Professional Documents
Culture Documents
By
Antilkumar Gandhi
Abstract
The Human Genome Project is one of the biggest achievements in the history of
biology. After thirteen years of strenuous efforts by many scientists around the world,
one of the project's goals was accomplished--to map the 3 billion base pairs in human
DNA and to identify the 20,000-25,000 genes in the human genome. Knowledge of the
genetic sequence and the coding of the genes of a human being have implications not just
in biology, but also in the ethical, legal and social realms. Issues of genetic privacy,
genetic engineering, mandatory vs. voluntary genetic screening, gene patenting and many
others have arisen as scientists completed the sequencing of the human genome. In the
discussion that follows, the major ethical, legal and social issues that human society will
undertaken. It was begun in 1990 with funding from the U.S. Department of Energy and
the National Institutes of Health with the goal of discovering all of the 20,000 - 25,000
genes that make up the human genome and of sequencing the entire human genome (over
3 billion base pairs). Additional goals of the Project included storing this genetic
information in databases, improving tools for data analysis and transferring DNA
technologies to the private sector, (About the Human Genome Project, 2/28/09). The
potential benefits that could be reaped from the Human Genome Project research are
wide and varied across all of biology. First and foremost, the benefits will be seen in
medicine, as the age of molecular medicine dawns. There will also be benefits seen in
the environmental sciences sector and in the agriculture and livestock sectors, since
deciphering the genomes of important microbes and plants was also part of the project.
The studies of anthropology, evolution and forensics will also see many applications that
were directly the result of Human Genome Project research, (Potential Benefits of
Human Genome Project Research, 2/20/08). The scientists who started this project
realized that it would not only affect medicine and the biological sciences, but would also
have implications in the ethical, social and legal realm. Therefore, from the outset, one of
the goals of the Human Genome Project was to address these ethical, legal and social
issues that were sure to arise as the project went forward. The human genome was
sequenced in 13 years and the completion of this portion of the Project was announced in
2003, a mere 50 years after the discovery of the double-helix structure of DNA by
Watson and Crick. Now that the human genome has been sequenced and many genes
The Human Genome Project: An Overview of ELSI-4
identified, some of the next crucial undertakings of this Project will involve how we use
One of the first and fundamental questions that have arisen regarding the ethics of
the human genome project has to do with genetic information and who should have
access to it. One of the many hoped-for benefits of the Human Genome Project is a great
advance in our medical understanding of disease. Medical science is finding that many
of our most intractable diseases (e.g. cancer) have some genetic basis. Screening for
diseases that have a genetic basis in adults with their informed consent is seen as ethically
permissible, (Carroll and Ciaffa, August 2003). Indeed, genetic screening for breast
cancer and Huntington's disease are already available as part of medical practice. But
ethical questions can arise when a test comes back positive for a certain gene. In the case
of breast cancer, being positive for one of the breast cancer genes indicates an increased
probability of breast cancer in the woman being tested. It may also indicate an increased
risk in women genetically closely related to her, such as her mother, sisters, maternal
aunts and daughters. The woman who tested positive for the gene would have to give
informed consent in order to have the testing done, but what about the rights of her
female family members? Do they have a right to know the results of that test? Would a
doctor or laboratory be obligated to inform these relatives of the results? What if the
woman who was tested does not want to disclose the results to her family members?
Does a person's right to genetic privacy supersede the rights of family members who may
also be affected by the test results? As illustrated in this example, genetic screening for
diseases in adults with informed consent of the patient can still lead to an ethical and
Genetic screening for disease in newborns and children is fraught with its own set
of complications. The parents would have the right to give consent for testing on behalf
of their children, but there are many genetic testing procedures that are done on newborns
without the express consent of the parents. Justification for this kind of screening is
based on the assumption that the parents would want to know about potentially life
threatening conditions that a newborn may have. The classic example of this is universal
testing for phenylketonuria (PKU) done at birth. This is a very serious disorder that can
be easily treated if discovered and treatment begun within the first few days after birth.
acceptable, it does set a potentially dangerous precedent. New genetic tests will be
discovered and may be done without parental consent at birth. Some tests may be for
urgent disorders that need immediate diagnosis and treatment such as PKU. But others
may not be so urgent or may involve diseases without clear-cut choices for treatment or
without any treatment. Some parents may object to newborn screening in certain cases
where they would not wish to pursue treatment. The rights of the parents to make
decisions regarding genetic testing for their child have to be considered. Conversely, the
rights of the child also have to be safeguarded. Should a parent be allowed to decide if a
child has the gene for a certain disease that has its onset in adulthood (e.g. Huntington's
disease? Should parents be allowed to decline gene testing for diseases like PKU, which
require early diagnosis and treatment? The rights of parents to make decisions for their
child will have to be further elucidated in this new age of genetic screening.
Many questions about the distribution of genetic information arise in places such
as the U.S. because of the structure of its healthcare system. In the United States, with its
The Human Genome Project: An Overview of ELSI-6
employer-provided healthcare system, many players are involved besides the individual
and their doctor. Does an employer, who provides the health insurance, have the right to
know the employee's genetic information? Most people who are asked this question
would say no, only the individual involved has the right to their own information. But
the point of view of the employer may be vastly different. For example, suppose an
employee tested positive for a gene that increases that person's risk for developing a
certain type of cancer in the future. From the employer's perspective, having an
employee with an increased risk of health problems and greater need for medical care is a
liability. The increased cost of paying for that individual's health care premiums as well
as increased use of sick time and medical leave would have a negative impact on the
employer's profitability and productivity. An employer could argue that they have the
right to know the genetic profiles of their employees, perhaps even before they hire them.
Genetic privacy advocates warn that genetic screening may be used in the future to
determine employability.
health insurance company itself. Genetic testing is becoming more and more common as
new diseases and new genes for those diseases are identified. It will increasingly become
insurance companies pay for the tests ordered by the doctor. If the insurance company is
paying for the genetic testing, do they have the right to know the results? If the results
indicate a person has an increased risk of disease due to their genetic profile, what can the
health insurance company do? Can they use the results to determine whether or not they
will continue to provide health insurance to that person? Or can they deny coverage for
The Human Genome Project: An Overview of ELSI-7
that person based on a "pre-existing condition"? Life insurance companies may also see
genetic testing as the next step in determining policy rates and determining eligibility for
life insurance policies. Most life insurance companies already require physicals, blood
tests and urine samples before determining eligibility. Genetic screening for disease is
the next logical step in risk stratification for life insurance companies (Carroll and Ciaffa,
Aug 2003). These ethical dilemmas will continue to present themselves more frequently
President Bush, (Genetics Privacy and Legislation, 9/16/08). This new law forbids U.S.
profile. Insurance companies may not reduce coverage or increase premiums based on
genetic testing. Employers cannot make hiring decisions based on a person's genetic
code. Neither group can ask for or demand genetic testing. It had been the practice of a
small percentage of those also required genetic testing prior to being hired, but now that
has been outlawed by GINA. This act was passed by Congress to encourage people to
coverage. It was the belief of Congress that the more genetic testing that could be done,
the faster the pace of research into genetic diseases and treatments. Previous laws
Disabilities Act was used prior to GINA to protect against genetic discrimination by
discrimination by employers and insurers. It is also broader in scope in that it covers all
Thus far, only the ethical questions that arise from voluntary genetic screening
have been discussed. The specter of mandatory genetic screening of the population
creates a bigger ethical, legal and social dilemma in many ways. Many people might
think that mandatory genetic testing could only be the stuff of science fiction movies, but
it is already starting to happen. In Iceland in 1998, the government passed a law enacting
the creation of a national health database of "all Icelandic peoples' genealogical, genetic
and personal medical information," (Hlodan, June 2000). The Parliament of Iceland
passed this law because they believed that the entire population's genetic information
could yield insights into genetic and inherited diseases and could facilitate the
development of gene therapy. The genetic research is not carried out by the government
but by a private company called deCODE Genetics, which was given an exclusive
researchers, studying the Icelandic genome is ideal for several reasons. The size of the
population is only about 275,000 people, detailed individual medical records already
exist, extensive genealogical records already exist and can account for 80% of the
population, and lastly, the remoteness of the society from other countries and peoples has
Iceland is almost ideal. But there is opposition to this project because of ethical, legal
and social concerns. Firstly, the existence of genetic database can violate an Icelander's
The Human Genome Project: An Overview of ELSI-9
genetic privacy. The information in this database could potentially be abused. Secondly,
this project does not require the consent of the Icelandic citizen to collect their genetic
information. No Icelander can "opt-out" of this project. This is mandated by the law
passed in the Icelandic Parliament. Thirdly, a private company has a monopoly on the
information in the database and can commercialize the data for 12 years, (Hlodan, June
2000). The Iceland project is a joint enterprise between government and the private
sector that does raise some serious ethical and legal questions. It may also set a
precedent for other future genetic population studies that would wish to use mandatory
genetic sampling.
Mandatory genetic testing is used in a narrow scope in the U.S. as well. In the
identification. Suspected criminals can and are ordered through the court to provide
DNA samples to authorities. There is a consensus among legal scholars that this is an
ethically and legally permissible practice, but as the power of genetic testing grows, there
are dangers involved. A relatively new field called behavioral genetics (or behavioral
genomics) is emerging that links certain behavioral traits to certain genes; for example, a
conceivable that in the future, forensic DNA testing will not be limited to fingerprinting
but to genetic screening for certain genes that are related to behavior. A suspected
criminal who is positive for the "violence" gene may be considered as more likely to have
committed the crime. This approach to behavior and genetics discounts the influence of
gene, a "homosexuality" gene, as well as the above mentioned "violence" gene. While
there is a genetic component to certain human behaviors, scientists and laypeople alike
must not overemphasize this importance. The Human Genome Project research seemed
to have tipped the scales in the age-old conflict of nature vs. nurture toward nature.
popular, especially in the lay press, but it is too simple to explain something as complex
Now as we are identifying more and more genes for many different traits, the
possibilities of gene therapy and genetic manipulation are coming closer to reality. The
term "genetic engineering" is very general. There are many types of genetic engineering
that can possibly be done, each with its own set of ethical implications. There is a
difference between somatic cell interventions and germ cell interventions. Somatic cell
engineering involves only one individual's own cells, and any changes made to somatic
cells would be limited to that person. Germ cell interventions, on the other hand, alter
reproductive cells, which mean the interventions will carry on down the generations for
the individual undergoing the intervention. Somatic cell interventions are generally not
ethically problematic because the effects are limited to the single individual and
The Human Genome Project: An Overview of ELSI-11
generation. Germ cell interventions are more ethically problematic because they affect
more than one individual and one generation, but they are more efficient at treating
disease, eliminating the possibility of a particular disease for generations to come. But
caution is still warranted due to possible unforeseen consequences with the germ cell
germ cell interventions, but with the goal of curing or ameliorating disease. It is more
genes such as height, eye color and intelligence. Manipulations such as these have no
medical purpose, and therefore, carry many risks, some unforeseen. In the case of
multifactorial traits such as intelligence, which can have a genetic basis but also has a
carry the risks but may not yield any benefits. The most ethically and socially
(Carroll and Ciaffa, August 2003). An enhancement of this type might be future parents
who want to pick the hair color of their future child. Ethically, this would not be
permissible because the parents would be exposing this future child to the risks
associated with the enhancement without any clear medical benefit. It would also be
ethically problematic because the parents are making choices for a child who is not born
or not even conceived. In society, this kind of genetic manipulation of children has
mostly invited disapproval rather than enthusiasm, and most likely would not be socially
acceptable.
The Human Genome Project: An Overview of ELSI-12
One unique and controversial aspect of ethical, legal and social issues regarding
the Human Genome Project is the idea of patenting a gene. Biotechnology companies
want to patent a gene or genetic sequence that was discovered as part of the project. A
exclusive right to control the use of his/her invention for the next 20 years. There are
general criteria that must be met before a patent can be issued: the invention must be
"useful"(the inventor must identify a practical purpose for it), "novel" (not known
in the relevant field) and must be described in enough detail that someone skilled in the
relevant field could use it for its stated purpose, (Genetics and Patenting, 9/16/08).
Patents are not granted for simple discoveries, (Meek, November 2000). Many scientists
would argue that genes are pure discoveries and therefore do not meet the criteria to
obtain a patent. Biotechnology companies argue that patents are needed in order to allow
firms to recoup their initial capital investment in identifying these genes. The companies
that are trying to patent promising individual genes or gene sequences are doing so in
order to develop exclusive rights to future research on that particular section of the
human genome. For example, if one of these companies identifies the gene for Disease X
and can then patent that gene, they can be free to develop a gene therapy for Disease X
without fear of competition. The biotechnology companies argue that without gene
patents, there would not be enough research money invested in developing gene
therapies. Opponents of gene patenting argue that gene patents would actually be an
impediment to medical research, as no one besides the patent holder would be able to
pursue research on that particular gene. Opponents of gene patenting also argue that it is
The Human Genome Project: An Overview of ELSI-13
not in the public interest to place control of research and development of gene therapies
in the hands of a few, and therefore, should not be allowed, (Mayer, November 2002).
The Patent Offices of different countries around the globe are struggling and will
continue to struggle with these issues as they evaluate gene patent applications.
The Human Genome Project: An Overview of ELSI-14
Conclusion
The Human Genome Project is one of the most ambitious undertakings ever done.
Completed in 2003, we are only now beginning to address the ethical, legal and social
implications that invariably accompany a project of this size and scope. Control of an
individual's genetic information is one of the most important issues to arise from the
project. It touches upon our legal values and civil liberties, as well as on our ethical
beliefs. The new field of behavioral genomics is redefining our notion of choice and free
will. The ethics of mandatory genetic screening and genetic engineering will be issues
that we as humans will struggle with for many years to come. The concept of patenting a
part of the human genome is novel and has yet to be widely accepted in the scientific
community. Now that science has unlocked the mystery of the human genome, all of
humanity must struggle to address the ethical, legal and social implications that have
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