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How human genome sequencing plummeted from $1 billion to under $1,000



IIn October 1990, a group of international researchers set a bold goal: to map the DNA coding that makes up the human genome. Everyone has two groups of 3 billion bases, represented by the letters A, T, G, and C. They are a unique set of instructions that guide the cells throughout their lives. Former President Bill Clinton declared in his speech on the Human Genome Project: “There is no doubt that this is the most important and wonderful map in human history.”

; The final map and sequence were completed in 2003.

“The first genome cost us about a billion dollars,” said Dr. Eric Green. He has been working on the project since its establishment and has been the head of the National Human Genome Institute for more than ten years. “Now, when we sequence a person’s genome, it costs less than $1,000, so it’s reduced by a million times.” (The entire project cost about $2.7 billion, but this includes sequencing different organisms Additional research and technology development.)

“We said to bring us your crazy ideas, bring us your truly crazy ideas, and bring us almost crazy ideas.”

On Wednesday, Green and colleagues from the Institute published in the journal Nature their strategic vision for genomics in the next decade and the potential to improve human health.Green shared his thoughts with him Forbes About how far we have gone and the prospects for the future.

The following transcripts have been edited and condensed to ensure their length and clarity.

On how first-time success inspires innovation

On the day the Human Genome Project ended, everyone was like “We finished the marathon.” Crossing the finish line, we all fell apart. Then everyone looked around and we said, “Oh my God, we did it. We sequenced the first human genome, the sacred cow. We must figure out a better way to do this!”

As part of the 2003 strategic vision, our institute put forward the title, that is, we need a “thousand dollar genome”. As funders, we have a responsibility to say that we need to promote technological development in this area. We say to bring us your crazy ideas, bring us your truly crazy ideas, and bring us almost crazy ideas.

On how public-private partnerships promote development

While the federal government was funding the Human Genome Project, the private sector led by Craig Venter of Celera Genomics also made similar efforts, and then new sequencing companies emerged, including Solexa, which was later used by Illumina, Pacific Biosciences and Oxford Nanopore Technologies. Acquired. .

There is a lot of investment in the private sector, and there is also a lot of investment in academic centers. Then there is the ecosystem of academia developing things, authorizing these advance payments to these private companies, these private companies are developing things, and then one private company buys another private company. It continues. Now we have fast-forwarded 17 years later, we have all kinds of new technologies.

Coronavirus sequencing

The human genome is 6 billion letters. The damn little coronavirus is 30,000 letters. From a technical point of view, sequencing the genome is very easy, and the scientists completed the sequencing in about three days. Now, operating at high throughput for diagnostic testing purposes is actually difficult because it is so small. You must figure out a way to make it cost-effective. This is why they pooled samples and did all these things.

Future research goals on healthcare

If you give me a cheek swab, I will receive most of the sorting information of your 6 billion letters within a few days. I can put this information on the computer, and it will spit out a list of about 3 to 5 million locations whose genome sequence differs from the reference. However, I can confidently say that out of 3 to 5 million differences, only a few hundred are medically relevant. In other words, we are still in the early stages of explaining the human genome and explaining the relationship between spelling differences in the genome and health and disease.

With the rise of genetic ancestry testing companies such as Ancestry.com and 23andMe

I actually think that direct-to-consumer companies have done a lot of work to make people more aware of genomics. And if they use ancestors as a tool to motivate people to think about DNA and genome analysis, that would be great.

Regarding the role of certain genome variants in health and disease, the relevant aspects have gone far beyond scientific evidence. I always worry about over-interpretation of health information. But that horse is not in the barn, you won’t stop it. My attitude is that we only need the scientific community to catch up. The more we can obtain the effectiveness related to the effect of genomic variation on disease, we don’t have to worry about people being misled. I think this is a short-term problem.


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