Arlene Weintraub | Aug 13, 2018
12:50pm
If physicians could
predict which of their patients are more likely to develop serious diseases
like breast cancer, type 2 diabetes and coronary artery disease, they could
offer personalized preventive care that’s only minimally available today.
Scientists at the Broad Institute of MIT and Harvard say they’ve developed a
genomic screening tool that can predict the risk not only of those three
diseases, but also of atrial fibrillation and inflammatory bowel disease.
"We've known for
long time that there are people out there at high risk for disease based just
on their overall genetic variation," Sekar Kathiresan, director of the
cardiovascular disease initiative at the Broad Institute, said in a statement.
"From a public health perspective, we need to identify these higher-risk
segments of the population so we can provide appropriate care."
The Broad team worked
with researchers at Massachusetts General Hospital (MGH), and Harvard Medical
School to develop a method for scoring disease risk based on data previously
generated about the five conditions and gene mutations that contribute to them.
For each disease, they used an algorithm to combine all the contributing gene
variants into a single risk score, according to the statement. Then
they took genomic data from more than 400,000 people that are stored in the
U.K. Biobank and used the algorithms to predict each person’s risk of
developing those diseases.
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The technique, called
“polygenic risk scoring,” uncovered 8% of participants in the U.K. Biobank who
were more than three times as likely to develop coronary artery disease as everyone
else in the registry, according to the statement. It also found that 1.5% of
people in the biobank had triple the risk of breast cancer. The research was
published in Nature Genetics.
Co-author Amit Khera,
an MGH cardiologist, noted that many of the people found to be facing an
elevated risk of heart disease didn’t have any other warning signs, such as
high cholesterol. "If they came into my clinical practice, I wouldn't be
able to pick them out as high risk with our standard metrics,” he said.
There are millions of
gene variants that have been tied to serious illnesses, prompting efforts to
match genetic abnormalities with disease risk—and to develop easy-to-use tools
clinicians might someday employ in everyday practice. In June, a team led by the
London-based Institute of Cancer Research, for example, announced it had identified 63 new gene mutations that
raise the risk of prostate cancer, which the team believes can be combined with
100 previously identified variants to identify men who are six times more
likely than the general population to develop the disease.
MGH’s Khera believes
the ability to pinpoint patients facing the highest risk of developing serious
diseases will help physicians target screening programs for early detection and
treatments more effectively. But first, the polygenic risk scores for the five
conditions in the Broad-led study would need to be optimized to include more
ethnic groups, because the polygenic risk scores were developed based largely
on people of European ancestry, the researchers say.
Still, the data
generated from the U.K. biobank suggest that millions more people around the
world face a high chance of developing serious diseases—and they may not be
aware of that risk. For example, they say, their data suggest that up to 25
million Americans face triple the normal risk of coronary artery disease.
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