When the Human Genome Project was proposed in the late 1980s, it had all
the potential for becoming another bloated government boondoggle. It was projected to cost
several billion dollars, last 15 years and had as its lofty goal the deciphering of the
human genetic code.
I suspect that the average taxpayer in 1990—the year the project
started—either had no idea what the project was all about, or more likely,
didn’t want to be bothered by it. One man, however, certainly did.
James Watson, co-discoverer of the structure of the DNA molecule with
Francis Crick and Maurice Wilkins, was the man with a vision. He faced Congress in 1987
and asked for the money to fund the project, $30 million the first year. Surprisingly,
Watson prevailed.
Scientists from both the public and private sector have been plugging
along on the complex problem ever since. Now, almost five years ahead of schedule, they
are about to open up a bag of knowledge that will have profound implications for biology,
medicine, business, and our social and ethical lives.
I don’t think it is an overstatement to say that the impending
revolution in biological sciences will dwarf the computer, information and Internet
revolution that we are now in the midst of.
I imagine others had experiences in biology as absurd as mine. It might as
well have taken place a hundred years ago. We were constantly cloistered in a dark, stinky
lab either doping fruit flies with ether or carving up little gray, fetal pigs. What we
learned I couldn’t say (maybe I have the ether to blame). Until the focus of the
field turned to molecular and cellular concerns, sometime after Watson, Crick, and
Wilkin’s 1953 discovery, it seemed biology was neither very glamorous nor dynamic. It
had the image of being the slow, dull, little sister of the "real" sciences,
chemistry and physics. Biology has come a long way since then.
What is the Human Genome Project? To understand and appreciate the
significance of the project, one has to take a slight digression into the basics of
genetics.
Inside every single cell of our bodies, from liver cells to heart, brain
and skin cells, there are 23 pairs of chromosomes (one member of each pair from each
parent). The chromosomes are really nothing but DNA, exceptionally long, stringy molecules
comprised of four chemical building blocks. The building blocks are the four molecules
adenine, thymine, cytosine, guanine—or A, T, C, and G for short.
A strand of DNA is analogous to a long sentence in English written with an
alphabet of only four letters: A, T, C and G.
Now, if one were to describe a human being by his traits, eye color,
height, skin color, shape of nose etc., it would take about 100,000 such traits to do so.
How does a forming body know what shape, size, color etc. to make itself? The DNA in every
cell specifies it, much like a set of instructions written in the four letters of the DNA
alphabet, A, T, C and G. To specify 100,000 traits requires a string of instructions over
3 billion letters long
How do our bodies actually use DNA? The DNA functions as a recipe book for
producing all of the proteins in our bodies. And proteins are at the core of everything we
are. They control all of our biochemical pathways, cell structure and cell movement. From
a physical standpoint, we are very little but proteins and water.
Suppose I write the sentence, "Genetically speaking, mice and men are
90 percent identical." Now instead of using the English alphabet, what if I used my
own secret alphabet. The sentence would look something like this: "Y4j969fwpp7I
e[4wlomy, of4 wmr, 4m w545 io [45f4m6 or4m6ofvw;/aaa." If I asked you to read it how
would you proceed? This is what decoding DNA is all about.
We have these long involved instruction sets in the form of DNA molecules
inside every cell of our bodies, yet we don’t know how to read them. When people talk
of decoding DNA, not only do they have to figure out the letters being used, they have to
figure out how they are organized into words that mean something. A sentence is useless
unless we can read it.
In the next few weeks or months, the project leaders and scientists from a
private company, Celera, are expected to publish a rough draft of the human genome. In
general terms it means that scientists will be able to tell us where on the long strands
of DNA certain traits and diseases are specified. The potential for new understanding of
our bodies and its diseases is enormous.
As with any great potential advance there are dramatic risks as well. Some
of them are legal; some are ethical. I bring all of this up because the general public
will soon be faced with difficult decisions. I think it better that we work out the
answers for ourselves before the political and business interests do it for us. The
following are just a few of the issues to consider:
Who gets access to this genetic information? Is the knowledge of our
genetic makeup subject to patent laws? Clearly, the potential gain for pharmaceutical
companies is astronomical.
The privacy issues are daunting as well. If we can give a blood sample and
have our entire genetic code analyzed, who should be privy to that information? If a
doctor can tell you that you have a genetic predisposition for Alzheimer’s disease or
even colon cancer (a defective p53 gene), who else should know? The insurance companies,
your employer, your children, future wife? The number of perplexing scenarios is
unlimited.
How do we decide what is a genetic disorder versus a disability? Who
decides what gets treated? Given that we can alter genes through gene therapy, what are
the boundaries for such therapy? No doubt we will be able to enhance certain genes soon.
If you want to have a tall child, should you be allowed to mess with the mix, so to speak?
On a broader scope, what are the implications for our species as a whole
if we are meddling in the very process of evolution?
I am not saying we shouldn’t mess with the mix. There are over 3,000
genetic diseases out there. Besides, the information will soon be out of the bag whether
we like it or not. What we do with it will determine everything.
