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The Human Genome Project: An Overview of ELSI-1


The Human Genome Project:

An Overview of Ethical, Legal and Social Issues


Antilkumar Gandhi

History and Methods of Science

Professor Fleming
Winter Quarter 2009
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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

have to face will be addressed.

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The Human Genome Project: An Overview of ELSI

The Human Genome Project is one of biggest scientific endeavors ever

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
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identified, some of the next crucial undertakings of this Project will involve how we use

the information that has been gathered and discovered.

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

possibly legal dilemma.

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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.

While universal PKU screening is generally considered to be ethically and legally

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
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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.

Another party involved in an employer-provided health insurance system is the

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

commonplace in medical practice to do genetic screening for certain diseases. Health

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
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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

as genetic testing becomes the norm.

In an effort to resolve some of these dilemmas and to protect individual rights,

The Genetic Information Nondiscrimination Act (GINA) was passed in 2008 by

President Bush, (Genetics Privacy and Legislation, 9/16/08). This new law forbids U.S.

insurance companies and employers from discrimination based on a person's genetic

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

majority of large U.S. companies to require medical screening of new employees. 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

undergo genetic testing without fear of repercussions in employment or health insurance

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

regarding protection of Americans from genetic discrimination were more limited in

scope. President Clinton signed an executive order in 2000 prohibiting genetic

discrimination in the hiring of workers at federal agencies. The Americans with

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Disabilities Act was used prior to GINA to protect against genetic discrimination by

employers. GINA is a much more comprehensive piece of legislation in that it prohibits

discrimination by employers and insurers. It is also broader in scope in that it covers all

employers in the U.S., not just the federal government.

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

government contract to collect genetic information and create a database. For

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

created a remarkably homogenous population. For research purposes, the population of

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
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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

justice system, DNA fingerprinting in forensics is becoming the gold standard in

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

"violence" gene that supposedly predisposes a person to display violent behavior. It is

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

environmental factors and free will.

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Experts in behavioral genetics recognize this limitation. Human behavior is much

too complex to be solely attributed to a person's genes. Behavioral geneticists "seek to

understand both the genetic and environmental contributions to individual variations in

human behavior,"(Behavioral Genetics, 9/16/08). Genomic research has already

identified a possible "intelligence" gene, an "alcoholism" gene, a "tobacco addiction"

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.

Behavioral genetic determinism, or the "one-gene, one-behavior" theory is no doubt

popular, especially in the lay press, but it is too simple to explain something as complex

as human behavior, which is a product of our most-complicated organ, the brain,

(McGuffin, Riley and Plomin, February 2001).

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
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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

intervention. There is also a distinction made between therapeutic genetic engineering

and enhancement engineering. Therapeutic engineering can include either somatic or

germ cell interventions, but with the goal of curing or ameliorating disease. It is more

ethically permissible than enhancement engineering, which involves manipulation of

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

very important environmental component, enhancement engineering interventions may

carry the risks but may not yield any benefits. The most ethically and socially

problematic type of genetic engineering would be enhancement germ cell interventions

(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

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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

patent is a license granted to an inventor by a government, giving the inventor the

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

previously), "nonobvious" (not an easy improvement made by someone knowledgeable

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
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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.
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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

come with this monumental human achievement.

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