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article imageIndividual genetic profiles reveal disease predictions

By Tim Sandle     Aug 21, 2018 in Science
The risk of developing a genetic disease is connected with small changes in many different genes. New analysis reveals how tiny genetic changes can predict which people are most at risk.
Scientists are closer to understanding how small genetic changes can be assessed in order to predict who among the general population is at an elevated risk of developing diseases such as type 2 diabetes or coronary artery disease. Another disease for which predictions might be possible based on genetic profiling include breast cancer.
The new developing comes from researchers working at the Broad Institute of MIT and Harvard, Massachusetts General Hospital together with Harvard Medical School. The development is a different type of genetic test.
Here millions of different places throughout the human genome have been catalogued into to characterize an individual’s risk in relation to five different diseases. The researchers gathered data from large-scale genome-wide association studies to identify genetic variants associated with each disease.
The test can provide the basis to predict if a person is more or less likely to develop a disease ahead of any symptoms appearing. This will allow medics to prevent some of the identified illnesses from occurring, or at least by people making lifestyle modifications.
This process is based on whole-genome sequencing together with special algorithms which are used to construct a polygenic risk score. A prediction based on the general database suggests that millions of people around the world are at a high risk for some types of illnesses. As an example, with the U.K., around eight percent of the population are at a risk from a heart attack when compared with the average population.
This process is shown in the following video:
According to lead researcher Sekar Kathiresan, who told Laboratory Roots “Now, we’re able to measure that risk using genomic data in a meaningful way. From a public health perspective, we need to identify these higher-risk segments of the population so we can provide appropriate care.”
The research has been published in the journal Nature Genetics. The research paper is titled “Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations.”
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