A look back at the new revolution
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No, this commentary is not about the 1960s. Those days have passed, although at times it seems like we haven’t made any progress.
This is about the Human Genome Project, something to make you feel good for the next couple of minutes.
Origins of the project
It has been 22 years since the mapping of the human genome.
In 1985, Charles DeLisi, PhD, associate director for health and environmental research at the Department of Energy, started discussion of the project to sequence the complete human genome. Federal funding began in 1987.
A year later, the NIH established the Office of Human Genome Research with James D. Watson, PhD, co-discoverer of the double helix structure of DNA, as director. Watson successfully obtained political support by promising to devote a small fraction of the project budget to ethical, legal and social issues. That move was definitely thinking outside the box.
Double Nobel laureate Fred Sanger, PhD, of the Laboratory of Molecular Biology in Cambridge, England, invented the basic technique of gene sequencing in the 1970s. Without the sequencing technology the human genome would have taken a lot longer to “map.” It also could not have been done without computer programs developed by Philip Green, PhD, at University of Washington in Seattle.
Of course, many other individuals played a role in getting to the result in February 2001. It was the product of more than a decade of work involving 20 sequencing centers in six countries, including the United States, the United Kingdom, Japan, France, Germany and China.
The draft genome sequence was generated from a physical map covering more than 96% of the euchromatic part of the human genome. Together with additional sequence in public databases, the draft covered about 94% of the human genome.
Adoption of principles
Importantly, the Human Genome Project adopted two principles. First, the collaboration would be open to centers from any country. The second stipulated rapid and unrestricted data release. The centers adopted a policy that all genomic sequencing data would be made publicly available without restriction within 24 hours of assembly.
The Human Genome Project demonstrated that individuals who learned to conduct high-throughput genomic analysis and utilize the computational tools needed to make full use of biological databases would have tremendous competitive advantage.
It was felt at the time of the Human Genome Project release that the outcome of this natural selection would be dismissal of many top scientists and research groups to an inferior rank or position. As Francis Collins, then director of the National Human Genome Research Institute, told Nature: “Every institution that expects to be competitive in this new era will need to have strengths in high-throughput genomics analysis and computational approaches to biology.”
‘Advance in self-knowledge’
In a commentary that accompanied the Human Genome Project publication, Nature Senior Editor Carina Dennis, Chief Biology Editor Richard Gallagher and Editor-in-Chief Philip Campbell stated, “Humans are much more than simply the product of a genome, but in a sense we are, both collectively and individually, defined within the genome. The mapping, sequencing and analysis of the human genome is therefore a fundamental advance in self-knowledge; it will strike a personal chord with many people. And application of this knowledge will, in time, materially benefit almost everyone in the world.”
Twenty-two years later, I think we are just starting to reap the rewards of decades of scientific research.
It’s always good to look back in history, both to learn from it and, in some cases, not repeat it.
Amazingly, the word genetics was not coined until 1901. Biologist William Bateson studied organismal variation and heredity of traits within the framework of evolutionary theory in England. He applied Gregor Mendel’s work to Charles Darwin’s theory of evolution and created the term genetics for a new biological discipline.
Imagine if he were alive in 2023 and saw the results of his new discipline.
Stay safe.
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For more information:
Nicholas J. Petrelli, MD, FACS, is Bank of America endowed medical director of ChristianaCare’s Helen F. Graham Cancer Center & Research Institute and associate director of translational research at Wistar Cancer Institute. He also serves as Associate Editor of Surgical Oncology for HemOnc Today. He can be reached at npetrelli@christianacare.org.
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