We know that genes can tell a lot about a person, from the color of their eyes to their risk of certain diseases.
Over the past ten years, scientists have been trying to use genetic information to calculate how likely a person is to get a disease. They do this by creating something called a “polygenic score”.
But, there has been a problem. These scores have mostly been created using genetic information from people of European descent.
That means they don’t work as well for people with different backgrounds.
A Big Leap Forward
Good news! A team of researchers from the Broad Institute of MIT and Harvard and Massachusetts General Hospital (MGH) have developed a new method that improves these scores for everyone, no matter their background.
They tested this new method by trying to predict the risk of heart disease. This is the leading cause of death around the world, so it’s a big deal.
How the New Score Was Built
The researchers used data from over a million people to build their new score. They didn’t just use genetic data linked to heart disease.
They also included data on ten related health factors like blood pressure and body mass index (BMI).
The result? Their new score was better than all previous ones at predicting the risk of heart disease. It worked well for people of African, European, Hispanic, and South Asian backgrounds.
The Power of Early Prediction
One of the researchers, Amit V. Khera, explained why this is so important. He said that this new score can identify a person’s risk of heart disease early in life.
That’s because our genes don’t change as we age, so they can be tested at any time, even at birth.
This means doctors could identify high-risk individuals sooner. They could then suggest treatments like medications or lifestyle changes to reduce the risk.
Pradeep Natarajan, another researcher on the team, highlighted the importance of using large, diverse datasets to better identify people at high risk.
A Closer Look at the Method
To create their new score, the team collected data from more than a million people. They included nearly 270,000 people with heart disease.
That’s a lot more people than they used in their previous study back in 2018.
The team didn’t stop there. They also included data from more diverse groups of people, including African, Hispanic, and South Asian populations.
This helped to improve the score’s accuracy for people with different ancestries.
The Score in Action
The researchers put their new score to the test with a different set of data. They found it was better at identifying people at the highest and lowest risk of heart disease.
Those with the lowest scores had less than a 1% chance of getting heart disease by middle age. But those with the highest scores had a 16% chance.
What’s even more surprising is that they were able to identify 3% of people who had not been diagnosed with heart disease but were at high risk based on their genes alone.
The researchers are not done. They are continuing to refine their method and improve their scores. They’re using even bigger datasets and better calculations.
They’re also looking at how they can integrate these scores into regular medical care.
Khera pointed out that this is just the beginning. He believes these genetic tests will continue to improve in the future.
He also mentioned that more work is needed to figure out how to use these tests in regular medical practice. But he’s optimistic that one day these genetic scores could become a standard part of healthcare.
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