Human Genome Project

The first discussions on the Human Genome Project (HGP) go back to the 1980s whe
n the U.S. Department of Energy held a workshop to evaluate the available method
s for detecting mutations during which disclosed the idea of mapping the human g
enome. In the same period was created in France the Centre d'Etude du Polymorsph
isme Humaine (CEPH - Centre for the Study of Human Polymorphism). This center co
llects blood samples and tissues from extended families and became the leading s
upplier of material for the development of linkage maps made by Généthon. The
idea of mapping the genome arose from the beginning a series of controversies. F
or many researchers it was at the time of a project unfeasible. For others there
was no point in mapping the genome because infomações obtained would be stagg
ered and not worth the effort. On the other hand, some researchers saw that oppo
rtunity the chance to transform biology (and specifically genetics) in big scien
ce, with the right finance giant and wide dissemination. The project was launche
d in the U.S. four years later, sponsored by the NIH (National Institutue of Hea
lth) and the DOE (Department of Energy). The proposal was to map the entire gene
tic heritage of mankind. Then laboratories in Europe, Japan and Australia joined
the project. Then came an international coordinating body called HUGO (Human Ge
nome Organization), to tune the job and organize the knowledge acquired in a cen
tralized database, the Genome Database. Its president of HUGO, H. Van Ommen said
in 1998 that the mission of HUGO was to facilitate and coordinate the overall i
nitiative of mapping, sequencing and functional analysis of the human genome and
promote the application of this knowledge to improve human health. In the final
phase of his first mission the HUGO assumes his next role for the dissemination
of the functional analysis of the genome and to provide responsible guidelines
for the applications and implications of the genome. From his earliest years the
project was characterized by a mixture of exaggerated optimism, fights between
different groups of participants and notable technical and scientific advances.
According to Jordan (1993) The real purpose of the original HGP were not sequenc
ed, very complex, expensive and difficult, but a detailed mapping of the human g
enome. In the process of technological were so large that led the sequencing eve
n before the deadline. Anyway mapping and sequencing was not the French strategy
. The Germans have always been more reticent about the project. The budget for t
he project was U.S. $ 53 billion and the aim was to map all
genes and 3.6 x109 base pairs in the human genome by 2005. A percentage of 5% of
the money was intended to ethical, social and legal issues, addressed by the EL
SI program (Ethical, legal and social). Currently the project occurs worldwide,
including Brazilian participation, involving over 5,000 scientists in 250 labora
tories. Perhaps the greatest evidence of international cooperation is the linkag
e map developed by Généthon, French laboratory maintained in part by relatives
of patients with myopathies. This cooperation is not always easy. Problems of f
inancing the project and other issues as conflict of interest among researchers
constantly threaten the integration and always raise the possibility of centrali
zation of the research. For Shattuck (1998) recommend a free analysis review of
procedures, priorities, funding and supervision. As an example of what happens,
we can mention the competition from more than 30 laboratories for the discovery
of the Fragile X in 1991. Finally, the French article sent to Science on 10/25/1
990 and 15/02/1991 was published in English article sent in a Cell was published
on 15/01/1991 22/02/1991. To Jordan (1995) the project should avoid this type o
f waste that results from an excessive distance from researchers about the conse
quences of their work. In that sense patients' associations play a key role, con
fronting scientists with the daily reality of the disease as well as the needs o
f the patient and his family. You must understand that the scientific developmen
t also lives of wavering, but, as Garcia (1994) means that we should strive to p
revent the misuse of knowledge and minimizing the distance between bioethics and
scientific progress. PGH are attached to various other projects genomes of expe
rimental organisms such as fruit fly (Drosophila melanogaster) - already finishe
d, the mouse (Mus musculus) and a free-living nematode (Caenorhabditis elegans),
 among many others.€These projects serve to aid the mapping of human genes. In
addition a number of tools and techniques such as PCR (Polymerase Chain Reaction
), YAC (Yeast Artificial Chromosomes), ABI (automated sequencer) CA repeats (din
ucleotide repeats used as markers of gene location), etc. were developed from PG
H needs today and are available for research and diagnostic laboratories are not
directly involved in mapping genes. Brazil has also taken its share of contribu
tion to the project. Apart from isolated initiatives such as the different genes
cloned by the laboratory of researcher Mayana Zatz at USP, a joint initiative o
f FAPESP, Ludwig Institute, UNICAMP, EPM and USP School of Medicine created the
Human Cancer Genome Project. This project uses the same method of sequencing (OR
ESTES) developed in São Paulo for the sequencing of a crop pest, Xillela fastid
iosa. This initiative demonstrates the importance of the project that could brin
g together different institutions, the need for funding and the possibility of h
eavy use of methodologies developed and tested in smaller organisms.
In March 2000, the Ludwig Institute asked the patenting of an oncogene. Led by L
uca Cavalli-Sforza a group of geneticists has launched a parallel project to the
HGP, the Project of the Human Genome Diversity, which aims to study and preserv
e the genetic heritage of human populations. Its goals are related to studies on
human origins and movement of prehistoric populations, adaptation to illness an
d forensic anthropology. These geneticists worry that the "Human Genome" being d
eciphered by the HGP does not match the human genome in all individuals but a po
rtion that is represented in the samples. In fact, the "Human Genome" does not b
elong to an identifiable individual but from various samples used primarily in W
estern laboratories. Supporters of PDGH advocate in favor of differences between
human groups and against the reductionism of the genome of a single type. The i
mportance of studying specific human groups is also recognized by biotechnology
companies such as American Coriell Cell announced that in 1996 the Internet DNA
samples from indigenous Brazilians for sale. That sparked a debate among Brazili
an scientists concerning the storage of DNA from indigenous people and their pot
ential impact business. The goals of the HGP involve improving health and simpli
fied methods of genetic screening, optimization of therapies for these diseases
and prevention of multifactorial diseases. For Pena (1992), the ELSI issues will
converge on the interaction of three elements: the researchers who generate new
knowledge, the business community that transforms this knowledge into products
and stock to absorb and incorporate new knowledge into their worldview and their
social practices, and to consume new products. In this sense Clotet (1995) stre
sses the scientific responsibility, since: scientists should imagine the moral c
onsequences of commercial application of genetic tests. Critics of the HGP argue
that their goals were to treat, cure or prevent disease. For them this is a lon
g way and while their main results are the biotechnology companies commercializi
ng diagnostic kits. For Zancan (1994) genetic mapping for disease also raises qu
estions about its social consequences, given the distance separating the diagnos
is of therapeutic techniques. For her it's time to leave the academic community
in-house discussion and bring to society their concerns about the social control
of new biological technologies, regardless of regulations. We must remember tha
t genetic analysis is not infallible and their data are often misunderstood beca
use of an ideological trend which researchers participate more or less unconscio
usly: a drift that is very easily and quickly from an observation of state-cente
red current health of a person to a diagnosis based solely on analysis of their
genes (Jordan, 1995). For Wilkie (1994) such emphasis on the genetic constitutio
n of humanity can lead us to forget that human life is more than the mere expres
sion of a genetic program written in the chemistry of DNA.
Everyone has a genetic identity of its own and, according to the Declaration of
UNESCO, the human genome is inalienable property of every person and in turn a k
ey component of all mankind. Thus it should be respected and protected as an ind
ividual characteristic and specific because all people are equal when it comes t
o their genes,€after uniqueness and diversity are properties of great value of
human nature (Clotet, 1995). The information from the project should serve to pr
otect the lives and improve health. This may be true in cases where there is an
anticipation of the therapeutic process by anticipating the disease, however car
e must be taken regarding the harmful aspects of this process (Clotet, 1995). To
Annas (19?) Since the tests are voluntary and the results released only with pe
rmission of the individual, the tests based on PGH have a change of degree, not
kind. This is not true if we consider the predictive tests. Jordan (1995) believ
es that "we took a dangerous path, instead of judging an individual by what he i
s today, we inquire about its status as a potential patient (and who is not?) To
treat him as disabled ahead of time and not sure that it will become. " For him
it means the condition set by genotype, which is included in the DNA and no lon
ger by phenotype, the present state of the person. For Khoury (1999) a rapid tra
nsition from gene discovery to integration in clinical practice may result in th
e development and delivery of premature genetic tests. Epidemiological studies a
re needed to validate genetic testing, monitoring its use by the population and
determine the safety and effectiveness of tests in different populations. He pro
poses creating a new discipline, the Human Genome Epidemiology (HUGE), combining
data from genetic epidemiology and molecular epidemiology. Similarly Pena (1994
) suggests the replacement of one paradigm by a typological paradigm population.
At first there are the normal alleles, ideal, perfect and those who are not. In
the second variability is composed of suboptimal mutants and deals with diverse
environments. The phenotype is therefore dynamic and emerges from the interacti
on of genotype as a whole (thousands of genes) with the infinitely complex envir
onment. It is changing the paradigm of monogenic genetic determinism (and danger
ous appealing in its simplicity) by the epigenetic paradigm interactive nondeter
ministic. On the other hand critics argue that the idea spreads PGH panacea with
expansive vocabularies, promises and hyperbolic terms, even in official documen
ts - "the grail of human genetics ... the final answer of the commandment 'know-
thyself' "(W. Gilbert in Shattuck, 1998). The HGP provides comparisons with the
Manhattan Project and the Project Appollo, and transformed biology into big scie
nce, like physics, that is, the notion of a knowledge (or science) unstoppable i
n order to control nature. The popular press took the idea and daily conveys the
promise of the project, such as: "We thought our fate was still in the stars. N
ow we know that in large measure, our fate is in the genes." Several authors poi
nt to a more subtle eugenics, promoted by the HGP to provide tools for testing (
Shattuck, 1998; Annas). Some
project participants, including James Watson believe there is an "extraordinary
potential for human betterment." The question of enhancement and eugenics refers
basically to how much it gives the genetic liability in multifactorial conditio
ns. So mix up the identification and treatment of genetic diseases with other ca
uses of disease (alcohol, drugs, poverty ,...), considering all of the genetic o
rigin and spreading the hope that one day we find a "solution genetics" for thes
e health conditions. Assuming that there are indeed genes of intelligence, genes
responsible for antisocial behavior, genes alcoholics and drug addicts, neuroti
cs genes, genes of infidelity. The question is, how places Ztaz (1994), what can
you do with this knowledge? Clotet (1995) stresses the fact that we do not use
genetic strategies to solve social problems, recognizing a potential risk for th
e emergence of a eugenics movement based on knowledge of the genome. At the same
time we must not give the PGH more importance than it really can be. Take for e
xample sickle cell anemia, a genetic disease is more known and to have its first
gene identified. Note the delay of their research and little involvement of gen
etics in improving the health status of patients and the HGP will not change thi
s situation in the short term because the knowledge of a gene is not a guarantee
of therapeutic advance. Likewise, discrimination of sufferers and abuses that h
ave this disease in the test were not overtake arising from the HGP (Wilkie, 199
4). Anyway, the ethical issues involved remain a matter of debate,€both with re
gard to information obtained regarding the patenting of genes. In 1991 Congress
began consideration of a bill dedicated to the preservation of information conce
rning the human genome (Human Genome Privacy Act). The following year the 44th A
ssembly of World Medical Association meeting in Spain introduced the Declaration
 of Marbella, which held against the patenting of the human genome, requesting g
uarantees against discrimination and basic guidelines to prevent the stigmatizat
ion of populations at risk for genetic diseases. That same year, James Watson re
signed from his post as director of the HGP as being against the patenting of ge
nes. The question of patenting was only resolved in 1995 when the HUGO issued a
statement condemning the patenting of sequences without known function but in fa
vor of patenting the discovery of biological functions of new genes or their app
lications. The argument used was that the project cost is very high and its real
ization would be impossible without the participation of private enterprises, wh
ich are interested in obtaining exclusive rights over their discoveries. This at
titude means that researchers have to sign contracts with companies committing t
hemselves not to disclose their results. In this case the scientific research is
no longer a subject of discussion among scientists to become an industrial esta
te, as happened recently with the asthma gene. A group of researchers in the jou
rnal Science announced the location of a candidate region for asthma gene but di
d not
absolutely no detail about his discovery for contractual reasons. These were als
o the reason that led them to disclose the discovery of the candidate locus beca
use there is a legal requirement to report to the shareholders that a recent dis
covery may have an impact on the valuation of its shares. The concern about the
patenting is as much motivated by UNESCO in a statement that was reaffirmed that
the human genome is inalienable property of the person and the common heritage
of mankind. According to the same document our DNA belongs to us, we have owners
hip and possession but not know its meaning. This is precisely the goal of the H
GP, which finally seems to have been brought forward to 2003. But probably the c
omplete knowledge of the 3.6 x109 base pairs in the human genome is not the end
but the beginning of this process of understanding. What new perspectives on hum
an beings bring the sequencing of the 3 billion base pairs in the human genome?
The most important function is perhaps the project of transcending himself and t
each us, or remember, that genes and genetics are not the fundamental basis of h
uman life. The HGP can redefine our sense of our own moral worth and find a way
to affirm in the face of all the technical details of genetics, that human life
is greater than the DNA that has sprung and that humans retain a value morality
that transcends the sequence of 3.5 billion bases contained in the human genome
(Wilkie, 1994) On March 14, 2000, the U.S. president, Bill Clinton and UK Prime
Minister Tony Blair, called for everything that relates to decode the human geno
me is maintained in public. This means that all scientists have access to the ra
w sequencing the human genome. The trustees proposed that inventions can be pate
nted and exploited economically. The scientist and entrepreneur Craig Venter, a
member of Celera Genomics Corporation, reported in June 2000 that the ability of
your company has already completed the raw sequence of the genome of a single p
erson. During the next months this company will sort the data. Dr. Venter is con
trary to public disclosure and universal data, defending the position that the s
equences, even those not yet aware of the associated functions, can be patented.
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