The Decade After Decoding

This month marks the tenth anniversary of one of the greatest scientific achievements of our time when in 2003 researchers decoded the last of the three billion letters that make up the human genome.

Dr. Eric Green, director of the National Human Genome Project, spoke with reporters a week ago saying that the milestone might not be breaking news, but it does warrant a few moments of reflection.

Green noted the  breadth of technical, scientific and medical advances made in the last ten years.

For Green, those advances have set the stage for what will become the age of genomic breakthroughs. We’ve already made great strides that have changed people’s lives in both big and small ways, he said.

“By improving our understanding of basic genome biology, the genomic underpinnings of disease and genomic medicine, the field gets ever closer to its ultimate goal – improving human health through genomics research,” he said.

Pointing to cancer, as an example, Green said genetics has transformed how it is diagnosed and treated. The astounding drop in the cost of sequencing has opened the way for doctors to easily use genetic information when treating patients. In the case of breast cancer, doctors now regularly sequence tumors and if they find that the tumor is positive for a genetic signature known as “HER-2” they know that their patient will benefit from the drug Herceptin. And in the case of prescription drugs, the FDA now recommends the use of genetic testing in prescribing more than 100 medications, to help ensure that the right amount of the right drug is prescribed to the right patient.

Some of the most dramatic breakthroughs in genetic science have been in the treatment of rare diseases. While rare diseases are individually rare, when you add up all the people who suffer from a rare disease it amounts to about one in ten, or about 30 million people in the United States. Doctors now know the genetic underpinnings of almost 5,000 rare diseases, more than twice as many as a decade ago.

And the science has had tremendous impact on many lives. Consider the case of Nic Volker, a 4 year-old Wisconsin boy suffering from a mysterious life-threatening disease that had required multiple painful surgeries. His story, written about eloquently by Milwaukee Journal Sentinel reporters Mark Johnson and Kathleen Gallagher, had a happy ending after doctors worked tirelessly to identify the genetic mutation causing the problem. Knowing the mutation allowed them to come up with a possible treatment – a risky but ultimately successful bone marrow transplant.

While saying that “we have a long way to go to deliver on the promise of genomic medicine,” Green said the progress thus far has been “amazing.”

  • William Sinclair

    Had my DNA tested; my yDNA is R1b1a2 and my MtDNA haplo group is U5. This is sort of interesting but what good does it do me?

    • ScottH

      Discover magazine Blogger Razib Khan recently posted that there was no value to knowing your maternal and paternal haplogroup, but with respect we disagree.

      Ideally 23andMe customers consider the entire set of data – chromosomes 1-22, X and Y (if male) plus the mitochondrial genome in seeking to understand their genetic ancestry. The autosomes – chromosomes 1 to 22 – and the X chromosome are inherited from multiple ancestors, and therefore capture information about many ancestors in each generation. The Y chromosome and mtDNA each contain information about just one line of ancestors – one per generation. So 23andMe’s Ancestry Composition feature provides the main story in terms of ancestry. By learning our maternal and paternal lines we get a great deal more information about the history of these particular genetic regions than we can for segments on chromosomes 1 to 22 or X because the Y and mtDNA do not undergo recombination (well, the Y does, but haplogroups are based on the non-recombining region of the Y chromosome). So one can see a lot of variation within a single non-recombining genetic segment. Therefore, while you could try to follow the ancestry of a particular segment on chromosome 6 (23andMe’s Ancestry Composition feature does just that), the picture for any given segment is far more blurry than it is for a Y or mtDNA haplogroup.
      To the extent that a Y or mtDNA lineage is correlated with your other lineages (that is, to the extent that in the past people had children with people who lived near them), the Y and mtDNA also carry, indirectly, information about other ancestors.
      In some cultures the father’s father’s father’s … line is of special significance, and in other cultures the mother mother’s mother’s … line is of special significance. Setting cultural traditions aside, these lineages are easy to define, and one can more readily envision the connection between two people through, say, their respective maternal lines than through pathways that travel through male and female ancestors.
      In some cases the haplogroup can show which side a particular component of ancestry is from – the Y and mtDNA are valuable to consider in conjunction with the information from the rest of the genome.

      To summarize, the Y and mtDNA harbor information about a small fraction of our ancestors, but they can be very interesting pieces of our individual ancestry puzzles.

  • Alan K. Hutchinson

    African, Asian, and European are not “nationalities”. It merely describes the political division of the world in which you were born.

  • Wendy

    This is fancinating. I would love to find out about my background. How much does this cost?

  • this is wonderful to see these improvements going on and i feel that one day if these tools can be available and affordable by all people, its gonna be the greatest breakthrough in medical field..

  • perez

    Why we must consider the complete HUMAN GENOME as a “W H O L E” ?

    from SCIRP scientific research APPLIED MATHEMATICS (BIOMATHEMATICS issue
    10B Octoner 2013) website Inline
    image 1]