genome study program.
“Our goal is to export the know-how to conduct these kinds of massive studies to other areas of the country and the world so we can begin to be more inclusive in the data collected,” says David Jones, Ph.D., chief scientist, Intermountain Health, Salt Lake City.
Intermountain's Heredigene Project Video
The cost factor
Another equity issue is the cost of genetic tests. Insurers often do not cover these tests, and many patients may not be able to afford the expense.
Some health systems that partner with population genomics company Helix, including Renown Health and HealthPartners, cover the cost of the genetic testing in anticipation of long-term benefits.
“Our health systems view this as the right thing to do for patients,” says James Lu, M.D., Ph.D., CEO and cofounder at Helix. “There is also strong evidence that, over time, precision medicine improves care outcomes and lowers total costs of care.”
Data privacy concerns
In addition to concerns about making sure research is based on a diverse population, another critical issue is reassuring patients that their data will remain private.
“Like any new technology, people are scared of it,” Jones says.
Some patients fear that health insurers or employers may discriminate against them if a genetic test identifies them as being at risk for a hereditary disease.
Healthcare organizations can help counter these worries by educating patients about the federal law, Genetic Information Nondiscrimination Act, which prohibits such discrimination, as well as the HIPAA Privacy Rule, which governs record privacy.
More patients will be willing to share their genomic data once they see the benefit, says Peter Hulick, M.D., medical director at the Mark R. Neaman Center for Personalized Medicine at NorthShore University HealthSystem in Evanston, Ill. “The onus is on us to show that we’re using the data to benefit patients’ health. The more we can do that, the more patients will be willing to share their data to make their lives healthier.”
This content is is part of a series of articles and related material highlighting the people, processes, and technologies currently advancing Genomics and Precision Medicine. See related content