With a sophisticated new algorithm, scientists have found a way to forecast an individual’s risks for five deadly diseases.
Scientists have created a powerful new tool to calculate a person’s inherited risks for heart disease, breast cancer and three other serious conditions.
By surveying changes in DNA at 6.6 million places in the human genome, investigators at the Broad Institute and Harvard University were able to identify many more people at risk than do the usual genetic tests, which take into account very few genes.
Of 100 heart attack patients, for example, the standard methods will identify two who have a single genetic mutation that place them at increased risk. But the new tool will find 20 of them, the scientists reported on Monday in the journal Nature Genetics.
The researchers are now building a website that will allow anyone to upload genetic data from a company like 23andMe or Ancestry.com. Users will receive risk scores for heart disease, breast cancer, Type 2 diabetes, chronic inflammatory bowel disease and atrial fibrillation.
People will not be charged for their scores.
The study began because there was general agreement among researchers that many common diseases are linked not to one mutation, but rather to thousands or millions of mutations, said the first author of the new paper, Dr. Amit V. Khera, a cardiologist at Massachusetts General Hospital and a researcher at the Broad Institute.
In recent years, scientists have cataloged more than 6 million tiny changes in DNA that slightly affect the chances that people will get various diseases.
Each of those genetic alterations has such a small effect — a 1 percent or so increase or decrease in a person’s odds of getting a disease — that it would not be helpful to test for each one in isolation.
But it should be possible, scientists felt, to combine data on all the small DNA changes to construct an individual risk score. To do that, the researchers needed a new algorithm that would weigh the significance of the variations in the genes.
Then they had to test the risk scores they obtained. Dr. Khera and his colleagues turned to the U.K. Biobank, which holds genetic and disease information on half a million people.
The investigators found that their algorithm did predict the odds of being diagnosed with one of the five diseases. But the U.K. Biobank consists mostly of white Europeans.
So the investigators also tested and validated their method in populations of East Asians, South Asians, African Americans and Hispanics.
The researchers also tried their algorithm on 20,000 patients who were seen at Brigham and Women’s Hospital and Massachusetts General Hospital.
They found that those who had a high risk score for a heart attack were indeed four times more likely to have had a heart attack than other patients.









