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How human genome sequencing went from $ 1 billion per Pop to under $ 1,000



IIn October 1990, a group of international researchers set a bold goal: to create a map of the DNA code that makes up the human genome. Each person has two sets of 3 billion bases, represented by the letters A, T, G and C, which is the unique set of instructions that control their cells throughout life. “Without a doubt, this is the most important, most wonderful map ever produced by mankind,”

; former President Bill Clinton proclaimed in a speech on the Human Genome Project. The final map and sequence was completed in 2003.

“The first genome cost us about a billion dollars,” says Dr. Eric Green, who has been working on the project since its inception and has been the director of the National Human Genome Research Institute for more than a decade. “When we now sequence a person’s genome, it’s less than $ 1000, so it’s a million times reduction.” (The entire project came to about $ 2.7 billion, but it included sequencing of various organisms, further research, and technology development.)

“We said, give us your crazy ideas, give us your really crazy ideas, and give us your almost insane ideas.”

On Wednesday, Green and colleagues from the institute published their strategic vision for the next 10 years of genomics and the potential for improving human health in the journal Nature. Green shared his thoughts Forbes about how far we have come and what the future brings.

The following printout has been edited and condensed for length and clarity.

About how the first success evoked innovation

The day the human genome project ended, everyone was like, “We finished our marathon.” We all collapsed after crossing the finish line. And everyone looked around and we said, “Oh, given, we did it, we sequenced the first human genome, holy cow, we need to find a better way to do this!”

Our institute made the headline as part of our strategic vision for 2003 that we needed the “thousand dollar genome.” We as financiers took responsibility for saying that we need to stimulate technology development in this area. We said, give us your crazy ideas, give us your really crazy ideas, and give us your almost insane ideas.

On how public-private partnerships accelerated development

While the federal government funded the Human Genome Project, there was a parallel effort in the private sector led by Craig Venter at Celera Genomics, followed by a proliferation of new sequencing companies, including Solexa, later acquired by Illumina, Pacific Biosciences and Oxford Nanopore Technologies.

There was huge investment in the private sector and good investment in the academic centers. And the ecosystem of academia develops things, licenses these advances to these private companies, the private companies develop things, then one private company buys another private company. It just keeps going. Now we are advancing 17 years later, we have all sorts of new technologies.

By sequencing the coronavirus

The human genome is 6 billion letters. The darn little coronavirus is 30,000 letters. From a technological point of view, it is very easy to sequence its genome, and researchers did so in about three days. It is actually difficult to go and do it at high capacity for diagnostic testing purposes because it is so small. You need to come up with ways to make it cost effective. Therefore, they gather samples and do all these things.

On future research goals in the health care system

If you gave me a cheek stick, I could get your 6 billion letters mostly sequenced within a few days. I could put this information on a computer and it will spit out a list of approx. 3 to 5 million sites where your genome sequence is different compared to some reference. But there are probably only a few hundred of these 3 to 5 million differences that I can say with certainty are medically relevant. In other words, we are still early on in interpreting the human genome and interpreting how spelling differences in the genome are relevant to health and disease.

Increasing with genetic lineage testing companies like Ancestry.com and 23andMe

In fact, I think these direct to consumer businesses have done a lot to make people more aware of genomics. And if they use ancestry as a tool to get people to think about DNA and genomic analysis, I think that’s great.

That page goes a little too far ahead of the scientific evidence for the role that certain genomic variants play in health and disease. I always worry a little about the over-interpretation of the health information. But the horse is out of the barn, you will not stop it. My position is that we just need the scientific community to catch up. The more we get this validity associated with the role of genomic variants for disease, the more we do not have to worry about people being misled. I think of this as a short-term problem.


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