Much has changed in the last 20 years in understanding how an individual's DNA predicts common diseases, according to Sir Peter Donnelly, who cofounded in 2014 the company Genomics, of which he is CEO, in Oxford, England.
Until a couple of years ago, Donnelly said, if he had the entire DNA sequence of a healthy 40-year-old, his chances of finding something actionable would be about 1%. This is because most rare diseases, which are caused by a single change in the DNA, become apparent before a person turns 40. If someone got to the age 40 and was still healthy, usually there wasn't much left to discover, he said.
Today, getting that same information from a healthy 40–year-old would reveal actionable insights 70% of the time, due to the ability to measure genetic risk for such diseases as heart disease, Donnelly said.
"We can identify people who are at risk for heart disease long before symptoms arise. The huge potential for genomics and the work we're doing is about using that power of genetics to identify the risks for each of us in order that we can take the right actions but also so our health system can," Donnelly said. "If this gets adopted more widely, in 20 or 30 years time, there will be millions of people alive who wouldn't be alive."
For more, including Donnelly's views on when genomic testing will become routine, please listen to his conversation with Susan Morse, executive editor, Healthcare Finance News.
Talking Points:
- The Rhodes Scholar was knighted by Queen Elizabeth II for the work he's done and continues to do in genomics.
- He founded Genomics because the science was progressing but awareness of the effect genomics can have on people's lives and healthcare was lacking.
- His company Genomics is currently working with the National Health Service in the United Kingdom on Our Future Health, a research project that is recruiting 5 million people for genetic testing and is providing risk scores.
- In the United States, Genomics has a program with a life insurer to provide genome testing, as insurers and policyholders realize it's in both of their best interests to help members live longer.
- Long-term, genomics saves money for health systems.
- Genomics helps pharmaceutical companies find the next generation of drug targets.
- Genome testing need only be done once.
- The price out-of-pocket is comparable to that of an Apple Watch.
- All people are at risk for diseases, we just don't know which ones. The surprise is that family history is not very well correlated to the genetic component.
- In 5 to 10 years time, Donnelly expects genetic testing will be routine.
More About this Episode:
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Proving the value of genomics in healthcare
AI is transformative around research
AI-driven precision healthcare is here – what you need to know
Direct-to-patient platform uses AI to find gaps in care
Email the writer: SMorse@himss.org