Genetic pioneer calls for one-time disease risk test for all

Everyone’s disease risk should be measured once in their lifetime in the future, British genetic pioneer Peter Donnelly said, according to ERR. The Oxford University statistics professor and founder of Genomics Ltd said genetic information could help identify people with a substantially higher predisposition to disease.

Millions of genetic variants can influence the development of disease. By analysing each person’s genetic profile, doctors can calculate their individual predisposition, Donnelly said. Disease risks among people of the same age can differ by dozens of times.

“Diseases are very costly to the economy. Economist Andrew Scott showed that if we could reduce the burden of disease by 20 percent, it would increase gross domestic product growth by 1.5 percent,” Donnelly said.

For the United Kingdom, this would mean an increase of £44 billion in GDP over 10 years, he said.

Achieving this would require medicine to shift its focus from treating diseases to preventing them. Donnelly said the change would benefit governments and healthcare systems, which cannot continually train more doctors or provide new medicines. Individuals would also benefit by living longer and healthier lives through earlier prevention.

“Because of genetic risk, some people have a 40 times greater probability of developing a disease than others,” Donnelly said.

Polygenic risk scores

Polygenic risk scores, or PRS, offer a new way to prevent diseases more effectively. They take into account a person’s gene alleles, the different forms of their genes, and use this information to estimate their inherited risk of developing various diseases.

Speaking recently at a gene forum in Tartu, Donnelly said people of the same age and sex could have disease risks that differed by several dozen times. He said the ideal future would involve identifying people at higher risk earlier than is currently possible.

“Higher risk does not mean that you will definitely become ill. But because of genetic risk, some people have a 40 times greater probability of developing a disease than others,” he said.

The development of PRS technology has been driven by the recognition that specific genes, alongside lifestyle factors, contribute to the development of disease. Heart disease, for example, has been extensively studied, and millions of genetic variations are known to raise or lower the risk of developing it.

“The risk from an individual gene is small, but together these risks add up. With PRS, we can now measure this overall risk, and it turns out to be a fairly accurate prediction,” Donnelly said.

A PRS is not a diagnosis, because a genetic risk may never become actual disease. However, Donnelly said inherited risk is the most important risk factor for most diseases.

He said PRS results should be considered together with a person’s other health data, although the score alone can also be highly informative. For many diseases, including types of cancer, knowing a person’s PRS can predict disease almost as accurately as knowing all other risk factors, he said.