Genome project, 3 agendas, and many spin-offs

Mon, 6 Mar 1995 12:21:06 -0500

To all responders;
This has provided a lively source of debate and is appreciated in light of
some of the less than interesting Robert Johnson posts.

I would like to address each of the 3 responders:
Mike Lieber wrote"What I said was that the researchers were naive about the
political context in which their plans would be received ."

I thoroughly agree, many molecular geneticists never see beyond the walls of
their laboratories and thus are caught surprised when their announcements are
met with political and social repercussions. Wtih the advent of the ELSI
project and the input of clinicians and bioethicists we can only hope they
will begin listening to these concerns. (I am primarily a clinician who does
some clinical and some basic science research). Gene replacement as a
practical matter has already occurred in 2 diseases; adenosine deaminase
deficiency ( a form of severe immunodeficiency) and cystic fibrosis. An
experimental study is also being done with malignant melanoma. The difficulty
in all of these is getting a functioning gene in the right place in the cell
and then having it transcribe the correct protein and that these cells divide
and continue to live. This has, for example, prevented the use in muscular
dystrophy as the cells refuse to divide and most neurologic diseases as brain
cells do not naturally divide. The potential is still incredible for the
treatment of infectious diseases and not just AIDS but all infectious
diseases which are now becoming impossible to treat with antibiotics. One
major issue amongst geneticists is the untoward consequences of genetic
diagnosis and its impact on insurability and job hiring and firing.
Additionally, we do not know the desirability of eliminating some genes from
the environement. I carry 2 genes which in the homozygous state (both of the
same genes in one person) would be lethal or debilitating. We don't know,
however whether the carrriers have some selective advantage.

Luis Medina:
Your arguments tend toward the economic and national policy. Most of the
companies that will benefit from genome project discoveries are small
start-up companies who are taking big risks with so far very little economic
return. Yes, someone will profit but that is the nature of our capitalist
society. The argument that the Genome project is calling all variability
genetic defects is a misunderstanding of the nature of the project. It is not
designed to find diseases but to find all of the genes in the human genome.
No one is suggesting that all human variability is a disease and furthermore
the pharmaceutical companies have little to do with the project. Finally, I
too deplore the Republican's Contract war on children. Food, immunizations
and health care are the greatest insurers of resistance to disease but this
has nothing to do with the Genome project.

Rob Prince:
To start with your student has Marfan syndrome (Marshan's syndrome). this is
a particularly devestating genetic disease in some people who carry the gene
causing tall stature with long, thin limbs, serious eye problems and most of
all potentially lethal heart problems. (Flo Hyman died of this on national
TV). this is acutally a success story in terms of prediction and counseling
as many of the most severe problems can be anticipated and treated before
they become debilitating or life-threatening. Of the people who do not want
to know the gory details they are not forced to do so. They simply do not
have to be tested or informed if they don't wish to be. That is a principle
of non-directive counseling for which most geneticists ascribe. The
information should be there for those who want it as they may change their
mating or personal habits. As you can tell from the previous paragraphs the
human consequences of these activities is known and has been addressed in
many forums. As to gleaning the wheat from the chaff of DNA findings there
are probably about 100,000 genes most of which will be sequenced by the end
of the Project but their function may take several generations to decipher.
The progress of going from gene to disease to treatment is a matter of
technical ability which is transforming daily. The step from discovery to
disease process to treatment will concommitantly increase at a geometric
rate. Finally, the fear of Eugeneics (an American invention) is real and must
be addressed constantly. We as geneticists do not want to be the ones to make
society's decisions as to what is and what is not desirable. This needs
political and social input which does exist. We won't be able to put this
geneie back in the bottle and must do whatever is necessary to see that it
is used responsibly and not negatively impact us as a species or our planet.
Lawrence G. Leichtman, M.D. Genetics Eastern Virginia Medical School Norfolk,
VA and Operation Smile International Research Section