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Personalized Medicine: The Future is Almost Here

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In the decade since the human genome was first sequenced, we have been on a journey of applying this new discovery to create personalized medicine.

Published in: Health & Medicine
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Personalized Medicine: The Future is Almost Here

  1. 1. Personalized Medicine: The Future is Almost Here Hannes Smarason Genome Sequencing |Personalized Medicine | Transforming Health Care
  2. 2. It’s been more than a decade since the human genome was first sequenced. Since then, we have been on the journey of applying this profound new discovery to create personalized medicine and advance human health.
  3. 3. The Rapid Pace of Genome Discovery • Two significant triumphs along this human genome journey: – Using genomic data to better understand diseases; and – Achieving low-cost genome sequencing. • Each of these accomplishments has been a stepping stone into the exciting new era that is dawning now: where genomic information is becoming integrated into medical care.
  4. 4. Using Genomic Data to Better Understand Diseases Let’s take a look back at the early days of using genomic data to connect the dots between genetic mutations and disease. • From 1997-2004, I was part of the leadership team at deCODE, the Icelandic genomic company, which was building the world’s most productive human genomics platform. • The company developed a database of tens of thousands of individuals who participated in genetic studies, including the largest database of genomes to this day. • deCODE’s genomic engine successfully identified the genetic variations associated with human disease, resulting in dozens of groundbreaking discoveries that were published in major, peer-reviewed journals.
  5. 5. Using Genomic Data to Better Understand Diseases • The legacy of deCODE was the creation of an industrialized platform capable of massive storage and analysis capabilities enabling researchers to crunch genomic data and gain insights about genetic variants associated with many common diseases. • deCODE’s premise was that once the genetics of disease was better understood, that information could be used to create new ways to diagnose, treat and prevent disease. • When I left deCODE in 2004, there were still barriers to overcome before this genomic information could be widely applied to the level of an individual patient. Chief among them was that the cost of genome sequencing was still prohibitively high.
  6. 6. Low-Cost Genome Sequencing • Back in 2004, the cost to sequence a single human genome was hundreds of thousands of dollars. • Today that cost is around a thousand dollars for a whole genome sequence. • DNA sequencing costs continue to fall, as speed and accuracy increase. • We are rapidly approaching a tipping point where, as the sequencing of human genomes becomes more economical, its adoption in the medical community becomes more widespread and genomic data can become more routine in medical care. This is why personalized medicine is becoming a reality.
  7. 7. Sequencing in Medical Care • The steep drop in the costs of sequencing, combined with the explosion of research on gene variants and disease, mean genome sequencing will soon become routine in medical care. • Soon a patient sample can be taken to perform a genome sequencing to analyze the genetic characteristics of a patient to determine ways a disease can be prevented or, if they are sick, which treatments might work best for their disease. • The body of genomic knowledge and the large databank of human genomes built by pioneers like deCODE enable genome sequencing to have predictive power for individual patients. • As more human genomes are sequenced and more genetic variants are associated with disease, personalized medicine will become an essential part of medical care.
  8. 8. Sequencing Implementation • Major medical centers in the U.S., Europe and Asia are actively beginning to install DNA sequencers and supercomputers to integrate sequencing into medical care. • These centers are taking steps toward the routine sequencing of every patient’s genome to define the ideal treatment based on a patient’s genes. • Evidence of this adoption of genome sequencing by medical centers appeared in an article in The New York Times in April 2013 citing that: – Medical centers in New York City are spending more than $1 billion on new genomic research centers; – Several U.S. hospitals are undertaking systematic genome sequencing in patients; – Mount Sinai Medical Center has a program in which 24,000 patients participate in a biobank to include their DNA sequence and research over their lifetimes; – Memorial Sloan-Kettering Cancer Center sequenced 16,000 tumors from cancer patients in 2012; and – Phoenix Children’s Hospital opened a new institute in December 2012 to sequence the genomes of 30 percent of their childhood cancer patients.
  9. 9. Genome sequencing will soon become part of the nucleus of medical care. This will herald a new era in personalized medicine revolutionizing healthcare as we know it and transforming our lives. When do you think genome sequencing will become a part of the medical decisions in your life?

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