Who Should Receive
Running head: EXAMINING THE IMPLICATIONS OF GENETICS AND PRIVACY
Who Should Receive the Key? The Dilemma of New Genetic Technology and Privacy
Jessica Kaufman
Creighton University
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Abstract
With the capability to sequence each gene that composes an organism and decipher the proteins
resultant from these genes comes a wave of benefits and problems related to the issue of an
individual’s genetic privacy. As the link between genes, disorders, and behaviors are becoming
more defined, the implications for which entities have rights to unique genetic information are
far-reaching. Healthcare providers, insurance companies, employers, the government, families,
and individuals each have a vested interest in genetic information. Current laws influence public
opinion and provide a basis for future regulation formation. The creation of a definition for
genetic information and the maintenance of genetic privacy in an efficacious manner present a
new angle to the flood of technological genetic advances.
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Who Should Receive the Key?
The Dilemma of New Genetic Technology and Privacy
“Who needs to know?”, “Who should have access to this knowledge?”, or “How should
the answers to these questions be regulated?” A few decades ago, these inquiries applied to a
broad range of topics; yet the words “genetic privacy” would not have been the topic of choice
for the average world citizen. With the entrance into society of the results of the Human Genome
Project, however, civilization must now forge a tie between those words and the questions posed
above. As a result of new technology, benefits and problems regarding the wave of personal
genetic information that threatens to flood society must be scrutinized. In doing so, an
examination of what constitutes genetic privacy must be made--including an assessment of what
information is available, what can be known from the raw data obtained through testing, and the
impact upon society the release of this knowledge can have. Genetic information constitutes the
black box of the individual: genetic privacy indicates which people will be given the key to the
contents of the box.
Entities influenced by this technological stride in genetics, and therefore, the potential
positive and negative aspects of it, include the government, healthcare providers, insurance
companies, employers, researchers, families, and the individual. A comprehensive look at this
topic consequently also depicts current legislation connecting privacy to these entities.
Furthermore, suggestions for future proposals regarding how best to integrate new technology
into existing structures--protecting the right of individuals while maintaining the best benefit to
society--come under analysis. All of these issues rise to the forefront of societal consciousness
due to a tiny component of the human being: the DNA that contains unique attributes for every
individual--the DNA that formed the basis for the Human Genome Project.
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DNA, Genetics, and Disorders
At approximately 3.2 Gigabases, twenty-three chromosomes, and 31,000 proteinencoding genes, the human genome presents numerous possibilities regarding tailored
healthcare, identification methods, and takes giant steps into understanding the complexity of the
human being (International Human Genome Sequencing Consortium, 2001). Hidden within the
resultant genome sequence lie components to the formation of human disease and to behaviors:
the “nature” part of an individual. The techniques invented to study this previously unexplored
world--such as a hierarchical shotgun-sequencing technique and the polymerase chain reaction
method for obtaining portions of DNA--presented an opportunity to delve into heredity—keys
into the unique DNA of each human being (Weems, 2003).
Researchers already formed links between a number of genetic disorders and the human
genome utilizing these methods of examination. Genes contribute in a multitude of ways to
behavior and disease. For example, genes may be linked to differences between males and
females or to behaviors resultant from disorders such as bipolar disorder or schizophrenia. A few
well-known disorders claiming a genetic component include Alzheimer’s Disease, various types
of cancer, Huntington’s Disease, and bipolar disorder (Sankar, 2003). These disorders, along
with such conditions as alcoholism and heart disease, represent only a small portion of the
disorders and behaviors targeted by the more than five thousand genetic tests either already
available to society or waiting in the wings (USA Today, 2002).
In most cases, the presence of one or more of these indicative genes does not guarantee
the individual will develop the corresponding disorder. The precise link between environment
and heredity is currently hazy. Yet, knowledge of the possession of one of these genes presents
numerous possibilities for combating disease. In the future, affected individuals could avoid
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certain environmental triggers, opt for genetic alterations, or receive specialized targeted drug
therapy designed specifically for their genetic condition (Johnson, 2003; Miller, 2002). Despite
these benefits, however, a multitude of problems arise when one examines the usage of
knowledge about an individual’s unique genetic makeup. Americans, in particular, traditionally
regard privacy as a key value for society. Yet, genetic privacy presents a whole new spin on
traditional definitions of and protection of privacy.
Defining Genetic Privacy and Genetic Information
The American Heritage College Dictionary (1997) defines privacy as “the quality or
condition of being secluded from the presence or view of others” or “the state of being free from
unsanctioned intrusion” (p.1089). A broad definition of privacy as it pertains to genetics,
therefore, could refer to the amount of personal information regarding an individual available to
persons other than the individual involved (Alpert, 2003). The definition also includes the degree
to which a human being has control over his or her personal information: the right to limit public
knowledge of the intricacies of the genetic components of an individual.
Due to the complex nature of genetic privacy, however, this definition must be altered
slightly to encompass the wishes for the benefits of genetic testing information and the
prohibition of certain uses of the same knowledge (Hustead & Goldman, 2002). The exact
definition of genetic privacy remains unclear (Sankar, 2003), and perhaps largely individualistic
(Alpert, 2003). In addition to a desire for genetic privacy to involve flexibility dependent upon a
situation, the issue of what constitutes genetic information is at stake.
Genetic information refers to any information found within the genetic makeup of an
individual. Some of the unique knowledge of an individual is recognizable without the aid of
genetic testing. Already evident information such as height, eye color, and foot size constitute
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genetic information; yet this same information would rarely fall into a category in need of
regulations for genetic privacy (Sankar, 2003). Referring to genetic information as only resultant
from DNA testing methods also is problematic. This definition excludes tests on genetic byproducts, such as sweat tests (Sankar, 2003).
In addition, the definition of genetic information must be couched in the context of
medical information. Some genetic information already exists within the typical medical
record—family history questions reveal tendencies toward the possession of certain genes
(Alpert, 2003). However, general medical information differs from genetic information in two
main ways, according to Sankar (2003). Medical information refers primarily to current health
issues in the life of an individual; genetic information can transcend the current moment into the
future—not only the future of the individual, but also the future of generations to come. The
second way it ties into the first as it describes genetic information as the “futuristic diary” of a
person (Sankar 2003), especially if nature is considered to have a greater impact than nurture.
One problem in gaining the general public’s input regarding genetic information concerns
the understanding of the degree to which genes influence behavior and disorders. In actuality, the
presence of a gene within an individual’s genetic sequence only refers to a probability of
expression at some point in time. Therefore, genetic testing at the current moment cannot reveal
either the precise severity of the expression (if even detectable) or the time of onset (Alpert,
2003). However, the average person equates gene presence with a surety of expression and
therefore, disorder or behavior—genetic determinism (Weems, 2003). Physicians and other
healthcare personnel are also unsure of the consequences of the revelations of genetic testing;
therefore, education of the entire system and the general population must go hand-in-hand with
the examination of genetic privacy.
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Protecting Individuals’ Rights to Genetic Privacy
In keeping with the definition of both genetic privacy and genetic information, therefore,
an understanding of how to best protect the interests of the individual while best benefiting
society simultaneously must be constructed. This understanding must also reflect the mindset of
the general population regarding the relationship between gene presence and gene expression.
Hustead and Goldman (2002) depict the protection of genetic privacy as containing four
components: (a) access, (b) use, (c) disclosure, and (d) storage/security. Each component
involves numerous entities; each presents an opportunity for regulation, and each presents an
important aspect of the multi-faceted methods of viewing the invasion and maintenance of
genetic privacy.
Access refers to the question represented in the title of this paper: Who should have the
right to view the key information regarding an individual’s genome? In other words, “Who gets
to know? or “Who needs to know?” The number of people who could benefit from knowledge of
genetic testing results is tremendous. For example, insurance companies, employers, researchers,
families, and individuals are all groups that would potentially like to attain access to genetic
testing results. Furthermore, as DNA tests can be performed on numerous body tissues and
fluids, the potential exists for private investigators or anyone else with proper technology to
attain information regarding an individual’s genetic sequence without his or her knowledge
(Healy, 2002). Another issue at stake refers to the timing of access to genetic testing, which also
is included under this broad category. For example, a patient may wish his or her doctor to have
access to genetic information when seeking the reason behind a sign or symptom, yet may prefer
to avoid allowing his or her optometrist or dentist access to the same information.
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The second component to protecting genetic privacy—use--takes into account what those
who have access to the information are permitted to do with the aforementioned knowledge. Into
this category fall the notions of genetic discrimination and non-discrimination. Insurance
companies could use the results of genetic testing as a method of screening its policy-holders,
employers could utilize genetic test results as a component for hiring practices, researchers could
use the information to design new techniques to combat disease or to form general
understandings of the human species, and the individual could benefit from specialized
techniques to combat or prevent the effects of detrimental genes. The first two examples
potentially result in genetic discrimination, one of the primary fears of the general population
regarding genetic testing (Field, 2003).
The third component toward protecting genetic privacy, disclosure, takes into account the
obligation of the individual to inform others regarding test results. This category also includes
the right of those with access to genetic information to share this information with others beyond
the individual claiming the DNA (Hustead & Goldman, 2002). Healthcare providers often share
information regarding patients when patients are transferred between facilities. Should genetic
testing results be part of this medical record transfer?
Disclosure, however, goes beyond the public sector into private life. Genetic information
does not solely affect the individual whose DNA was sequenced and whose genes were linked to
identifiable disorders or behaviors. The possession of a gene linked to a certain behavior or
disorder indicates a hereditary component. Therefore, knowledge regarding the possession of a
certain gene is of use not only to the individual, but also to family members (Sankar, 2003).
Therefore, disclosure also refers to the rights of family members to be told of findings.
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The consequences of replying yes to the question of the obligation to inform family
members are also far-reaching. For example, the family member may also have the right not to
know—the identification of a gene within a family structure affects every member within it.
Some individuals may wish to not know the likelihood of possessing a gene that could lead to a
debilitating disorder or a life-altering behavior. It seems that these people should have the right
to choose not to know about their conditions. Therefore, the choice to disclose genetic
information to one’s family members goes beyond creating worry for an individual’s family—it
steps into the future lives of those family members in regards to their own health.
The issue of disclosure steps further into familial territory with the examination of
children, adopted children in particular. Both personal DNA and that of the child’s biological
parents contain information that will affect a child’s future. Disclosure of the adoptive child’s
test results to prospective parents, especially should the results contain evidence for chronic
illness or behavioral disorders, may lead to adoptive discrimination (Fox, 1998). Yet, the
argument could also be made that adoptive parents have as much right to their child’s genetic
information as do biological parents. From another standpoint, revelation of the biological
parent’s genetic information to either adoptive parents or the child denies the anonymous status
wished for by many people who give their children up for adoption. Yet, prior knowledge of
genetic information from a child’s biological parents may allow preventative measures to be
taken on behalf of the child (Fox, 1998). The issue of disclosure and the obligation to share
results, therefore, goes far beyond the individual.
The final component of protecting genetic privacy as set forth by Hustead and Goldman
(2002) regards the storage and security of the results of genetic testing. In the age of the
computer, the potential to create large databases of genetic information is enormous. Indeed, this
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concept has already been initiated in countries such as Iceland, which is in the process of
obtaining the DNA information for the majority of the members of its population. Britain is also
plotting the creation of a DNA database (Wilson, 2003). Computers are already used to collect,
analyze, and combine information in a variety of healthcare and research settings (Alpert, 2003).
Therefore, in addition to storage, the usage of computers makes possible the opportunity to link
one database with another, thereby allowing the linkage of genetic sequences as found in one
department or facility, with the medical records from clinical examinations in another facility
(Alpert, 2003). The genetic tests of individuals may also be linked to those of family members
with a simple click of the mouse. (Alpert, 2003)
This passage of information between entities presents a means for regulation of genetic
privacy. The way in which electronic systems are used presents a potential weak spot in the
regulation of access to genetic testing results. In other instances, data may be made available via
the Internet where numerous individuals are allowed access. Technology currently is outpacing
regulation of data usage and even understanding of every genetic test available (Alpert, 2003).
Therefore, the need for a method of dealing with the ever-widening scope of genetic privacy is
immediate.
Genetic Privacy and Legislation
Despite donating numerous resources toward the research of the human genome and its
implications, the United States has yet to set forth a comprehensive method for dealing with its
consequences--genetic information (Hustead & Goldman, 2002). Yet, several applicable means
of regulation via legislation already exist. Among these are federal and state laws regulating not
only genetic privacy, but also medical privacy in general. Discrimination laws also fall into the
category of relevancy to genetic privacy: genetic privacy is intertwined with genetic
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nondiscrimination. However, those laws not created specifically with genetic privacy in mind
must be examined for their application to genetic testing results as concerning the privacy of the
individual.
Current Legislation
One of the best-known healthcare regulations currently in place is the Health Insurance
Portability and Accountability Act, HIPAA, an act passed on August 31, 1996 that took effect in
April of 2001 (Weems, 2003). This regulation applies to healthcare providers, health plan
providers, and intermediaries between the two (Hustead & Goldman, 2002). HIPAA regulates
the broad spectrum of ‘protected health information’ (PHI). As genetic information lies within
this spectrum, the act is applicable to genetic privacy issues. Yet, while HIPAA laws maintain
privacy of medical records, the regulations do not specifically ban the use of genetic information
for raising an individual’s insurance premium rate or denying coverage in the individual health
insurance market (Field, 2003; Miller 2002).
Other laws within governmental regulation also pertain to genetic nondiscrimination, and
therefore, genetic privacy. For example, the Americans With Disabilities Act (ADA), enforced
by the Equal Employment Opportunity Commission (EEOC), addresses broad issues of
discrimination (Weems, 2003). The use of the results of genetic testing as a discriminatory factor
in the workplace, therefore, appears to fall under the jurisdiction of this commission (Roche,
2002). It was to this entity that employees of the Burlington North Santa Fe Railway took their
case when the employer was using genetic testing to find evidence for predispositions to carpal
tunnel syndrome (Roche, 2002; USA Today, 2002). The case never reached the courts, however,
so the strength of arguing genetic discrimination as falling under the Americans with Disabilities
Act was not tested.
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Research protocols also present an opportunity for regulation of genetic privacy. The
Clinical Laboratories Improvement Amendments of 1998 regulate the performance of genetic
testing for clinical purposes (Weems, 2003). In addition, the question of whether genetic
information can be patented falls under the category of research regulation.
Some legislation targeting genetic privacy in particular already exists in either full form
or preliminary stages. In October of 2003, the Senate passed The Genetic Nondiscrimination in
Health Insurance and Employment Act, S. 1053. Implementation of this bill would directly affect
both group and individual insurers (United States. Cong. Senate. 108th Congress, 1st Session,
2003). This law would prevent the use of genetic testing results by employers as well.
Importantly, S. 1053 defines a genetic test as “an analysis of human DNA, RNA, chromosomes,
proteins, or metabolites that detects genotypes, mutations, or chromosomal changes” (Office of
Legislative Policy and Analysis, 2004, p. 64), a definition which excludes key tests such as
protein or metabolite analysis.
The United States Senate is not the only legislative body addressing genetic privacy.
H.R. 3636, a Congressional bill originating in the United States House of Representatives, also
targets genetic discrimination, relating genetic privacy to the Public Health Service Act (United
States. Cong. House of Representatives. 108th Congress, 1st Session, 2003). The Executive
branch of the United States government also issued statements regarding the use of genetic
information. On February 8, 2000, President Clinton set forth Executive Order 13145 forbidding
the Federal government to base hiring and employment practices upon genetic testing results
(Sankar, 2003; Weems, 2003).
Finally, state governments are also examining the future benefits and problems hinging
upon genetic privacy. From 1993 to 2001, two-thirds of the states passed laws directed at
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determining what entities shall have access to genetic test results (Sankar, 2003). For example,
Nebraska Legislative Bill 432, introduced in 2001, restricts genetic testing itself to informed
consent by the individual (2004). This legislation also forbids insurance companies,
governmental departments, or employers to require or discriminate based upon genetic testing.
Future Legislation
The possibilities for future laws addressing genetic privacy, especially relating to
discrimination, lie within a multitude of viewpoints. Roche (2002) presents four potential angles
to address the problem of genetic privacy and forming regulations. The first approach utilizes a
black-and-white method via a complete ban on genetic testing for employment purposes. The
next three positions introduce exceptions to this law, either by allowing a genetic discrimination
in the case of a bona fide occupational qualification (BFOQ), in the situation where a job will
present a high risk of disease to those genetically susceptible to specific disorders, or in cases
where testing will protect the health or safety of employees (Roche, 2002). These possibilities,
however, leave many loopholes which employers may use to legally discriminate within the
workplace.
Yet, researchers worry that over-regulation of genetic privacy could hinder or even
entirely deter future health studies and therefore, individual care (Field, 2003). Other benefits of
genetic information could also be negated should genetic privacy regulation become too strict.
For example, individuals with positive indicatory genes within genetic information would be as
restricted in its usage as those with detrimental genes. In essence, the nature of genetic
information causes a lack of ability to classify what can and cannot be revealed into black and
white categories. Further legislation may have to include numerous exceptions and loopholes in
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order to be most efficacious. Informed consent on the part of the individual must also play a role
in future regulation (Weems, 2003).
Tying Definitions and Legislation Together
The issues rooted in the definition and defense of genetic privacy are many. As
technology rapidly advances, society must examine questions pertinent to the access, use,
disclosure, and storage of an individual’s genetic information. The guidelines determining what
constitutes genetic information and what the impact of specific genes upon behavior and disorder
is remain fuzzy. So too does the public perception of genetic privacy. Current legislation such as
HIPAA or OSHA regulations and laws protecting discrimination due to disability or other
reasons may be applicable to coming issues of genetic privacy. However, the need for specific
laws protecting the genetic privacy of individuals remains evident. The world population will
soon have access to the DNA sequence, and therefore, to a delicate part of what constitutes an
individual. Society must decide to whom, where, and in what circumstances the key to this
information shall be passed beyond the individual that it originates from.
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