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Cracking the Genetic Code, From NIH Director Dr. Francis S. Collins

Dr. Francis S. Collins, M.D., Ph.D., Director of the National Institutes of Health

To mark the 10th anniversary of the decoding of the human genome, PBS NewsHour's Jeffrey Brown interviewed Dr. Francis S. Collins, M.D., Ph.D., Director of the National Institutes of Health. As Director of the National Human Genome Research Institute (NHGRI) from 1993-2008, Dr. Collins led the successful public effort to crack the genome. Following are edited highlights of their discussion.

JEFFREY BROWN: It was a landmark moment in science in 2000: Cracking of the genetic code raised the prospect of pinpointing the root causes of illnesses, eventually leading to so-called designer drugs and other therapies…Hundreds of sites on the human genome have been linked with diseases, including various kinds of cancer. But developing cures has proven difficult, and some researchers now believe that genetic mutations, or changes in our DNA, may not have a direct cause-and-effect relationship with disease.
FRANCIS COLLINS: We have learned a prodigious amount about our own DNA instruction book, the human genome…We know that half-a-percent makes you different from me.

JEFFREY BROWN: Half-a-percent?
FRANCIS COLLINS: That's all. And we have learned how a lot of those variations play a role in risks of disease, almost 1,000 of them; that one increases your diabetes risk, that
one cancer. The risks are modest, but those are really important insights.

JEFFREY BROWN: You wrote recently, "Genome research
has already had a profound impact on scientific progress." In
what ways?
FRANCIS COLLINS: A graduate student today cannot imagine how you did research without access to the human genome sequence. It is so fundamental, something you're looking at many times a day to guide your experiments. It is the foundation of everything we do. For a scientist, this is incredibly empowering.

JEFFREY BROWN: Give me an example.
FRANCIS COLLINS: We know that autism has hereditary contributions. If a family has a child with that disease, the risk that the next child will have it goes up by almost a factor of 100. So, there's something really significant going on there.

But how do you approach that? Now, with sequencing technologies that allow you to sequence an entire genome for $10,000 in less than a week, you can really begin to see what's there.

JEFFREY BROWN: But you've said that the Human Genome Project has not yet directly affected the health care of most individuals. Why not?
FRANCIS COLLINS: Frankly, predictions in 2000 that that was going to happen overnight were not very realistic.

JEFFREY BROWN: There's some sense of disappointment about being able to translate the scientific advances into clinical advances.
FRANCIS COLLINS: I understand that impatience. But this is a long and complicated pathway. It's one thing to scan through the genome and identify a pathway that seems to be involved in cancer. It's another to take that information and come up with a magic bullet for leukemia or lung cancer.

JEFFREY BROWN: What did you and others not quite grasp about how difficult this would be?
FRANCIS COLLINS: We underestimated the contribution of the parts of the genome—about 1.5 percent—that don't code for protein. If we understood that, we would be very far along in understanding risks of disease. It turns out, the other 98.5 percent of the genome is incredibly complicated, but incredibly important in regulating how those genes function. We probably should have known there must be a lot going on there.

"Over the next 10 years, more and more people will have their genomes sequenced, placed in their medical records, and have that information available to predict risk and what can be done."

JEFFREY BROWN: What's next in clinical advances in 10 years?
FRANCIS COLLINS: We are still not able to identify the heritability for common illnesses like diabetes and heart disease. We have identified a lot but there are some missing parts. In the next three to five years, now that we can sequence an entire human genome so quickly and do so many of them, our ability to accurately predict individual risks will increase greatly.

Over the next 10 years, more and more people will have their genomes sequenced, placed in their medical records, and have that information available to predict risk and what can be done. That same information will be very valuable in choosing what drug is going to work in an illness [because]…much of the variability in drug response comes from the genome. Most significant will be the development of completely new therapeutics, but that's probably another 10 years off.

For cancer, heart disease, Alzheimer's, Parkinson's, it's going to take a little longer because of those long steps leading from discovery to an idea about a compound that might work, to animal testing, clinical trials, and approval.

JEFFREY BROWN: How close are we to affordable, readily available, personal genome sequencing?
FRANCIS COLLINS: People often mention Moore's law, where computer power gets better by a factor of two every two years. DNA sequencing is going much faster. Within four years, we see your complete genome being sequenced for less than $1,000. So, once and for all, why not get that information into your medical record [and] begin to utilize it for a host of decisions about your medical care?

JEFFREY BROWN: Of course, that raises questions about privacy, about what we do with all this information.
FRANCIS COLLINS: Interpretation is going to be a moving target. Once we have our genome sequenced, we are going to want to be connected with the process of interpretation, which is going to get gradually better over time, so that if somebody makes a discovery that happens to be relevant to you, you learn about it.

For the complete transcript and video interview, visit Click on "Recent Programs" and select the June 24, 2010 program.

Fall 2010 Issue: Volume 5 Number 3 Pages 2 - 3