Polygenic Scores: A New Way to Measure Risk for Heart Disease, Diabetes

  • A team of researchers uncovered a new approach to measuring genetic variations that add up to cause thousands of diseases in the body.
  • The researchers hope that the findings would make the younger generation aware of their health risks.
  • If the new measuring system is adopted by physicians, the scores can be vital in deciding on care and treatment.

By simply reanalyzing raw data from people after sending cheek swabs to companies like 23andMe, a Boston-based research team was able to develop a computerized system to calculate a person’s inherited risks for the worst common form of heart disease and four other serious disorders.

The researchers hope that the new discovery would help young people buy enough time to get help if they are aware of their risks of getting heart attacks.

“What I foresee is in five years, each person will know its risk number, this ‘polygenic risk score’, similar to the way each person knows his or her cholesterol “  reported by team leader  Dr. Sekar Kathiresan from the Broad Institute of Massachusetts General Hospital and Harvard School.

If the new measuring system turns out well and is adopted by doctors, the scores will be a vital piece of information in deciding on care and treatment. For one, low-risk scores “doesn’t give you a free pass” nor does it say you are getting the disease, said Kathiresan. Rather, it simply means that your genetic makeup increases your risks.

The team tested the system by trawling through 400,000 medical and DNA records in Britain’s UK Biobank and found that 1% of people with the lowest risk scores were diagnosed with coronary heart disease compared to the 11% of people with the highest risk score.

Kathiresan also advised that changes in lifestyle such as no smoking, diet, cholesterol medication and exercise will help lower these risks.

Increased risks in Type 2 diabetes, inflammatory bowel disease, breast cancer and atrial fibrillation or irregular heartbeat can also be predicted by the scoring system, according to the study that was reported in the Nature Genetics journal.

As part of continuing research, Kathiresan and Mass Gen cardiologist and co-author Dr. Amit Khera co-patented the application of the system, in the hopes of setting up a website where people can send their data to learn their heart risks.  Myriad Genetics Company has also started selling a polygenic type of test for breast cancer risk.

“The results should be eye-opening for cardiologists,” said Dr. Charles C. Hong, director of cardiovascular research at the University of Maryland, School of Medicine.

One limitation though, he said, is that the score applies only to those with European ancestry, and wonders how scores would be like among the non-white population.

Source: NBC News


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