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Genetic Milestone: Scientists Decode Makeup of Human Body, Revolutionize Future of Medicine; Celera, Government Tackle Sequencing

Aired June 26, 2000 - 9:01 a.m. ET

THIS IS A RUSH TRANSCRIPT. THIS COPY MAY NOT BE IN ITS FINAL FORM AND MAY BE UPDATED.

BILL HEMMER, CNN ANCHOR: Amazing news in the world of science. That's what we're looking at right now. We begin with this morning's announcement of a milestone in decoding the genetic makeup of the human body. President Clinton will announce next hour that scientists have completed a working draft of the so-called "book of life." Learning to read and interpret that book expected to revolutionize the treatment and the prevention of disease.

More now from our medical correspondent Eileen O'Connor on this from Washington.

(BEGIN VIDEOTAPE)

EILEEN O'CONNOR, CNN MEDICAL CORRESPONDENT (voice-over): Scientists in London hailed the working draft of an entire human genome as a scientific breakthrough that will change the face of medicine.

DR. MICHAEL DEXTER, DIRECTOR, WELLCOME TRUST: By working with the Human Genome Project we are beginning identify precisely the changes in certain genes that contribute towards diseases such as cancer. It's quite apparent that it's going to lead to new forms of treatment, diagnostics and also new preventative medicines.

O'CONNOR: President Clinton will be joined by publicly funded researchers in the United States who have collaborated with the international effort, and scientists from a private lab, at a White House ceremony. The president is expected to emphasize the need for researchers to freely access this information to accelerate that research. Scientists here, too, hope by reading what is literally a rough translation of the DNA in our cells, the chemical pairings that determine what each cell will be and how it will work, they will be able to predict and perhaps prevent disease.

Francis Collins heads the public venture, the Human Genome Project.

DR. FRANCIS COLLINS, DIR., HUMAN GENOME PROJECT: Well, with 90 percent of the sequence in front of you, if you're searching for a disease gene and you know roughly where it is, this will greatly speed up your ability to identify it. O'CONNOR: Collins is now passing the information to other scientists to review. P.E. Celera, the private company, is using a different method. Celera began its effort only one year ago, but also have completed a working draft of an entire human genome. Deciphering the DNA of an anonymous donor. Now scientists from all over the world will come to Celera's headquarters in Rockville, Maryland, to study the assembly and annotate exactly where genes and chromosomes lie.

CRAIG VENTER, CELERA GENOMICS: The interpretation phase here, that's really the fun phase of the whole project, because then we finally have the complete order of all the letters of genetic code. And we have to then work out what it means.

O'CONNOR: Once criticized, Venter's method is now being praised as a way to check and augment the government's approach. The much touted race between Venter and Francis Collins, the head of the government project, looks set to end with collaboration.

VENTER: I think people will realize later this year when both versions of the human genome get published, how comparing the data sets will lead to better understanding of the human genomes.

O'CONNOR: Even in science, they say, competition can be a good thing.

Eileen O'Connor, CNN, Washington.

(END VIDEOTAPE)

DARYN KAGAN, CNN ANCHOR: More now about genes. They know -- not only determine how we are and how we look, they control our biological makeup and determine whether we're susceptible to certain diseases.

Joining us is with more on that now is our medical correspondent Elizabeth Cohen.

Elizabeth, good morning.

ELIZABETH COHEN, CNN MEDICAL CORRESPONDENT: Good morning.

Now, Daryn, at a press conference earlier this morning in London, a scientist called the sequencing of the genome the outstanding achievement of the history of mankind. Because it gets to the very essence of who we are and it's expected to usher in a whole new era of genetic-based medicine.

(BEGIN VIDEOTAPE)

(voice-over): Marina Ripley-Hager (ph) is about to receive the news of a lifetime. Her mother and sister both died young of breast cancer. Now a genetic counselor at the Emory University School of Medicine is about to tell Marina if she carries one of the genetic mutations linked to breast cancer.

UNIDENTIFIED FEMALE: The results show that we did not find a mutation in the RCA-1 or BRCA-2. UNIDENTIFIED FEMALE: Oh, my God, that is so good. That is incredible. I so expected that it was going to go the other way, none detected, none detected.

COHEN (on camera): Geneticists say that because of what they've learned from the Human Genome Project, this could become routine for everyone in about a decade. Your doctor would be able to tell you if you're at a higher than normal risk for a whole host of diseases, everything from cancer to diabetes to heart disease.

ALAN GUTTMACHER, HUMAN GENOME PROJECT: You will be able to walk into your doctor's office, and your doctor will be able to do a fairly simple and inexpensive test to tell you, not exactly what your future is going to be, certainly, but tell you what your individual genetic predisposition is in terms of both health and disease.

COHEN (voice-over): And then you could put that knowledge to work.

COLLINS: If I knew I was at risk for colon cancer or heart disease, there are things you can do about that. And this leads you then towards an individualized plan of preventative medicine, focusing on keeping people healthy instead of trying to treat them when they're already quite advanced in an illness.

GUTTMACHER: It's not going to make life perfect, but it will give us a lot more control over our own lives.

COHEN: Dr. Alan Guttmacher, a senior adviser at the Human Genome Project, says a lot of people would be healthier if they'd had genetic testing, including him. Last year he had heart attack even though he was only 49 years old, in perfect health, and exercised regularly. So what happened? well, both his grandfathers died of heart attacks in their fifties. Dr. Guttmacher suspects he carries a gene for an irregular heartbeat. If he had known about the gene...

GUTTMACHER: We could have monitored me much more closely beforehand and see if I was beginning to have some abnormal rhythms, perhaps put me on medication which is known to make abnormal rhythms in your heart less likely to happen or to stop them once they begin.

COHEN: Of course, testing isn't perfect, for example, just because you tested negative, Marina Ripley-Hager still could get breast cancer. She just doesn't have a higher than normal risk.

Some people might not want to know if their susceptible to certain illnesses, for example if you have a higher than normal chance of getting Alzheimer's disease, there's nothing you can do about it. But there are medications Marina could have taken if she tested positive, so for her it was worth looking into that genetic crystal ball. A whole new way of looking at medicine and ourselves.

(END VIDEOTAPE)

KAGAN: So Elizabeth, we've had that fascinating conversation, talking about how you swab your cheek to find out if you might be likely to get a disease. What about people who are already sick with let's say, cancer or sickle-cell anemia, diseases that already exist that they already have? how can this help?

COHEN: Now what's interesting about this is that there was this announcement today and it sort of makes sound as if this is all new, and it's really not. A lot this information has been coming out over time and there are a few illnesses where they are experimentally looking at what's called gene therapy; which is where you take a gene that -- where something has gone wrong, and you try to replace it with a good version of the gene or you try fix the bad gene.

However, that's -- obviously that's somewhat controversial. There was a gene therapy experiment in which someone died last year, so it's obviously not without problems. So that's what they're looking towards, is doing gene therapy for more disease, but it's way down the road because it's a very difficult thing to do.

KAGAN: So on one hand, this is all very fascinating and exciting, on the other hand, it's scary, because we're talking "Big Brother" information. I don't know that I want my employer to know what my genetic make-up is or my health insurance.

COHEN: Exactly, and the legislation out there to protect you from getting fired, to protect you from having your HMO drop you, it's sort of patchwork, different states have different rules and the federal legislation doesn't cover everyone. And so a lot of people are very nervous about that and that's one of the many things that we are going to have to grapple with in the years to come. And another -- you can also think of this on a much more personal level: What if you had fallen in love and you were prepared to marry someone who you found out had a genetic predisposition to some horrible disease and had a high risk of dying young? would you still want to marry that person and would you want to pass that gene on to your child? It's a whole new way of thinking about these things.

KAGAN: We have to have the ethics and the thought catching up with the science as well.

COHEN: Exactly.

KAGAN: Well, Elizabeth Cohen, thanks for the good information -- Bill.

HEMMER: A lot of branches on that tree. A new poll shows Americans are divided over whether or not the milestone in genetic research is a positive development. Forty-six percent of those polled in a CNN/"Time" magazine say that the Human Genome Project will have harmful results, while 40 percent say it will have beneficial results.

A majority, 61 percent, said they would want to know if they are predisposed to developing a genetic disease, 35 percent say they would not want to know.

And on the question of how should -- who should have access to genetic information rather, 67 percent say it should be available to doctors and about one in five say insurance companies should have access to that information. Only about 14 percent think it should be available to the government.

KAGAN: Also interesting how this all kind of came to be. The private company Celera and the government took different approaches to decoding the genetic makeup. Celera took a fast route by breaking the entire human genome into small pieces and then using a supercomputer to reassemble it.

CNN science correspondent Ann Kellan now has more on the methods that led to this milestone.

(BEGIN VIDEOTAPE)

ANN KELLAN, CNN SCIENCE CORRESPONDENT (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.

UNIDENTIFIED MALE: There are a lot of holes, some pieces of the puzzle are harder to assemble than others.

ERIC LANDER, CTR. FOR GENOMIC RESEARCH: 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: If both groups are successful, the two genome sequences should be virtually identical.

VENTER: Remarkably simple. We can sit here and we can just read down the genetic code.

LANDER: We started the 1990s without a clue as to how we were really going to do this. The work was not so much sequencing 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 techniques to tackle such a massive project, but like Celera, did most of the actual sequencing in the last year or so.

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.

(END VIDEOTAPE)

KELLAN: So imagine that, now we can -- all that time these researchers are spent looking for genes, they can now spend finding cures and treatments for diseases. But there's a lot left to do, they still have to look through the 3.2 billion letters of code in the genome and isolate the different genes. They think there are about 40,000 of those genes, but they have their work cut out for them to make sure. Back to you.

KAGAN: Ann, thank you very much. TO ORDER A VIDEO OF THIS TRANSCRIPT, PLEASE CALL 800-CNN-NEWS OR USE OUR SECURE ONLINE ORDER FORM LOCATED AT www.fdch.com

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