UBC Reports | Vol. 47 | No. 02 | Jan.
The challenges to using genetics wisely
Genetic factors are only part of the story, says Dr. Patricia Baird
by Dr. Patricia Baird
Dept. of Medical Genetics
The following is taken from a lecture Prof. Patricia Baird gave earlier this
We all know the remarkable progress in genetics we've seen over the
last several decades.
Specific genes can be identified, sequenced, manipulated, or put into other
organisms. A molecular genetic approach has led to greater understanding of
numerous specific disease pathways in individuals. Recombinant DNA is
used to produce hormones, or vaccines that are useful in treatment.
There has been a media blitz on how rapidly the Human Genome
Project is progressing,
including even President Clinton and Prime Minister Tony Blair. It's a rare
week that the media don't announce that a gene related to some
disease has been
As a consequence, there's a widely shared view that the sequencing
of the human
genome will tell us just which genes cause diseases -- cancer, arthritis, heart
disease or mental illness for example. Then, in light of that
design tailor-made new drugs that people will take to cure or prevent disease
from developing. In the longer term, we may even re-engineer the
genes in question -- we'll
fix the responsible gene.
It is promoted by many that there will be a genetics revolution in
and health. This scenario for the future is shaping the way in which a great
deal of research money is spent both by governments and by industry. But is
this scenario in fact likely?
Evidence shows that the circumstances we are exposed to over the course of
our lives determine much ill health. It's quite true that some
more likely to have disease because of their genetic endowment, but that is
only part of the picture.
Each individual also has their own profile of environmental
exposures to social/physical/nutritional
experiences. Learning more and understanding more about the role of genes in
human functioning should be pursued with the recognition that genes
with this variability, so it's not possible to tell a simple genetic causal
story for ill health except in some rather rare, single gene instances.
But the conditions from which most people suffer in
their adult years
will require us to consider both genetic and environmental components and how
these interact if we're going to understand them.
The complexity of interacting factors over time on the way to the chronic
common disease end-points of adulthood make it unlikely there will be widely
applicable "genetic magic bullet" solutions for common diseases.
Genetically based approaches to diagnosis and treatment will have to be
tailored to individual variation, and it is not yet clear whether this will be
practical or cost effective. To expect genetic interventions alone to
be sufficient to make us all healthier is unrealistic.
A great deal of money and a large industry is involved in supplying technology
for genetic testing and identification, and in producing therapeutic agents
based on a molecular genetic understanding.
Pharmaceutical/biotech companies investing in genetic research have an
obligation to shareholders to market and promote the use of a genetic approach
to disease. The more it's used, the more successful they are.
In the process, they are likely to divert attention and funding from
exploration of other determinants of health.
Biotech companies in the U.S. raised $8 billion a year annually
during the mid-'90s and the amount raised has increased since then.
The major U.S. pharmaceutical companies spend 24 per cent of their
income on marketing; their sales people make 30 million visits a year to
doctors' offices to market their products.
Several other factors contribute to the increasing focus on genetics. One of
these is overly simplistic media portrayals of disease causation.
Genetic accounts of the cause of disease are common in the media.
"Genes cause disease" is a simple message which is easier to
capture in today's
short media formats. Partly as a consequence, many people expect that common
diseases will be addressed effectively by genetic approaches.
Scientists like myself in biomedical disciplines also play a role in the focus
The human genome project is the largest "Big Science" project ever outside
physics/engineering, with many billions U.S. in expenditures involved.
Molecular geneticists in academia have increasing ties with biotech companies.
This means that the opinions of academic researchers with investments in those
firms or with appointments on boards or as consultants can't necessarily be
accepted as objective.
In a rush to a new knowledge-based economy, governments too have often
facilitated technology transfer from academia to industry without necessarily
taking into account the long-term broad implications, or the need for balance.
They haven't supported to the same degree exploration of other non-genetic
avenues to decrease disease incidence -- one kind of worthwhile research has
crowded out another.
Lastly, but importantly, genetic explanations are attractive to people in
some sectors of society who don't want to deal with complex social
determinants of health.
Framing ill health as genetic, and promoting individual genetic or
solutions pushes the problem back to the individual. It allows
on employment policy, or child-care policies, or inappropriate
to be avoided.
Clearly there will be numerous specific instances where
unravelling some disease
pathways or differences in drug metabolism will enable
I am not advocating that we stop pursuing these, or that we stop providing
genetic services. The individual clinical view of health determinants is
important. It underlies medical training and biomedical science, and it
provides a framework for the treatment of diseases in individuals.
What I am advocating, is that it's in the public interest to make sure our
framework is extended, that other important influences on health are recognized
A balance in the funding available to do research on what leads to most ill
health is needed, because other kinds of questions need to be asked as well as
genetic ones. And before large-scale genetic testing or so-called "preventive"
treatment is offered to healthy people, there should be requirements
to have data demonstrating benefit, that harms are unlikely to occur, and that
safeguards against these are in place.
Policy makers should view new and expanded expenditures on detecting
so-called risk genotypes related to common complexly determined
a healthy scepticism, and an evaluation of who is advocating such
and whether they are ones who will gain.
We are at a very exciting time in genetics. I think there'll be
in understanding, and in some specific instances in treating
using genetics. But it's essential to remember that genetic factors are only
part of the story.
Dr. Patricia A. Baird is a University Killam Distinguished Professor and
professor of Medical Genetics. She has served on many national committees and
chaired the 1993 Royal Commission on New Reproductive Technologies.
interests include the analysis of social, ethical and health consequences of
applying knowledge on human reproductive biology and genetics, and resulting
implications for public policy.