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Jan-Mar2002-10(1)
EDITORIAL
The Human Genome Sequence: a
dilemma or an opportunity?
S K
Bhattacharjee
Many fears were expressed in the media when the
first reproductive human cloning was announced. While this has sparked off
informed debate in the western scientific community, in India, both the medical
and the scientific community at large appear to be unconcerned. However, we must
be ready for paradigm shifts in the health-care system following from the
insights into DNA sequences of human and other life forms, and the associated
technologies that will emerge.
Technical questions
From the discovery of genetic basis of diseases by
Archibald Garrod in 1901, the sequencing of the human genome, 3 billion long
string with the resolution of a single base ( A,T,G and C), is a great stride in
human history (1). The questions that this raises will be addressed by each
country based on its perceived needs and resources. Are we prepared to accept
the consequent challenges?
Since the dawn of human society, we have tampered
with the genetic make-up of livestock and crops to select useful traits. A
century ago Mendel's generalised rules governing the mechanism of inheritance
gave birth to the science of genetics. Eventually, in medicine the application
of this knowledge ushered in a scientific approach to disease diagnostics and
family counseling, a therapeutics revolution with antibiotics both natural and
synthetic, and finally, following the advances in recombinant DNA technology,
genetically engineered drugs and diagnostics. These occurred gradually in nearly
distinct steps of sophistication spread over the entire 20th century.
The Human Genome Project was justified largely on
the basis of its medical benefits (2). How is this knowledge going to be useful
to us as a developing nation? Will technologies emerge towards more effective
and economical health-care practices? Can this knowledge substitute for current
medical care practices? Where should we focus our limited funds for R & D to
optimally use this knowledge? Can we become equal partners in contributing to
and utilising global technological developments of an altogether new type and
sophistication? The medical profession must give serious thought to such
questions.
This knowledge will allow the prenatal and
pre-symptomatic diagnosis of disease genes and predict an individual's
occupational risks. The sequence of individual genes on structural analysis
mostly in silico will tell us how they function and are regulated, to help us
understand biological processes. The sequence data and analysis will provide the
framework for new drug design and therapies including gene therapy in some
cases. Mapping populations with microchip technology will allow us to conduct
mutation screening susceptibility to diseases. This knowledge could dramatically
change our approach to health care. Indeed, the Human Genome Diversity Project
will study DNA sequence data from varied populations globally, and map diseases
like thalassaemia, diabetes and sickle cell anaemia to determine if these are
due to random changes in the gene pool or to adaptation to local conditions (3).
However, only a few diseases originating from a single gene defect will be
amenable to gene therapy in the foreseeable future. Most are multi-genic and
multi-factorial, and their complexity will not yield easily with current
technologies in spite of genome sequence data of the highest accuracy (4).
The ethical dimension
Prenatal and pre-symptomatic diagnosis of disease
provokes many ethical concerns. In addition, many will oppose human cloning. The
use of embryonic or stem cells, whether normal or genetically altered, for
medical use or research, will be an area of dispute. Researchers will disagree
on how far these can genetically tampered without crossing ethical limits. More
importantly, they will have to agree on a definition of consciousness and
demarcate the stage of growth up to which an human tissue could be used for
commercial and medical purposes. Without an informed debate on these issues, we
may not benefit from post-genomic technological advances in our country.
A real danger
In India, scientific activity has little impact on
the growth and dissemination of knowledge. Students are taught to memorise facts
instead of developing their analytical abilities. This served commercial
interests; pharmaceutical companies influence prescribing practices by feeding
doctors easily digestible 'capsules' on their products. The poor quality of
genetics in medical education will keep our doctors captives of marketing
forces.
In recent history we have regressed to a state when
the scholars managing our universities forced in astrology as a formal subject.
As the genome sequence sets new trends in drug design and disease management,
requiring analytical skills and creativity comparable to that in developed
countries, Indian doctors could enter a similar phase of obscurantism if our
education is not immediately overhauled.
Doctors and teachers in India face an uphill task
in the new world. With our infrastructure in IT and globalisation of basic
knowledge base, now indeed is their opportunity to re-establish the high ideals
of their professions both in research and service.
Suggested reading
1. The human genome. Nature 2001; 409: 745-964.
2. Strachen Tom and. Read Andrew P. The Human Genetics. BIOS Scientific Publisher, 1996
3. Kline R M : Whose blood is it, any way? Scientific American 2001; 248: 42-49.
4. Chapella A de La : The land between Mendelian and Multifactorial Inheritance. Science 2001; 293, 2213-2214
Suggested reading
1. The human genome. Nature 2001; 409: 745-964.
2. Strachen Tom and. Read Andrew P. The Human Genetics. BIOS Scientific Publisher, 1996
3. Kline R M : Whose blood is it, any way? Scientific American 2001; 248: 42-49.
4. Chapella A de La : The land between Mendelian and Multifactorial Inheritance. Science 2001; 293, 2213-2214
S K Bhattacharjee,
Molecular Biology and Agriculture Division, Bhabha Atomic Research Centre
Mumbai, 400 085 E-mail:swapankb@magnum.barc.ernet.in