The Age of Personalized Medicine Celebrates the 10th Anniversary of the Human Genome Project


On June 26, 2000, Francis Collins and J. Craig Venter announced the completion of the draft sequence of the human genome. Although it would be another three years until the project was complete, the event was nothing short of history-making, and has been foundational in the pursuit of personalized medicine.  This year marks the 10th anniversary of that landmark achievement, and indeed there is much to celebrate. And while remarkable achievements have ensued, the promised revolution in our understanding and approach to treating disease is still just beginning.

At the White House event where Dr. Collins and Dr. Venter made their announcement, then President Bill Clinton made bold predictions of its import. “Genome science will have a real impact on all our lives—and even more, on the lives of our children. It will revolutionize the diagnosis, prevention, and treatment of most, if not all, human diseases.”

Today, the list of targeted therapies and treatments is growing, and over 200 product labels recommend genetic testing or point to the influence of genetic variation on drug response or safety. All of these discoveries have been guided by an ever-increasing understanding of the molecular underpinnings of disease and the genetic predisposition of the patients they affect.

The Human Genome Project required an investment of over $3 billion and 13 years to complete. Today, enabled by innovation in high-speed sequencing technology, the $1000 genome appears to be within reach. With these advances, genomic sequencing has made its way out of the lab and into the hands of clinicians and consumers. Genetic tests are available to guide treatment decisions in the clinic for drugs like Selzentry® (maraviroc) for the treatment of HIV and Tarceva® (erlotinib) for the treatment of lung cancer, and direct-to-consumer genetic tests that can provide information about an individual’s predisposition for some health conditions are also on the rise. As these tests become increasingly available, we must work to ensure that they are scientifically grounded, and that they are supported by the appropriate policy and regulatory framework to govern them and protect patient interests.

These examples are the tip of the iceberg when it comes to the accomplishments, challenges, and opportunities that have succeeded the Human Genome Project.  In the coming weeks, leaders and visionaries from across the personalized medicine landscape will share their perspectives on the impact of the Human Genome Project, and how it continues to reverberate in our efforts to align policy, science, and clinical care to enable personalized medicine.

I invite you to join in the discussion. As the conversation unfolds this month, please share your thoughts about where the Human Genome Project has brought us, and the path that lies ahead.

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