Power of Personalized Polygenic Risk Scores to Predict and Prevent Diseases with Professor Sir Peter Donnelly Genomics plc TRANSCRIPT

Empowered Patient Podcast

Professor Sir Peter Donnelly, Founder and CEO of Genomics plc, aims to use cutting-edge polygenic risk scores to identify inherited DNA mutations and genetic predispositions that could lead to common diseases. In partnership with the MassMutual life insurance company, Genomics offers a voluntary test that provides personalized risk measures and advice about conversations with clinicians. If the policyholder stays healthy longer, the insurance company will get paid more premiums before paying out to survivors. Win-win all the way around.

Peter explains, "Until a few years ago, if I had the entire DNA sequence from a 40-year-old who’s currently healthy, I’d have learned something interesting and medically actionable in maybe 1% or 2% of cases. That’s because genetics has played into medicine through diseases where there’s a single change in our DNA, called a mutation, which often stops a crucial gene from working. Think cystic fibrosis or Huntington’s disease. Those are conditions that are individually serious. They’re rare individually, thankfully, and actually, they’re collectively rare. And so until a few years ago, and now still very much the case, genetic testing was about looking for those needles in haystacks, those one or two single places that caused a problem."

"Now, if I have genetic information from a 40-year-old who’s healthy, I learn something medically useful in about 70% of cases. So, that massive change from 2% to 70% is because we can now measure the genetic component of risk for all of the common diseases, as I said, for heart disease, diabetes, breast cancer, or prostate cancer."

"What we’ve learned is that for any one of those diseases, if we take heart disease as an example, there’s not one gene that matters for heart disease. There aren’t two genes. There are a million or more places in our DNA individual positions in our DNA, which affect someone’s risk of heart disease. And we’ve now got large enough data sets and clever enough algorithms to measure those places and combine the information to get an overall summary for someone of their genetic predisposition to heart disease."

#Genomics #Genetics #PRS #PolygenicRiskScores #DrugDiscovery #Biopharma

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