By: Julia
Stamps, Justin Wayne
What is the Human Genome Project?
The Human Genome Project is a 15 year effort
coordinated by the Department of Energy and the National Institutes of Health
to search and identify the location and makeup of each of the 80,000 genes in
human DNA. This knowledge will allow
doctors to treat diseases and clone
humans; however there are consequences of such advances in medicine. This paper provides the negatives and
potential benefits of the Human Genome Project. The following examples will help society make an educated
decision as to whether or not the continuation of the Human Genome Project is
morally correct. Some of the potential
negatives of the project include:
insurance and job discrimination, identity crisis, changing nature,
doctors having to change their practice, effecting the future of many families in
a negative way, needing to patient human genes which would be impersonal, and
the question as to where do we draw the line in scientific advancement. Some of the positive benefits include: perfect pro-creation and the ability to reassemble
bad genes that cause diseases into
perfectly functional genes. Because the
eventual decision to continue the Human Genome Project is based on the moral
standing of our society, society should make the final decision. Therefore education on the topic is critical
to fully understand the significance of this fairly new advancement in scientific
knowledge.
To begin, an understanding of what a Genome
is will help realize why it is so important.
A Genome is all the DNA in an organism, including its genes. Genes carry information of the making all
the proteins required by all organisms.
These proteins determine, among other things, how the organism looks,
how well its body metabolizes food or fights infection, and sometimes even how
it behaves.
DNA is made up of four similar chemicals
(called bases and abbreviated A, T, C, and G) that are repeated millions or
billions of times throughout a Genome.
The human Genome, for example, has 3 billion pairs of bases. The particular order of these four chemicals
is extremely important. The order
underlies all of life’s diversity, even dictating whether an organism is human
or another species such as a fruit fly, rice, or yeast, all of which have their
own genomes and are themselves the focus of Genome projects. Using organisms that are related through
similar DNA sequences, we can gain insights from non-human genomes that often
lead to new knowledge about human biology.
Using this information about DNA must have
some practical benefits that can be applicable in society. Knowledge about the effects of DNA
variations between individuals can lead to revolutionary new ways to diagnose,
treat, and someday prevent the thousands of disorders that affect us. As well as providing clues to understanding
human biology, learning about non-human organisms’ DNA sequences can lead to an
understanding of their natural capabilities that can be utilized and applied
toward solving challenges in health care, energy sources, and environment
cleanup.
September of 1998, advisory committees
approved new 5-year goals aimed at completing the Human Genome Project two
years sooner than originally thought in 1990.
The new plan covers fiscal years 1999-2003 and calls for generating a
“working draft” of the human Genome DNA sequence by 2001 and completing the
highly accurate reference sequence by 2003.
The working draft will have almost a complete map of the human genome.
A new goal focuses on identifying regions
of the human Genome that differ from person to person. Although the large portion of our DNA
sequences are the same - scientists estimate that humans are 99.9% identical genetically
- these DNA sequence variations can have a major role on how we react to
disease; environmental insults, such as bacteria, viruses, and toxins; and
drugs and other therapies. Other goals
outlined in the plan deal with exploring the function of human genes using
methods that include comparing human DNA sequence with those from organisms
such as the laboratory rat and yeast; addressing the ethical, legal, and social
issues surrounding genetic tools and data; developing the computational
capability to collect, store, and analyze DNA data; and developing interdisciplinary training programs for future
genomics scientists.
In 1990, the Human Genome Project began as
a $3 billion, 15 year effort to determine the sequencing of the 3 billion DNA
building blocks that underline all life’s diversity. The first five year plan, originally intended to guide research
in FY’s 1990-1995, was revised in 1993 due to a pleasant surprise in progress,
and the next plan outlined goals through FY 1998. The third and newest plan was developed during a series of individual
and joint DOE and NIH workshops held over the past two years. If successful, the completion of the human
DNA sequence on 2003 will coincide with the 50th anniversary of Watson and
Crick’s description of the fundamental structure of DNA. The analytical power arising from the
reference DNA sequences of entire genomes and other genomes resources is
anticipated to jump start what has been predicted to be the “biology century”
by observers as diverse as Microsoft’s’ Bill Gates and United States President
Bill Clinton. Already revolutionizing
biology, Genome research provides a vital thrust to the increasing productivity
and pervasiveness of the life sciences.
Current and potential applications of Genome research address national
needs in molecular medicine, waste control and environmental cleanup,
biotechnology, energy sources, and risk assessment.
Many lofty goals have been set in order to
give the public a viewing of the possibilities that seem to be almost
endless.
1)
As for human
DNA sequencing, finishing the Genome sequence in humans be the end of
2003. Finish one-third of the human DNA
sequence by the end of 2001. Achieve
coverage of at least 90% of the Genome in a working draft based on mapped
clones by the end of 2001. Make the
sequence totally and freely accessible.
2)
Continue to
increase the throughput and reduce the cost of current sequencing
technology. Support research on novel
technologies that can lead to significant improvements in sequencing
technology. Develop effective methods
for the advanced development and introduction of new sequencing technologies
into the sequencing.
3)
Develop
technologies for rapid, large-scale identification and/or scoring of single
nucleotide polymorphism's and other DNA sequence variants. Identify common
variants in the coding regions of the majority of identified genes during this
five-year period. Create a SNP map of
at least 100,000 markers. Develop the
intellectual foundations for studies of sequence variation. Create public
resources of DNA samples and cell lines.
4)
Generate sets
of full-length cDNA clones and sequences that represent human genes and model
organisms. Support research on methods
for studying functions of nonprotein-coding sequences. Develop technology for comprehensive
analysis of gene expression. Improve
methods for Genome-wide mutagenesis.
Develop technology for large-scale protein analyses.
5)
Complete the
sequence of the roundworm C. elegans Genome by 1998. Complete the sequence of the fruitfully Drosophila Genome by
2002. Develop an integrated physical
and genetic map for the mouse, generate additional mouse cDNA resources, and
complete the sequence of the mouse Genome by 2008. Identify other useful model organisms and support appropriate
genomic studies.
6)
Examine
issues surrounding the completion of the human DNA sequence and the study of
human genetic variation. Examine issues
raised by the integration of genetic technologies and information into health
care and public health activities.
Examine issues raised by the integration of knowledge about genomics and
gene-environment interactions in non-clinical settings. Explore how new genetic knowledge may
interact with a variety of philosophical, theological, and ethical
perspectives. Explore how racial,
ethnic, and socioeconomic factors affect the use, understanding, and
interpretation of genetic information; the use of genetic services; and the
development of policy.
7)
Improve
content and utility of databases.
Develop better tools for data generation, capture, and annotation. Develop and improve tools and databases for
comprehensive functional studies.
Develop and improve tools for representing and analyzing sequence
similarity and variation. Create
mechanisms to support effective approaches for producing robust, exportable
software that can be widely shared.
8)
Nurture the
training of scientists skilled in genomics research. Encourage the establishment of academic career paths for genomic
scientists. Increase the number of
scholars who are knowledgeable in both genomic and genetic sciences and in
ethics, law, or the social sciences.
While these goals for the basis for all
research on the Human Genome Project, we are primarily interested in the
Ethical, Legal, and Social Issues (ELSI) of this project. The U.S. Department of Energy (DOE) and the National Institutes of Health
(NIH) have given 3% to 5% of their annual HGP budgets toward studying the
ethical, legal, and social issues surrounding
availability of genetic information.
This represents the world’s biggest bioethics program, which has become
a model for ELSI programs throughout the world..
Serious study is now under way on the
ethical, legal, and social issues (ELSI) related to increasingly rapid progress
in understanding human genetics. Four areas were identified by advisers to the
ELSI program for initial emphasis: privacy of genetic information, safe and
effective introduction of genetic information in the clinical setting, fairness
in the use of genetic information, and professional and public education. The
program gives strong emphasis to understanding the ethnic, cultural, social,
and psychological influences that must inform policy development and service
delivery. The goals are: continue to
identify and define issues and develop policy options to address them; develop
and disseminate policy options regarding genetic testing services with
potential widespread use; foster greater acceptance of human genetic variation;
and enhance and expand public and professional education that is sensitive to
sociocultural and psychological issues.(Meslin 292)
While recognizing that genetics is not the
only factor affecting human well-being, the NIH and DOE are acutely aware that
advances in the understanding of human genetics and genomics will have
important implications for individuals and society. Examination of the ethical,
legal, and social implications of Genome research is, therefore, an integral
and essential component of the HGP. In a unique partnership, biological and
social scientists, health care professionals, historians, legal scholars, and
others are committed to exploration of these issues as the project proceeds.
The ELSI program has generated a substantial body of scholarship in the areas
of privacy and fair use of genetic information, safe and effective integration
of genetic information into clinical settings, ethical issues surrounding
genetics research, and professional and public education. The results of this
research are already being used to guide the conduct of genetic research and
the development of related health professional and public policies. The ELSI
program has also stimulated the examination of similar issues in other areas of
the biological and medical sciences.
Continued success of the ELSI program will
require attention to the new challenges presented by the rapid advances in
genetics and its applications. As the Genome project draws closer to completing
the first human Genome sequence and begins to explore human sequence variation
on a large scale, it will be critical for biomedical scientists, ELSI
researchers, and educators to focus attention on the ethical, legal, and social
implications of these developments for individuals, families, and communities.
Finally, providing the foundation for all
of these explorations is the goal of examining how the understanding and use of
genetic information are affected by socioeconomic factors and concepts of race
and ethnicity.
The
major ELSI goals for the next 5 years are:
a)
Examine the
issues surrounding the completion of the human DNA sequence and the study of
human genetic variation.
b)
Examine
issues raised by the integration of genetic technologies and information into
health care and public health activities.
c)
Examine
issues raised by the integration of knowledge about genomics and
gene-environment interactions into nonclinical settings.
d)
Explore ways
in which new genetic knowledge may interact with a variety of philosophical,
theological, and ethical perspectives.
e)
Explore how
socioeconomic factors and concepts of race and ethnicity influence the use,
understanding, and interpretation of genetic information, the utilization of
genetic services, and the development of policy.
The increasing abilities to manipulate and
analyze DNA are bringing profound changes to society, particularly in
approaches to human health problems, personal identification, and agricultural
development. To reap the benefits and avoid pitfalls inherent in DNA
technology, the general public must have some understanding of DNA, how it is
involved in heredity, and how it works in the cell, as well as the methods used
to analyze and manipulate it. With complex genetic concepts and discoveries
coming at an ever-increasing pace, what the lay person understands or believes
to be true now will help determine how such scientific advances are evaluated and
whether they are accepted by the public or not. Clearly, education is the key.
Education in the United States faces a
number of challenges in promoting science literacy for the public, students,
and teachers. Some public high schools do not offer a course in biology, and
most high school and many college science teachers received their degrees
before DNA technology was added to the college curriculum. Confident,
enthusiastic, and knowledgeable teachers are desperately needed at all levels
to convey the latest information on genetics and molecular biology to the first
generation that will be influenced by the new genetics and the technologies
springing from it.
One of the most efficient ways to foster
productive interactions and update educators is to provide them with short
courses and workshops in molecular genetics. Several educational programs
sponsored by the Human Genome Project have developed effective, field-tested
workshops for just this purpose. In addition, many scientists in public and
private institutions serve as resources for the general community and help
teachers understand molecular genetics and obtain necessary equipment,
supplies, and know-how to incorporate Genome technology into everyday classroom
teaching.
The Good, the Bad, and the Educated
The Human Genome Project is forcing society
to consider moral and ethical questions.
On one hand it will save the lives of many individuals. However, alternatively it can affect
people’s lives in a negative fashion.
While there are obvious advantages to be gained from the HGP, such as
allowing everyone to have children, the setbacks ultimately seem to outweigh
the potential benefits.
The HGP mainly appeals to people because it
offers a “potential alternative for infertile couples to have children.”(Voelker,
332) This could be considered an
advantage because there are many families in the United States who cannot
conceive and bear children.
Additionally, doctors would be able to change a child's gentic makeup
which could potentially save many lives.
Many doctors argue that “right now, we wait for people to get sick so we
can treat them with surgery or drugs.
Once you can make a profile of a person’s genetic predisposition to
disease, medicine will finally become predictive and preventative.”(Jaroff
3) With this knowledge, diseases such
as cancer and Huntington’s can be treated immediately and effectively. However these advantages also have some
potential disadvantages. Many couples
who cannot have children generally adopt; however, completing the human genome
project they will be able to have their own children. As a result of being able to have their own children, adoption
rates might decrease and the percentage of children in orphan homes might
increase. In addition to these setbacks,
such knowledge of disease can be misused; as a result people may discriminate
against individuals whose medical records are imperfect.
Although there seems to be limited small
scale advantages of the project, ultimately there are many major
drawbacks. One example could be
insurance and job discrimination. According
to Leon Jaroff: “if diagnosis for
disease genes becomes commonplace...and if individual genetic profiles become
available, it would be harder to find jobs or get insurance because of the
risks.”(Jaroff 62) This discrimination
could lead to segregation of classes.
As a result of this discrimination, many capable people could be left
with no jobs and no health insurance after they have been diagnosed with a 75%
chance of contracting cancer at age 40.
This could be a major concern to people who have genetic diseases in
their family because it could change their children’s future as well as their
own.
Knowledge of genetic disease could also
increase abortion rates. Parents will
be informed as to whether their son or daughter will have any serious genetic
disorder, and as a result, the parents may opt to abort the fetus. We see this problem today because doctors
can determine whether children will have physical disabilities. Based on this information, parents may abort
disabled children because they fear that such children would be victims of
discrimination. This practice of
aborting children for fear that they would be victims of discrimination may
increase with gene research because “the Human Genome Project aims to complete
the DNA map, and to locate hundreds more physical and developmental
attributes.”(Hershey 31) More
circumstances may arise where parents could opt to abort the fetus. It seems that society is trying to perfect
itself so everyone will be equally perfect, yet by perfecting humans or
aborting non-perfect fetuses, we may be reinforcing segregation because “the
reproductive choices we all seek to defend can conflict with efforts to promote
acceptance of people with disabilities.”(Hershey 31)
If the HGP discovers and locates hundreds
of physical and developmental diseases before a child comes to life, doctors
will have to change the way they practice medicine because they will have to
treat preventative illnesses. As a
result of this change, doctors may be more at risk for malpractice;
specifically, they may be sued for giving faulty genetic advice or failing to
provide proper information about known genetic diseases. In The New Genetics, Jaroff gives an
example of a typical case that many doctors might have to deal with because of
advances in the HGP.
A
New York couple has a child with polycystic kidney disease. The child dies five hours after birth. Following the autopsy, the parents are
reassured that their risks are not increased for having a similarly affected
child in a future pregnancy. Litigation
begins after their second child was born with the same disorder and later
succumbed at 2 years of age. Their
physician had failed to recognize that this particular kidney disorder was
inherited as an autosomal recessive condition and that their risk in each
subsequent pregnancy was 25%. (6)
This case suggests that physicians will
have to become knowledgeable enough about genetics to decide when to refer a
patient to a medical geneticist. In
order to gain such knowledge doctors may have to go back to school and learn
more about preventative medicine; consequently, doctors will have to put their
practice on hold. This will have a
profoundly negative effect on doctors because there will be too much
information to remember, and many may not be able to put their practice on hold
for several years while going to school.
Another negative possibility of the HGP may
be loss of identity because “cloning threatens confusion of identity and
individuality, even in small-scale cloning.”(Kass 21) We would be transforming procreation into manufacturing; humans
“will be products of human will and design,”(Kass 21) not products of two
adults. This method of human design
seems dehumanizing and unnatural, and society may have problems handling this
situation. Kass likewise believes that
it is dehumanizing and unnatural to clone humans because “scientists...will be
engaged in instrumental making; humans will be designed as means to serve
rational human purposes. In human
cloning, scientists and prospective parents would be adopting the same
technocratic mentality to human children:
human children would be their artifacts.”(Kass 23) A related consequence of cloning humans
could end life’s natural tendency to give individuals unique
characteristics. As a result, people
may become increasingly similar to one another.
Not only would the HGP change individuals’
perceptions of themselves, but it would also alter the traditional method of
reproduction. Instead of “sexual reproduction--by which I mean the
generation of new life from two complementary elements, one female, one male--established
not by human decision, culture of tradition, but by nature,”(Kass 21) reproduction would be altered so that
parents could design their own children.
As mentioned in the previous paragraph, the HGP may interrupt nature’s
way of making everyone unique and it could have a profoundly negative effect on
the meaning of sexual reproduction, because this would no longer be necessary
to have children. Many people would
agree that asexual reproduction, such as bacteria, may be considered as the
lowest forms of life. Kass supports my
argument by emphasizing that bacteria are a “lower” form of life. He describes them as: “bacteria, algae, fungi, and some lower
invertebrates.”(Kass 21) We may be
added to the list if the HGP becomes successful. As a result of becoming asexual, there would be no need for
sexual intercourse. This may be
disturbing because “sexuality brings with it (children) a new and enriched
relationship to the world.”(Kass 21) If
the HGP continues, we could lose the meaning behind sexual reproduction. As a result, we may lose the intimacy
between couples because sex would no longer be regarded as the “making of a
miracle.”
Another problem that could arise from the
HGP is the need to patent humans. If we
decide to discontinue sexual reproduction and manufacture future generations by
genetic engineering, we would need to have "good" genes (genes that are considered popular) ;
consequently, we would need to ask permission to use such genes from different
people. For instance, if a family
wanted an athletic child and they wanted their son or daughter to be a
basketball player, they could use the genes of Michael Jordan to make their
offspring tall. Now the problem comes
down to Michael Jordan and whether or not he should patent his height
genes. If he doesn’t patent the genes,
then everybody may want to use them because they want to be like Mike. The only alternative may be to patent his
genes so there won’t be hundreds of Michael Jordans running around. On the other hand, “the practice of
patenting human genes treats persons as property, thus the practice of
patenting is morally wrong.”(Rensik 50)
There seems to be no way out; we either have to patent genes or have
hundreds of duplications, such as many Michael Jordan’s. Not only could we be disrupting nature’s
method of generating different traits that may be beneficial for each individual,
but we could be altering the lives of individuals who have desirable traits
since they will be bombarded with requests for their genes. Just as the HGP may affect certain
individuals, the HGP may also affect a full genealogy. The HGP will have the capability not only to
change one person, but also that person’s future family members. The HGP has been “characterized as a public
good in the best sense because its principal goal is to assist biomedical
researchers in their assault on disease.”(Gundia 2158) This means that an individual can later one
of his genes so that future generations in his family would avoid contracting
that genetic disease. This also means
that one person may affect the lives of hundreds; unfortunately, those whose
lives may be affected have no say in their future appearance and health. Another area of concern is that “DNA
analysis provides information not only about specific individuals, but also
about their families”(Lambert 382); as a result, if an individual wanted to analyze
his or her DNA structure, that specific information would encroach on the
family’s privacy. In response to all
this, “the question is where do we draw the line?”(Springer interview)
The question addresses a concern that many
share. Voelker agrees with Springer,
asking: “Where do we draw the line in a
series of humanly created processes of procreation that are getting farther
away from natural procreation?”(Voelker 331)
New advances in scientific technology keep coming, and one day we are
going to have to deal with the problems that come from this technology. If the HGP succeeds, new technology can
arise from its research. One day we may
have to say “no” to the new advances because the advances will get out of
hand. Saying no may be more beneficial
to the human race than continuing with new research, because we would no longer
have to deal with moral dilemmas like those created by the HGP. Kass supports this theory by writing that
“the good things that men do can be made complete only by the things they
refuse to do.”(Kass 336) In trying to
answer this question “where do we draw the line?” it may be wise to open it to
public discussion. In this case, the
public must be educated regarding the HGP.
In efforts to educate the public, the
government has set up special web sites with information regarding the
frequently asked questions, progress, and history of the HGP. The researcher must take into consideration
that some of the publications, especially done by the HGP staff, may be
extremely biased. Gundia agrees by
stating in his work:
The
HGP has characterized the Genome project as a public good in the best sense
because its principal goal is to assist biomedical researchers in their assault
on disease. However, the plan to map
and sequence the human Genome has also raised a number of ethical concerns.
(2158)
Gundia’s
citation makes it clear that there may be a bias in certain works because the
HGP wants to make the project seem beneficial.
Consequently, the researcher may want to thoroughly examine many
different types of articles to get a representative sample of ideas and
opinions about the project. Society has
a chance to debate this issue and Voelker agrees: “it’s rare that society gets a real opportunity to debate an
issue such as this at this stage. Here,
we have the opportunity to debate.”(Voelker 332) This project seems to have a profound effect on the public; as a
result, the public should make the decision.
It will take a real effort by communities to search for the morally
correct answer as to whether or not the project should continue. Griffiths states that “ignorance or
rejection of new knowledge often leads to closed mindedness and bigotry”(Griffiths
230); therefore, society should take an aggressive approach to studying the
implications of the program. If the program
is successful, society must be ready to set up guidelines and laws as to how
the HGP will fit into society in a positive way. In order to do so, society must first be educated about the good
and the bad aspects of the HGP.
To educate the researcher regarding the
HGP, it seems appropriate that this paper address some of the government’s
attempts in organizing the legal aspects of the project. Right now the primary program to assist in
the Project’s legal aspects seems to be the ELSI Program. Other studies have been conducted, some
guidelines have already been established.
One of the studies was a two year multidisciplinary investigation which
analyzed several questions concerning the ethical and moral issues of the
HGP. The two year investigation
concluded that:
Mandatory
genetic screening must be rejected, but facultative screening is acceptable
under some conditions. The concept of
normality is not useful for defining the ethical criteria of genetic screening,
because of its historical and cultural variations among societies. DNA analysis provides information not only
about specific individuals but also about their families; therefore, that
information must be handled differently from other medial data.(Lambert 382)
These
rules may help control the HGP; however, society may fail to follow to these
rules! If society does fail to follow
these guidelines, there could be many accidents and consequences. The results of disobeying the rules may be
similar to underage drinking and driving accidents because people neglect the
law and as a result there are many
negative consequences. Ironically, it
seems as though technology is creating new methods of saving lives, but society
is going to be restricted in its use of the new technology because many of the
advances will be forbidden by law.
Restricting the use of the new technology may create more problems than
it solves.
The HGP seems to represent a new age. It can offer assistance to many people by stopping
diseases, and can offer assistance to couples who want perfect babies; however,
with such technology there seems to be consequences. The project may result in insurance and job discrimination, and
increase in abortion rates, identity crisis, and a change in natural
order. From looking at some of the
researched articles thus far, I feel that the project ultimately has more
disadvantages than potential benefits.
Since this issue involves moral values, it may be wise to have society
determine whether or not the HGP is morally correct. It seems that morals are
different for each individual, and neither the government nor the people
working in the HGP can successfully answer the moral questions without the
public’s thoughts and ideas because morals vary so much that an individual
decision might be biased, whereas a group decision is more likely to take
everybody’s needs into account.
However, before society can make a decision, society must become
educated about the topic. The
government has offered many resources for the society to obtain this knowledge;
it is up to society to find these resources and research the topic. If society concludes that the project will
be beneficial, then it may be necessary to set rules and guidelines to minimize
any kind of abuse. It is important to
remember that America is free and people have the right to vote for what they
believe. So society should feel free to
express their personal concerns and standards as to where the line should be
drawn.
Works Cited
Griffiths,
Anthony. “What Does The Public Really
Need to Know About Genetics?” AJHG
52 (1993): 230-232.
Gundia,
Phil. “AAAs Conference Explores Ethical
Aspects of Large Pedigree Genetic Research.”
JAMA 267 (1992): 2158.
Hershey,
Laura. “Choosing Disability” Ms.
Magazine July/August
(1994): 26-32.
Jaroff,
Leon. The New Genetics: The Human Genome Project and Its Impact on the Practice of Medicine. Tennessee: The Grand Rounds. 1991.
Kass
Leon. “The Wisdom of Repugnance.” The New Republic Journal 2 (1997): 18-26.
Lambert,
R.D. “Genetic Testing, Screening, and
Biological Samples Banking.” AJHG 55 (1994): 382.
Meslin,
Eric. “Bioethics Inside the
Beltway.” KIEJ 3 (1997):
291-298.
Resnik,
David. “The Morality of Human Gene
Patents.” KIEJ 1 (1997):
43-61.
Springer,
Matthew. Interview. “Genetics.”
Ph. D., Dept. of Molecular
Pharmacology, SUMC. 5 May, 1998.
Voelker,
Rebecca. “A Clone By Any Other Name is
Still an Ethical Concern.” JAMA 271
(1994): 331-335.