Looking at
the genetic mutations of racial and ethnic minorities could advance precision
medicine and reduce health disparities.
By Jessica
Kent
June 20, 2019 - Precision
medicine could hold the key to more targeted, personalized care delivery,
better outcomes, and diminished health disparities, but in order to turn these
visions into reality, researchers have to study genetic mutations in diverse
populations.
That’s the key
finding from a recent study published in the journal Nature.
In one of the largest
genetic studies of Hispanics and Latinos, African Americans, Asians, and other
minorities, a team from Rutgers University examined genetic variants in nearly
50,000 people of non-European descent.
They studied
mutations spanning the genome and tested for contributions to traits spanning
eight major categories, including inflammation, lipids, lifestyle, glycemic,
cardiovascular, blood pressure, body measurements, and kidney-related factors.
The findings revealed
that a genetic mutation linked to blood sugar levels occurs in one percent of
Hispanic/Latino people and about six percent of African Americans, but the
mutation is rare in people of European descent.
This information is
important for providers to know, because patients with the mutation may have
blood tests that lead physicians to falsely conclude that a patient’s glucose
levels are under control.
Studies like these
are necessary to develop effective treatments of debilitating diseases,
researchers noted.
“In light of the
differential genetic architecture that is known to exist between populations,
bias in representation can exacerbate existing disease and healthcare
disparities,” the group said.
“Critical variants
may be missed if they have a low frequency or are completely absent in European
populations, especially as the field shifts its attention towards rare
variants, which are more likely to be population-specific.”
Most genome-wide
studies have been comprised of white people of European ancestry, the team
said, but scientists have shown that the genetic mutations that contribute to
chronic diseases may not be the same in all ethnicities.
This study adds a new
layer to research that highlights the pervasiveness of certain conditions in
minorities. For example, the CDC reports that hypertension is most
prevalent in black males, and that black individuals are twice as likely as
whites to die from uncontrolled hypertension.
The organization also
notes that Native Americans are more likely to have type 2 diabetes than any other
racial group in the US.
Major players in the
healthcare space have recognized this problem, including CMS. In 2016, the
federal agency launched the Mapping Medicare Disparities (MMD)
tool, a public dataset that shows providers the varying levels of disease
prevalence among different races and ethnicities.
“We want local
providers to understand the issues facing their service areas, and we want to
give them the opportunity to drill down into some of the factors related to
their work that may need improvement,” said Cara V. James, PhD, Director of
the CMS Office of Minority Health.
“As we continue to
link socioeconomic factors to clinical care, we will be able to rethink how to
address these relationships.”
The findings from the
Rutgers study will further demonstrate the disparities in health and disease
among minorities.
“Our study confirmed
that the apparent effects of the same genetic variant often vary across populations,” said Steve Buyske, a senior author
and an associate professor in the Department of Statistics at Rutgers–New
Brunswick. “A genetic variant with a big effect in people of European descent
may have a smaller effect in other populations, and vice versa.”
The Rutgers study was
conducted as part of the federally funded Population Architecture using Genomics and Epidemiology (PAGE)
project, currently in its second phase. The first phase examined genetic
variants among approximately 100,000 African Americans, Asians, European
Americans, Native Americans, and Hispanic Americans. Using two phenotyping
approaches, researchers studied genome associations with common diseases.
The second phase of
the project will build on these efforts by focusing genotyping analysis
exclusively on non-Europeans, helping to better characterize how genetic
factors influence disease susceptibility.
With these new
results, researchers hope to bring to light the lack of diverse populations in
genetic research, and further advance precision medicine treatments.
“The promise of
precision medicine that improves health will not be achieved with studies based
solely on people of primarily European ancestry,” said Tara Matise, a
senior author and professor who chairs the Department of Genetics in
the School of Arts and Sciences at Rutgers University – New
Brunswick.
“We need more
diversity in genetic studies and better scientific methods and awareness of how
to handle that diversity.”
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