Happy birthday, Human Genome

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Credit: Flickr/Will Clayton

Ten years ago, on 14 April 2003, the National Institutes of Health unveiled the three-billion-letter code that serves as the blueprint for the human body. The Human Genome Project took 13 years and three billion dollars to complete, but the payoffs have been huge — and the most exciting discoveries are likely yet to come.

Scientific Advances

  • Plummeting Prices. It cost $1 billion to sequence a genome when the Human Genome Project began in 1990. These days it typically costs less than $5000 and experts predict prices will soon drop to $1000 per genome or lower.
  • Understanding Variation. In October 2012, scientists on the 1000 Genomes Project announced they had sequenced nearly 1100 genomes in just three years. The data will help scientists to uncover how individual genetic differences influence a person’s susceptibility to disease.
  • Human Evolution. Scientists have sequenced the genomes of more than 100 other organisms. By comparing our genome to those, we can learn more about human evolution and what sets us apart from the rest of the animal kingdom.
  • Disease Origins. Before the Human Genome Project, MIT Tech Review’s Susan Young writes, “researchers knew the genetic basis of about 60 disorders. Today, they know the basis of nearly 5,000 conditions. Prescriptions are also changing because of genomics. More than 100 different FDA-approved drugs are now packaged with genomic information that tells doctors to test their patients for genetic variants linked to efficacy, dosages or risky side-effects.”
  • Personalized Medicine. “Doctors can now sequence a patient’s tumor to identify the best treatments,” Young writes. “Specific drug targets may be found in as many as 70 percent of tumors.”
  • Gene Therapy. Several promising gene therapies may be candidates for FDA approval in the coming years, including:
    • A gene therapy that engineers a patient’s immune cells to identify and attack specific cancer cells has helped to clear up an “incurable” leukemia in a handful of patients.
    • The European Medicines Agency has recommended approval of a gene therapy for lipoprotein lipase deficiency, a rare disease wherein undigested fats accumulate in the bloodstream.
    • A therapy that would use genetically engineered stem cells to treat thalassemia has reached clinical trials in the U.S.

Ethical, Legal and Social Challenges

  • Who owns your genes? On April 15—one day after the Human Genome Project’s 10-year anniversary—the Supreme Court debated whether to uphold Myriad Genetics’s patents on two human genes associated with breast cancer. The court’s decision could have sweeping consequences for patient care, medical research and biotech innovation.
  • Privacy Issues. In January, a group of scientists revealed that they were able to use publicly available genetic information and an algorithm to identify some of the people who donated their DNA to the 1000 Genomes Project. Many are concerned that insurance companies could use genetic information to deny coverage to people who are at greater risk for heart disease, for example.
  • A New Kind of Eugenics? Mitochondrial replacement—a type of gene therapy wherein an embryo’s faulty mitochondrial DNA is replaced with DNA from a woman who is not its mother—is nearing approval in the U.K., raising fears that the therapy will lead society down a slippery slope toward the creation of “designer babies.”

Much More to be Learned

Interpreting the human genome has not been as straightforward as scientists anticipated 20 years ago. “The genome is far more complicated than anyone imagined,” bioethicist Robert Klitzman writes in Psychology Today. “The more we learn, the more we realize how much we don’t know.”

In the ten years since the completion of the Human Genome Project, we’ve learned that humans have the same number of genes as rats and fruit flies. How is it possible for humans to build cities and learn complex languages when each of us has fewer genes than a rice plant? Instead of genes, roughly 80 percent of the human genome is DNA dark matter whose function is unknown—and currently being debated.

We’ve also learned that, inconveniently enough, most traits and diseases don’t have a single-gene cause. “In most forms of diseases, it’s whole constellations of genes operating in networks,” Eric Schadt, chairman of genetics and genomic sciences at Mount Sinai Icahn School of Medicine, told HealthDay. “That becomes a much harder problem. How do you target networks with a single drug?”

The next ten years of research and ethical debate will hopefully address these questions and more.

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