NEJM AI Grand Rounds

Dr. Euan Ashley on AI, Genomics, and Cardiology

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Dec 15, 2022
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ANECDOTE

First Clinical Genome Interpretation

  • In 2010, Dr. Ashley's team did the first clinical interpretation of a human genome, sparked by a colleague's genetic data revealing heart disease risk.
  • This experience highlighted the need for interpreting vast genomic data in a clinical setting, leading to a collaborative effort and a Lancet publication.
INSIGHT

Genome Interpretation Challenges

  • Genome interpretation remains fundamentally similar since 2010, focusing on rare variants, common diseases, and pharmacogenomics.
  • Advances in computing, sequencing, and population data now enable more powerful and accurate interpretations.
ANECDOTE

Fastest Genomic Diagnosis

  • Dr. Ashley's team achieved the fastest genomic diagnosis using nanopore sequencing, earning a Guinness World Record.
  • The major bottleneck was the computational speed, solved by optimizing algorithms and cloud computing.
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