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Researchers Announce Completion of Human Genome Sequencing

Aired June 26, 2000 - 2:01 p.m. ET


NATALIE ALLEN, CNN ANCHOR: Our top story -- this is a big one, so big one doctor says it may be the biggest achievement in the history of mankind, one that promises to revolutionize medicine in the 21st century.

Scientists announced today they have finished a draft of the human genome, the instruction book for human beings. This hour: how it all works, what it may mean for your, and the ethical considerations. And we promise you won't have to be a Nobel laureate to understand today's big story.

Well, let's get started in Washington, CNN medical correspondent Eileen O'Connor. She understands fully. She's been reporting on it for a good long time. She joins us from the White House, where today's announcement was made -- Eileen.

EILEEN O'CONNOR, CNN CORRESPONDENT: Well, Natalie, it took me months of studying to even begin to understand this, because what these scientists have done is incredibly complicated. They have basically deciphered the chemicals that make up the DNA in each one of our cells, and there's 3.2 billion bits of those chemicals. And it's the way that these chemicals are ordered that determines what our cells will be and how they will work, and whether you are predisposed to having certain diseases.

Now, it took a publicly funded consortium of about 1,100 scientists from labs from the United States, Britain, France, Germany, Japan and China, and a privately funded venture to come up with working drafts of this decoded DNA assembled in its proper order. The -- both sides, which had once been in great competition, praised the other side for what they now call this historic milestone.


CRAIG VENTER, CELERA GENOMICS: One of the wonderful discoveries that my colleagues and I have made while decoding the DNA of over two dozen species, from viruses to bacteria to plants to insects and now human beings, is that we're all connected to the commonality of the genetic code in evolution. When life is reduced to its very essence, we find that we have many genes in common with every species on Earth and that we are not so different from one another.

(END VIDEO CLIP) O'CONNOR: They are hoping that by comparing the private data and the publicly funded government labs data that they will be able to determine where genes lie on this deciphered DNA and also which genes could be linked to certain diseases.

And Francis Collins, the head of the government's funded project, says that by deciphering this so-called "instruction book" to our lives from the beginning of birth you'll be able to determine what kinds of diseases a person might have and actually prevent them.


FRANCIS COLLINS, DIRECTOR, HUMAN GENOME PROJECT: We have reached a milestone that we promised to get to just about now: That is covering the genome in what we call a "working draft" of the human sequence. That is not to say that we have it all finished and zipped up and every last letter precisely identified. That will take a number of additional steps and probably the better part of the next couple of years to achieve.


O'CONNOR: Craig Venter of the privately funded lab says that they have now developed new method that could help in filling in those gaps using supercomputers and mathematical computations to enable them to do that.

President Clinton has praised these scientists for their cooperation. As I said, they were once fiercely competitive, but they have come together. He says that he vows that he will continue public support for this and wants them to continue cooperating. He says in that way they will be able to accelerate the medical advances that will lead to cures and new treatments.

But the president noted that while this information has the power to heal it also has the power to harm, and now is the time to determine the parameters and the uses of this information.


WILLIAM J. CLINTON, PRESIDENT OF THE UNITED STATES: As we consider how to use new discovery, we must also not retreat from our oldest and most cherished human values. We must ensure that new genome science and its benefits will be directed toward making life better for all citizens of the world: never just a privileged few.


O'CONNOR: Congress is already considering laws to protect the privacy of your own individual genetic code, but as these doctors and scientists have noted in -- within perhaps 10 years you will be enabled to read your own genetic code and will tell your doctor what kind of drugs will be most helpful to you and what kinds of diseases you might be prone to -- Natalie.

ALLEN: All right. Eileen O'Connor in Washington. Now for more on the story, here's Lou.

LOU WATERS, CNN ANCHOR: The competitors in this race to sequence the human genome took different tracks to the finish line. But as CNN's Ann Kellan now reports, none of their work could have been possible without the computer revolution of the late 20th century.


VENTER: It's remarkably simple. We can sit here and we can just read down the genetic code.

ANN KELLAN, CNN CORRESPONDENT (voice-over): Celera Genomics, a private company, sequenced the human genome in just one year by using brute force.

VENTER: New supercomputers, new mathematical algorithms, new technology combined with this strategy is why we were able to sequence the human genome in about nine months here instead of 15 years.

KELLAN: The U.S. government took on the human genome over a decade ago and had to start from scratch.

ERIC LANDER, WHITEHEAD CENTER FOR GENOMIC RESEARCH: We started the 1990s without a clue as to how we were really going to do this. The work was not so much sequence the letters of the DNA, but working out a way to do it in the first place.

KELLAN: It took government scientists years to develop the tools and the techniques to tackle such a massive project, but like Celera, did most of the actual sequencing in the last year or so.

(on camera): So what's the difference between the two methods. First, let's take a look at what they have in common. Let's say this newspaper is the human genome. Both have to shred it to know what's in it. Now the tricky part is to reassemble it in the right order, and that's where the difference lies.

Celera shreds the entire newspaper and with the help of supercomputers reassembles it where the government, using less powerful computers, shreds and reassembles the genome one section at a time.

(voice-over): There are a couple of other differences. Celera is sequencing the complete genome of one person while the government is taking sections of DNA from lots of different people. Also, the government's results are free and available on the Internet. Celera, a private company, will charge a fee for accessing its results. Both genomes will have gaps.

LANDER: There are a lot of holes. Some pieces of the puzzle are harder to assemble than others,

A year or so ago, we maybe had 10 or 15 percent of the picture. We've now got something like 90 percent of the picture.

KELLAN: Already the sequenced genome is revolutionizing research.

VENTER: I spent 10 years trying to get one gene. Now you can go to our database and get that in 15 seconds.

KELLAN: So time once spent finding the gene can now be spent finding a cure.

Ann Kellan, CNN, Cambridge, Massachusetts.


ALLEN: Well, as we said, it may be years before the genome project can be put to practical everyday use. But at least in one instance, it had an immediate impact.

Here's CNN medical correspondent Rhonda Rowland with the case of the missing gene.


RHONDA ROWLAND, CNN CORRESPONDENT (voice-over): Hanna (ph) Schilling has a heart defect, an opening in the roof of her mouth, problems with calcium, and learning difficulties.


UNIDENTIFIED MALE: Do you hear any speech.

UNIDENTIFIED FEMALE: Yes. She says five words.


ROWLAND: Hanna, now 3 1/2, was born with a genetic condition called chromosome 22 deletion. She's missing a small piece of that chromosome. It affects 1 in 3,000 to 4,000 newborns.

DR. BEVERLY EMANUEL, GENETICIST, CHILDREN'S HOSPITAL OF PHILADELPHIA: In years past, children like Hanna would go for a long time without a diagnosis.

ROWLAND: But the genome project has changed that. While researchers were trying to sequence No. 22 -- they finished last December -- they found that some people were missing parts of it. Thus, chromosome 22 deletion.

DR. ELAINE ZACKAI, CHILDREN'S HOSPITAL OF PHILADELPHIA: If not for the Human Genome Project, where they were painstakingly mapping the genes on chromosome 22, we would not have had the ability to go ahead and develop the probe, which was done here.

ROWLAND: That is a test that's been used to diagnose hundreds of children with the condition.

But questions remain about chromosome 22 deletion, like how can we predict it, questions the human genome may also eventually answer. (on camera): For instance, some children with the deletion have the heart defect, like Hanna. Others don't. Some just have a minor learning difficulty, even though the children are missing the same chunk of chromosome 22. The same questions arise for other diseases and genetic disorders.

(voice-over): Researchers suspect the range of severity comes from the way genes or a group of genes interact with each other.

EMANUEL: And that's really sort of where our work will take us: to figure out what the genes do, how they play out their effect on the developing fetus, if you will, or the baby so that maybe some day we could think about a cure.

ROWLAND: That work is expected to take years.


UNIDENTIFIED FEMALE: How about the yellow duck? Can you find me the duck?


ROWLAND: In the meantime, Hanna's parents say the knowledge they gained from the genome project is helping them plan her medical care and education.

TAMMY SCHILLING: The more she knows, the more knowledgeable she'll be able to be about her life. And that's just a goal for us right now, is just to know as much as we can so that we can help her have just as normal a life an any other child.

ROWLAND: Rhonda Rowland, CNN.




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