The Human Genome Project

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.