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Ethical issues concerning genetic testing and screening in public health.

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American Journal of Medical Genetics Part C (Semin. Med. Genet.) 125C:66 – 70 (2004)
A R T I C L E
Ethical Issues Concerning Genetic Testing
and Screening in Public Health
JAMES G. HODGE, JR.*
Genetic testing (predictive analysis that determines genetic alterations in individuals for clinical purposes) and
screening (programs that identify persons within a subpopulation who may be at a higher risk for a genetic disease
or condition) are increasingly utilized to promote and improve the public’s health. The proliferate use of genetic
testing and screening may improve public health outcomes, but it also implicates significant ethical, legal, and
social concerns. Within the context of conflicting ethical values from the individual and public health perspectives,
individual values such as informed consent and privacy and discrimination protections must be respected. Legal
and ethical attempts to exceptionalize genetic tests and information (as compared to other health information) to
protect privacy and prevent discrimination are well intended, but can also be unjust and impractical. Respect for
individual ethical rights has limits. Principles of public health ethics justify voluntary genetic testing and screening
and sharing of data for population-based health purposes. Thus, individual rights should not always trump the use
of genetic tests or screening programs (or information derived therefrom) for legitimate public health purposes.
ß 2004 Wiley-Liss, Inc.
KEY WORDS: genetics; public health; testing; screening; ethics; exceptionalism
INTRODUCTION
Genetic testing and screening programs
are an established part of public health
practice and research in the United States
and abroad. For decades, U.S. public
health authorities have recommended
the screening of newborns for specific
genetic (and nongenetic) conditions
through genetic tests using infant blood
samples. Prenatal genetic testing and
screening are part of reproductive care in
the modern genetic revolution. Genetic
testing and screening in the delivery of
other health services or for occupational
purposes [Shulte and DeBord, 2000] are
increasingly utilized [Gostin et al., 2001].
James G. Hodge, Jr., JD, LLM, is the
deputy director of the Center for Law and
the Public’s Health at Georgetown and Johns
Hopkins Universities; assistant public health
professor, Johns Hopkins Bloomberg School
of Public Health; and a faculty member,
Georgetown University Law Center. Professor Hodge formerly served as project director
of an NIH-funded effort to study legal and
ethical issues at the intersection of genetics,
ethics, and the law.
*Correspondence to: James G. Hodge, Jr.,
Center for Law and the Public’s Health, Johns
Hopkins Bloomberg School of Public Health,
Hampton House, Room 527A, 624 N. Broadway, Baltimore, MD 21205.
E-mail: jhodge@jhsph.edu
DOI 10.1002/ajmg.c.30005
ß 2004 Wiley-Liss, Inc.
Genetic testing and screening further
public health goals of preventing and
treating diseases in the population in many
ways. Information gleaned from these
programs helps public health practitioners
and researchers understand the role genes
play together with environmental and behavioral influences in the onset of diseases.
Targeted screening efforts assist public
health officials in identifying specific
genetic conditions that affect subgroups
or persons. Inexpensive and effective
treatments (when available) can be provided to improve the collective health of
the population. Genetic testing and screening may facilitate population research
on the clinical validity and utility of
genetic-based treatments [Khoury, 2000].
Proliferate uses of genetic
testing and screening may help
to improve public health
outcomes, but they
simultaneously raise significant
ethical, legal, and
social concerns.
Should genetic tests or screening
ever be allowed without individual
informed consent? Should genetic
screening be performed for every condition for which a reliable and accurate
test is available? Should genetic testing or
screening programs be mandatory
(required) or voluntary (optional)?
How can public health authorities or
others acquire, use, or disclose sensitive
genetic test results without violating
individual and group privacy rights? Is
genetic information derived from tests
‘‘exceptional’’ or somehow different
from other health data, and thus deserving of enhanced privacy protections?
These and other ethical issues are
examined below within a framework of
differing standards of individual and
community ethics.
GENETIC TESTING AND
SCREENING: SIMILARITIES
AND DISTINCTIONS
Though often used interchangeably,
genetic testing and screening are different. Genetic testing refers to predictive
analysis to determine the presence or
absence of a genetic disease, condition,
or marker in individual patients for
clinical purposes [Gostin, 2000]. Genetic tests involve the direct examination of
chromosomes, DNA, RNA, or proteins
ARTICLE
for alterations. These tests can (1) confirm a diagnosis for a symptomatic individual, (2) assist with presymptomatic
diagnosis (e.g., Huntington disease) or
assessment of the risk of developing
adult-onset disorders (e.g., Alzheimer
disease), (3) identify carriers of a diseaselinked gene (helpful for reproductive
purposes), and (4) aid in prenatal diagnosis and newborn screening. Hundreds
of genetic tests are currently available to
predict diseases in individuals and the
population [SAGCT, 2000].
Despite great potential, genetic tests
are limited in their ability to predict
many diseases. A genetic test may not be
able to identify every alteration of a gene
(which can have mutations in hundreds
of places along its base pairs) and thus
may not reveal an abnormality. In addition, genetic tests do not measure the
complex interactions between genes
and environment that contribute to the
onset of almost all diseases. As a result, a
genetic test may not accurately gauge an
individual’s susceptibility for multifactorial causes of mortality-like heart
disease. Thus, even positive genetic test
results must be closely examined and
interpreted.
Screening generally denotes the systematic application of a test to a defined population [Gostin, 2000]. Genetic
screening refers to programs designed to
identify persons within a subpopulation
whose genotypes suggest they or their
offspring are at a higher risk for a genetic disease or condition. Thus, where
genetic tests are used to reveal particular
propensities among individuals, genetic
screening programs use genetic tests (or
other techniques) to identify rates of
genetic diseases or conditions among
subpopulations, and sometimes can uncover previously unknown or unrecognized conditions. Some public health
screening programs are mandatory: persons must participate in the screening
program unless they opt out (where
allowed) for religious, philosophical, or
other reasons. Many screening programs, however, are voluntary. Persons
may choose (or opt in) to participate, but
do not have to.
A prominent example of genetic
screening is the long-standing public
AMERICAN JOURNAL OF MEDICAL GENETICS (SEMIN. MED. GENET.)
health practice of screening newborns
for genetic conditions. Most states require the screening of infants for treatable genetic disorders, particularly
phenylketonuria (PKU), subject to parental refusal on religious or philosophical grounds [New York State Task Force
on Life and the Law, 2000]. Other
examples of genetic screening in the
delivery of preventive clinical care may
collectively help to improve the health of
populations. They include (1) screening
at-risk women for genetically related
breast cancers; (2) screening for chromosome abnormalities in preimplantation
embryos conceived through assisted
reproductive technologies to higher-risk
couples; (3) hemachromatosis screening
in adults; (4) preconceptional or prenatal
carrier screening for Tay-Sachs, cystic
fibrosis, or sickle cell disease; and (5)
prenatal testing to detect Down syndrome in higher-risk pregnancies.
The utilization of genetic tests and
screening for public health purposes is
complicated. Less accurate genetic tests
may still be helpful for diagnosis in
individual settings, but can lead to low
predictive values when incorporated
into a genetic screening program. Significant numbers of test results that are
false positive (healthy persons who are
wrongfully determined to be affected by
a genetic disease or condition) and false
negative (persons who are actually affected go undetected) may result. Genetic screenings for sickle cell anemia
among African-Americans in the 1970s
revealed potential discrimination that
may follow a public health screening
program [New York State Task Force on
Life and the Law, 2000].
Beyond their harm
to individuals, genetic screening
programs that are poorly administered or ill designed present
minimal or no improvement in
public health outcomes, and
may result in improper use of
limited public health resources.
67
ETHICAL CONCERNS
Ethical issues pervade any public health
strategy involving genetic tests or screening.Underlying each of these ethical
Key ethical issues include
the extent of individual
informed consent, the design
and application of genetic
screening and testing, privacy
and discrimination concerns,
and genetic exceptionalism.
issues are differing perspectives of individual and public health ethics.
Bioethics and Public
Health Ethics
Principles of bioethics largely focus on
the rights of individuals. Individuals are
entitled to a sphere of autonomy, are
owed fair and equitable treatment, and
must not be harmed intentionally. These
rights inhere in each person. Each
person is responsible for respecting
others’ rights. Protection of individual
rights is critical in public health practice
that increasingly stresses an ethic of voluntarism. Improving communal health
and respecting individual rights are often
synergistic, but may be at odds. At times,
persons may be required to act or contribute to larger community goals in
ways that may infringe their individual
rights.
Primary justification for infringements of individual ethics in the interests
of public health is found in public health
ethics. Unlike bioethics, public health
ethics focuses largely on the health of
communities [Public Health Leadership
Society, 2002]. For example, screening
infants for genetic diseases involves testing the children’s blood. The resulting
infringement on the parent’s autonomy
and decision making under this scenario
may be minimal, but the public health
impact can be extraordinary. This infringement may be completely justifiable
68
AMERICAN JOURNAL OF MEDICAL GENETICS (SEMIN. MED. GENET.)
under public health ethics that envision
individuals as members of society with
certain communal goals.
Many bioethicists perceive conflicts
between individual ethical rights and
public health ethics. They may view
public health programs or efforts as
interfering with individual decision
making, bodily integrity, and other protected interests. Sometimes, however,
Ideally, public health
programs consider individual
ethical rights to promote
participation.
it is not possible to fulfill the ethical
interests of individuals and accomplish
legitimate public health goals. Consider,
for example, allowing persons to deny
public health authorities access to their
diagnoses of genetic disease to effectively
monitor genetic diseases. An individual’s
claim of a breach of privacy rights could
trump the community’s goal of screening genetic diseases in the population.
Public health ethics support participation in public health programs even
where some infringement of individual
rights may follow. This analysis provides
an apt framework for considering additional ethical issues below.
Individual Informed Consent
Principles of autonomy strongly support
an individual’s right to informed consent
prior to genetic testing or screening.
Many law and policymakers, particularly
at the state level, have passed legislation
or created administrative regulations in
the last decade to require specific,
written informed consent [Gostin et al.,
2001]. Prior to the administration of a
test, patients are entitled to explanations
of the nature and scope of the information to be gathered, the meaning of
positive test results, the underlying
disease or condition, and any appreciable
risks involved in the testing or activities
following a positive result. Through
advance informed consent, patients can
weigh the benefits of genetic testing
against the risks. However, misunderstanding of complex genetic science and
uncertainties in the meaning of test
results can blur the value of informed
consent [Press and Clayton, 2000].
People may 1) not understand their test
results because of the complex interaction of genes and environmental components that lead to diseases, 2)
lack the ability to provide effective
informed consent where they lack such
understanding or feel coerced to
provide consent to further their medical
treatment, or 3) lack resources or
information to help resolve their uncertainties. States like California recommend genetic counseling to improve
individual comprehension, and thus
enhance informed consent [Gostin
et al., 2001].
Should genetic tests ever be allowed
without informed consent? Public
health officials may justify mandatory
newborn screening programs, even
without parental consent, under utilitarian legal principles authorizing the state
to protect children. However, at least
concerning autonomous individuals,
there is little justification to mandate
genetic testing or screening without
informed consent.
When Should Genetic Screening
Be Performed?
One of the clear criteria for the performance of genetic screening is the
availability of accurate genetic tests.
Other key considerations include (1)
whether an at-risk population can be
determined for targeted screening; (2)
what method(s) of screening should be
used, whether mandatory (required) or
voluntary (optional); (3) who has access
to the screening program [Lin-Fu and
Lloyd-Puryear, 2000]; (4) whether there
exists an effective and affordable treatment for the condition being screened;
(5) whether the screening program is
well tailored to accomplish public health
goals [Gostin and Hodge, 1999]; and
(6) whether the public actually needs and
is willing to accept the screening program [National Academy of Sciences,
1975].
ARTICLE
Each of these criteria is important.
If the screening program targets too large
of a group, and is thus overinclusive,
persons may unjustifiably be asked or
required to participate without any
individual or public health benefit.
Public health ethics would not support
resulting breaches of individual privacy
where no public health goal can be
achieved. If the method of screening is
mandatory, individual autonomy can be
unfairly breached. Where persons lack
access to testing services, they are unfairly left out of a public health program
designed to improve communal health.
If there is no effective treatment for the
genetic condition, there may not be a
valid reason to screen anyone for the
condition. Without public acceptance,
a genetic screening program may lack
political support and corresponding
funding.
Privacy and Discrimination
Many persons view their genetic information as highly sensitive and take
affirmative measures to protect its privacy [Georgetown University, 2001;
Husted and Goldman, 2002]. Individuals are concerned about the privacy of
their genetic data because unauthorized
uses or disclosures can lead to invidious
discrimination on an individual or group
basis through insurers, employers, government agencies, and others [Hodge
and Harris, 2001]. Health, life, and
disability insurers may seek to use
genetic test results to limit or deny
coverage. Employers may reject positions or advancement to applicants based
on their genetic flaws [Gostin et al.,
2001]. Many states have passed specific
genetic privacy laws based on protecting
genetic information from unauthorized
uses or disclosures, or limiting the performance of genetic tests to persons who
have provided their specific informed
consent [Gostin et al., 2001]. The federal
Department of Health and Human
Services has implemented national
health information privacy regulations
pursuant to the Health Insurance Portability and Accountability Act of 1996
(HIPAA), which includes genetic data
[Centers for Disease Control and Pre-
ARTICLE
vention, 2003]. Congress has previously
and is presently considering geneticspecific privacy legislation.
Though important,
individual privacy interests in
genetic information are
not absolute. Others may have
a right to know about
an individual’s genetic profile.
Spouses, offspring, and close family
members may claim a right to share in
the knowledge of an individual’s genetic
test results. State courts in Florida and
New Jersey have suggested health care
workers may be obligated to share
genetic tests results with blood relatives
of their patients under certain circumstances [Gostin and Hodge, 1999].
Public health officials conducting surveillance or health researchers performing longitudinal genetic studies may also
have legitimate claims to access an
individual’s genetic data. Such individual
or communal needs for individual
genetic information may be supported
by normative principles of beneficence
or justice, or utilitarian ideals, but can
impinge the privacy rights of individuals
participating in public health genetic
screening programs. As a result, individual interests in protecting their genetic
information are constantly balanced
with society’s interests in limited uses of
such data for public health purposes.
Genetic Exceptionalism
As mentioned above, individual privacy
and antidiscrimination concerns relating
to genetic testing have led many states to
adopt genetic-specific privacy and antidiscrimination laws to protect persons
from wrongful acquisitions, uses, or
disclosures of individually identifiable
genetic data. These laws treat genetic
information differently from other medical or personally identifiable information and typically establish heightened
protections [Gostin and Hodge, 1999].
AMERICAN JOURNAL OF MEDICAL GENETICS (SEMIN. MED. GENET.)
Concerning public health uses of genetic
testing or screening programs, the trend
toward genetic exceptionalism presents
its own ethical and practical concerns.
Genetic exceptionalism suggests
that genetic information is sufficiently
unique to garner special protections.
Many believe that genetic information is
different from other health data for
several reasons. Foremost among these
is the predictive nature of genetic data.
Unlike most other medical records that
describe an individual’s past or current
health condition, genetic tests can identify (with varying degrees of confidence)
increased risks of future diseases in
otherwise healthy individuals. Genetic
information is perceived as different for
other reasons: (1) it remains largely stable
throughout life; (2) genetic fingerprints
are remarkably identifiable; (3) genetic
conditions are inherited, and thus
genetic information can reveal information about an individual’s current family
members and future offspring; and (4)
genetic information can transcend
health status to reveal predispositions
and personal characteristics [Gostin et al.,
2001].
There are, however, drawbacks to
treating genetic information differently.
Strict protection
of autonomy, privacy, and
equal treatment of people
with genetic conditions
may threaten the
accomplishment of communal
goods, including public
health surveillance.
As more medical conditions are linked to
gene-based causes, it becomes increasingly difficult to distinguish genetic data
from other medical data. In reality,
genetic information is part of the continuum of an individual’s medical record
and cannot easily be separated. Some
privacy advocates argue that genetic
information is more sensitive than other
health information because it can pro-
69
vide significantly more personal information about an individua’s existing and
future medical conditions. However,
nongenetic health records may provide
many personal details. Health records
include private demographic, financial,
and family history information as well as
a patient’s social, behavioral, and environmental factors [Gostin and Hodge,
1999].
Genetic-specific statutes may be
considered unfair because they treat
people who face the same social risks
differently based on the biological cause
of their otherwise identical health conditions. Why, for example, should medical information about a woman who has
developed breast cancer of genetic
origin (e.g., BRCA 1 or 2) be given
greater protection than a woman who
has developed breast cancer because of
environmental or behavioral factors
(e.g., smoking) [Rothstein, 1998]?
On a practical level,
treating genetics as
distinct from other medical
diseases or conditions
may enhance the stigma of
genetic testing and
screening programs, even
as lawmakers attempt
to remove their
stigmatizing effects.
This can create public fears and
misapprehensions about genetics that
may discourage individuals from seeking
testing or participating in screening
programs, and thwart future scientific
progress.
Some scholars and policymakers
have concluded that a legislative and
policy trend toward genetics exceptionalism is ill advised for these reasons
[Gostin and Hodge, 1999]. Rather,
policymakers should focus on uniformly
protecting the privacy and security of all
forms of health data, including genetic
information, so as to effectively respect
70
AMERICAN JOURNAL OF MEDICAL GENETICS (SEMIN. MED. GENET.)
individual sensitivities to specific health
data. The HIPAA Privacy Rule attempts
to protect health information broadly,
but only provides a floor of federal
protections, leaving state genetics laws
that provide greater protections in place
[Centers for Disease Control and Prevention, 2003]. The result is a patchwork of exceptional genetic privacy
standards that vary from state to state.
as other information within their health
records. Existing privacy approaches to
protecting genetic data, or health information more broadly, fail to eliminate
an exceptional approach. Ultimately, responsible and ethical choices about the
use of genetic tests and the administration of genetic screening in the population promote the public’s health.
CONCLUSION
REFERENCES
While potential public health benefits of
genetic testing and screening support
their existing and future uses, underlying
risks to individuals and populations require awareness and responsibility. Ethical concerns about informed consent,
privacy, and discrimination are not easily
resolved. Balancing individual rights
with the community’s interests in promoting the public’s health requires an
understanding of the sometimes divergent positions of bioethics and public
health ethics. Exceptionalizing protections of individual rights based on
distinctions of genetic tests or information from other health data is complicated. Genetic health data are not neatly
separated from other health data, and
may be as equally sensitive to individuals
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