authorbio
Linda
MacDonald Glenn, J.D.,
L.L.M. (in Biomedical
Ethics, from McGill
University) is a
healthcare ethics educator
and consultant. She
completed a fellowship at
the Institute...
genomics:
genetic information
and privacy
Genetic Testing to
Predict Disease:
Ethical, Legal, and
Social Implications
(ELSI)
By Linda MacDonald
Glenn
An
ActionBioscience.org
original
article
articlehighlights
Genetic testing to
predict disease can be
helpful to individuals
and same families but
poses ethical, legal,
and social questions.
For example:
Do you know your
privacy rights when it
comes to genetic
testing?
Does a doctor have a
right to share your
information with
family?
Would you allow a
child to have genetic
testing?
Would you use genetic
testing to choose the
“right” embryo?
Genetic Testing to
Predict Disease: Ethical,
Legal, and Social
Implications (ELSI)
By Linda MacDonald
Glenn
The Human Genome Project
enabled genomic
understanding.
Will a genetic test change your life
for the better? Predictive Genetic
Testing (PGT) is the use of a
genetic test to predict future risk
of disease. Although PGT is
relatively new, arising from the
mapping of the human genome, it has
rapidly emerged as a technology that
carries many benefits, but many
risks, as well. Considerable debate
surrounds the moral and ethical
issues regarding persons who have
undergone predictive genetic
testing.
X-linked recessive
manner means that the
inherited trait almost
exclusively affects
males.
PGT is utilized commonly
in the following
circumstances:
carrier testing1,
which identifies persons
with a genetic mutation
for a disorder inherited
in an autosomal
recessive2 or
X-linked recessive
manner3;
prenatal diagnosis, in
which testing determines
whether a fetus is
affected with a
particular disorder4;
and
predictive testing,
which is offered to
asymptomatic persons
who, based on their
family history, are at
risk for developing a
disorder.
Each one of these
circumstances carries a
particular set of ethical,
legal, or social
implications, depending on
the reasoning behind the
testing. For example:
For medical purposes, is
the testing diagnostic,
or predictive with a
treatment?
Are you having the
testing done for
personal decision-making
reasons? That is,
predictive without a
treatment, carrier, or
prenatal?
Genetic results are
directly related to an
individual’s identity.
In any circumstance,
privacy and
confidentiality are
critical because the
genetic results are
directly related to an
individual’s identity.5
Not only is
confidentiality an issue
for health care, but to
prevent genetic
discrimination in
insurance coverage and
employment, as well.
Information from a genetic
test can affect an entire
family. If the disorder is
either genetically
dominant or carried by an
individual, that person’s
parents, children,
brothers, sisters, and
even extended family may
also be affected.
Questions that arise may
be:
Should family members be
informed of the test
results?
Should the individual
diagnosed with a genetic
disorder inform his/her
family they may be at
risk?
Alternatively, should
the physician who has
diagnosed the patient
inform the family of the
disorder and recommend
testing?
Family history serves as a
guide for genetic testing.
Furthermore, a person may
make life-altering
decisions based on the
results of a genetic test.6
Disclosure of genetic test
results can be critical in
all aspects of an
individual’s life. When a
person is identified
through family history as
being at risk for an
inherited condition, a
genetic test may be
available to clarify their
chances of their
developing that disease;
in addition, the genetic
test results may also
reveal information
regarding risk for disease
of other biological family
members.
Marybeth: a case study
At age 37, Marybeth is
pregnant with her second
child, in her first
trimester. She discloses
to her family physician
that she had a severely
mentally and physically
handicapped younger
brother who died shortly
before she was born.
Ashamed, Marybeth’s mother
told her that her younger
brother’s death was caused
due to injuries resulting
from a loss of oxygen when
he was born. Marybeth has
a healthy four-year-old
daughter.
CVS is a prenatal test
to detect chromosomal
and genetic
abnormalities.
Marybeth pursues genetic
testing, and she is found
to be the carrier of
fragile X-gene mutation (a
genetic mutation
associated with mental
retardation and
developmental
disabilities). She decides
to have chorionic villus
sampling (CVS), and the
results show that her
fetus is a boy who has not
inherited the fragile X
gene mutation. At her
follow-up visit, she tells
the clinician that she
understands that it is
likely that her mother is
a carrier of this
condition, and that her
first cousin, Jillian may
be a carrier.
Genetic counselors
can assist you in making
knowledgeable decisions.
In this situation,
identifying Marybeth as a
carrier for the fragile
X-gene mutation means that
other maternal family
members, such as her
mother, sister, maternal
aunts/uncles, and maternal
cousins, may also be
carriers of this gene
mutation, as well as her
own daughter. This raises
the issue who should
counsel the patient and/or
family, and how the
patient and/or family
should be counseled. Even
though, Marybeth’s
physician may be
knowledgeable about
Marybeth, her family,
their socioeconomic
background, and personal
attitudes, he/she may not
be the best person to
provide genetic
counseling. Family
physicians often choose to
refer patients to a
genetics professional
because of the time needed
to become familiar with
the relevant aspects of
the disorder, testing,
management, and
disease-specific
psychosocial support
services.
Would you allow your
child to undergo genetic
testing?
Additionally, Marybeth has
indicated she would like
her four-year-old daughter
tested, which raises the
issue of whether or not
children should be tested
for carrier status.
Ethicists argue that
carrier testing has the
potential to affect the
future reproductive
prospects of a child.
Therefore, the decision
should be made by the
child when he/she reaches
reproductive age.7
This view is based on the
basic ethical principle of
informed consent, which
states an individual can
freely and voluntarily
give their consent to be
tested —without external
pressure. That is after
being informed of the
benefits, risks,
procedures, and other
pertinent information
relating to the carrier
test.
In addition, it is argued
that carrier testing
performed during childhood
also denies the child of
confidentiality, as well—a
right he/she would receive
if tested as an adult. On
the other hand, in a study
done in the United States,
most parents of
individuals with Fragile
X-syndrome were very
concerned that their
children knew the genetic
risk before becoming
sexually active, and/or
should be able to marry
informed of their carrier
status. They also argued
that carrier testing in
childhood might help the
child to adapt to the
knowledge of being a
carrier slowly, while
receiving the information
later could be more
shocking.8
What were Marybeth's
choices?
Marybeth chose to have
CVS, which is a form of
genetic prenatal
testing. If Marybeth’s
fetus had been diagnosed
with the Fragile X
mutation, Marybeth may
have chosen to terminate
the pregnancy. However,
if Marybeth were opposed
to abortion, this would
have created an ethical
dilemma.
Now that Marybeth knows
that she is a carrier of
the Fragile X-gene
mutation, she may choose
to undergo
preimplantation genetic
diagnosis (PGD), the
earliest form of
prenatal diagnosis.
With in vitro
fertilization, many
couples choose testing
before implantation.
PGD: testing early-stage
embryos
Preimplantation genetic
diagnosis (PGD) tests
early-stage embryos
produced through in vitro
fertilization (IVF) for
the presence of a variety
of conditions. One cell is
extracted from the embryo
in its eight-cell stage
(which does not harm the
embryo) and genetically
analyzed. PGD allows
couples at risk of passing
on a serious genetic
disease to reduce the risk
of selecting an embryo
that would have a serious
genetic disease to be
implanted in a woman's
uterus and be allowed to
gestate and develop into a
newborn child. PGD cannot
ensure that an embryo is
free of any genetic
disorders; it can only
look at those genetic
disorders of which we are
currently aware.
PGD is not without
controversy, however.
Those who oppose the
destruction of human
embryos in general are
necessarily opposed to PGD;
however, for some, PGD is
preferable to terminating
a pregnancy already
underway. Other criticisms
of PGD include that it can
be considered a eugenic
technology; that PGD will
be used to select a child
of a preferred sex, or to
select a future child's
aesthetic or behavioral
traits, or worse, to help
create a ‘super-race’.
Some groups have advocated
restrictions for PGD, such
as:
Limiting genetic testing
of embryos to those
conditions that result
in early and painful
death of children, such
as anencephaly, Tay
Sachs, Lech Nyan’s
Disease.
Prohibiting negative
eugenics in the case of
all other genetic
conditions.
Prohibit the use of PGD
for selecting for
non-disease
characteristics such as
height, weight,
intelligence,
personality traits,
behavior, or gender.
Mandatory screening
carries many ethical
concerns.
Such restrictions are
inevitably intertwined
with the issues of
personal choice, however,
and autonomy over one’s
body and one’s offspring.
Should these issues remain
choices of the individual?
Alternatively, do they
rise to the level of
requiring governmental
interference or regulation
for the sake of the
greater good of society?
For example, if a therapy
is developed that could
prevent cystic fibrosis,
would it be reasonable to
require pregnant women
with a family history of
CF undergo genetic
testing? Because the right
to bear children is one
that has been protected
legally by the United
States Constitution, any
testing is governmentally
mandated could be seen as
an impingement upon
procreative liberty and
imposing an unfair burden
upon women. Mandatory
screening would require
individuals to learn
things about themselves
they may have no wish to
know and potentially
threaten their economic
security by putting them
at risk of social
stigmatization as well as
employment and insurance
discrimination. Such a
mandate, in the end, could
have a chilling effect on
the exercise of the right
to procreate.9
However, mandatory
education about basic
genetics and the available
of voluntary screening
services, could offer a
means promoting healthy
births without sacrificing
personal liberty, while at
the same time giving
informed choice and
serving governmental
objectives.10
Other predictive testing
In the case of testing
asymptomatic individuals,
the benefits of some
predictive genetic tests
can be substantial. Two
examples:
First, the screening of
healthy appearing
newborns with sickle
cell anemia permits the
administration of
prophylactic
antibiotics, which
significantly reduces
infant mortality.
Second, by screening
asymptomatic infants for
phenylketonuria, they
can be placed on a
low-phenylalanine diet,
which prevents mental
retardation.
In these examples, the
technical accuracy of the
tests is fairly certain
and treatment can be
administered or preventive
action can be taken to
prevent harm.11
Some genetic tests are
imperfect predictors of
future disease.
Potential harm from
genetic testing
However, because
relatively few
interventions have yet
been devised to improve
the outcome of most
genetic disorders, the
potential harm can be
substantial. Some genetic
tests are imperfect
predictors of future
disease. As a result, some
people may choose to
forego testing; others
undergo testing despite
the uncertainty of the
results. Others who are
tested may not foresee the
impact on them of getting
a positive test result for
a currently untreatable
condition, such as
Huntington’s chorea.
Others who receive a
negative result for a
common complex disease
(e.g., familial
adenomatous polyposis, a
particular form of colon
cancer) may not appreciate
that they still are at
risk for the disease. The
American Academy of Family
Physicians has recommended
specific guidelines when
discussing and obtaining
informed consent for
predictive genetic
testing, including:
Be
informed before you
proceed with testing.
Obtaining an accurate
family history and
confirming diagnoses
before testing.
Providing information
about the natural
history of the condition
and the purpose of the
test.
Discussing the
predictive value of the
test, the technical
accuracy of the test and
the meaning of a
positive or negative
test.
Exploring the patient's
motives for undergoing
the test, the potential
impact of testing on
relatives and the risk
of passing a mutation on
to children.
Discussing the potential
risk of psychosocial
distress to the patient
and family, even if no
mutation is found.
Discussing issues
involving
confidentiality and the
risk of unemployment and
insurance
discrimination.12
Under the HIPAA law,
you can specify access to
your health records.
The enactment of the
Health Insurance
Portability and
Accountability Act of 1996
(HIPAA) has helped in that
it explicitly states that
a presymptomatic genetic
diagnosis does not qualify
as a preexisting
condition, thereby
offering a degree of
protection to some
patients seeking
presymptomatic testing.
However, HIPAA does not
prohibit other
discriminatory practices,
such as mandatory testing,
disclosure of genetic
information to third
parties, and raising
premiums or setting caps
on insurance if these
conditions are equally
applied to all persons
enrolled in the plan.13
As for employment,
currently the United
States does not have a
national law prohibiting
the use of genetic testing
to determine employment
eligibility, but a
patchwork of federal laws
and state-based laws have
created some protection
for genetic information
about employees.14
Today most states have
enacted legislation that
prohibits genetic
discrimination in the
workplace and in obtaining
health insurance coverage.
There is legislation
pending in the United
States Congress, which
proposes the protection of
workers in all industries
from discrimination based
on genetic information;
the legislation would
limit how employers and
organizations, (such as
unions and labor
committees) could use
genetic information in
hiring and other
employment decisions.15
Conclusion
As the technically
accuracy of predictive
genetic testing improves
and the tests become more
widely available,
recognition of the
limitations of predictive
genetic testing, as well
as ethical concerns
regarding use and misuse
of this technology, need
to be considered by
patients, clinicians, and
policy makers.
About
the author:
Linda MacDonald Glenn, J.D., L.L.M.
(in Biomedical Ethics, from McGill
University) is a healthcare ethics
educator and consultant. She
completed a fellowship at the
Institute of Ethics with the
American Medical Association, where
her research encompassed the legal,
ethical, and social impact of
emerging technologies and evolving
notions of personhood. Prior to
returning to an academic setting,
she consulted and practiced as a
trial attorney with an emphasis in
patient advocacy, bioethical and
biotechnology issues, end of life
decision-making, reproductive
rights, genetics, parental and
biological "nature vs. nurture," and
animal rights issues; she was the
lead attorney in several
cutting-edge bioethics legal cases.
She has advised governmental leaders
and agencies and published numerous
articles in professional journals
and books. Glenn has taught at the
University of Vermont School of
Nursing, the Medical College of
Wisconsin, and the University of
Illinois at Chicago College of
Medicine, and she has addressed
public and professional groups
internationally. Dr. Glenn is
currently on staff at the Alden
March Bioethics Institute in Albany,
NY. More about her background can be
seen at
http://www.biomedlaw.com and
http://www.bioethics.org/institute/
faculty/faculty.php?facGroup=1
Genetic Testing to
Predict Disease: Ethical, Legal,
and Social Implications (ELSI)
Human Genome Project
Coordinated by the U.S.
Department of Energy and
the National Institutes
of Health, the 13-year,
international Human
Genome Project was
completed in 2003. It
encompasses 3 million
DNA sequences and
addresses the ethical,
social, and political
ethics of the issue.
http://www.ornl.gov/sci/techresources/Human_Genome/home.shtml
Does Genetic Research
Threaten Our Civil
Liberties? Another article on
our site (mentioned in
the footnotes) covers
the ethics of genetic
testing, including
privacy, discrimination,
as well as asserting
that genetic testing has
really become a kind of
business commodity.
https://scienceinstyle.com/genomic/bereano.html
What kinds of gene
tests are available? Do you ever wonder
what kinds of gene tests
you could get? The
GeneTests web site
allows you to review
tests available by using
their Laboratory
Directory feature to
search by disease. They
also offer a directory
of clinics and
educational information.
http://www.genetests.org/
HIPAA
For more details about
how HIPAA (Health
Insurance Portability
and Accountability Act
of 1996) protects your
medical privacy and
more.
http://www.hhs.gov/ocr/hipaa/
Medical Privacy
Coalition
A national partnership of
organizations concerned
about the threat to
Americans' right to
protect their medical
information.
http://www.medicalprivacycoalition.org/
Notes &
References: 1. From the
Boston Children’s
Hospital web site,
Genetic Testing
page,
http://www.childrenshospital.org/az/Site951/mainpageS951P0.html
(accessed November
19, 2007)
2. A genetic
carrier is an
individual who is
heterozygous for a
recessive gene
that predisposes
for a hereditary
disease. Autosomal
recessive
inheritance is
seen in conditions
where both parents
are asymptomatic
heterozygotes
(carriers) meaning
they only have one
changed gene;
typically males
and females are
equally affected
and the inherited
condition appears
in one generation
(siblings) but not
their parents or
offspring
(‘horizontal
inheritance’).
This means that
two carrier
parents have a 1
in 4 (or 25%)
chance of having
an affected child.
See
http://www.hopkinsmedicine.org/greenbergcenter/tutorial.htm
3. See
http://www.hopkinsmedicine.org/greenbergcenter/tutorial.htm
4. Pagon, R.A.
July 1,
2005.Genetic
Testing: When to
Test, When to
Refer, American
Family Physician,
72 (1).
5.
https://scienceinstyle.com/genomic/bereano.html
6. Grady, C. 1999.
Ethics and Genetic
Testing. Adv.
Intern. Med.
44: 389–411.
7. Borry, P, J. P.
Fryns, P.
Schotsmans, and K.
Dierickx. 2006. .
Carrier testing in
minors: a
systematic review
of guidelines and
position papers.
Eur. J. Hum.
Genet., 14
(2): 133–138).
8. McConkie-Rosell,
A., G. A.
Spiridigliozzi,
and K.
Rounds.1999.
Parental attitudes
regarding carrier
testing in
children at risk
for fragile X
syndrome. Am.
J. Med. Gen.;
82: 206–211.
9. Charo, R. A.,
and K. Rothenberg.
1994., The Good
Mother: The Limits
of Reproductive
Accountability and
Genetic Choice, in
Women and Prenatal
Testing: Facing
the Challenges of
Genetic
Technology. In
Rothenberg and
Thomson, (eds.)
Columbus, Ohio
State University
Press.)
10. Johnsen, D.
March 1992.
Promoting healthy
births without
sacrificing
women's liberty.
43 Hastings L.J.:
569.
11. Holtzman, N.
A., P.D. Murphy,
M. S.Watson, P. A.
Barr. 1997.
Predictive genetic
testing: from
basic research to
clinical practice.
Science
278: 602–605.
12. White, M. T,
K. Callif-Daily,
and J. Donnelly.
September 1, 1999.
Genetic testing
for disease
susceptibility:
social, ethical,
and legal issues
for family
physician. 60: 3,
available at
http://www.aafp.org/afp/990901ap/contents.html
(last accessed Aug
26, 2007).
13. Id.
14. Lorenz, E.
2006. Predictive
testing in the
workplace-could
the German model
serve as a
blueprint for
uniform
legislation in the
United States? 7
North Carolina
Journal of Law &
Technology.
487, available at
http://www.ncjolt.org/content/view/47/62/.
15. Id.
General references:
» Billings, P. R.,
M. A. Kohn, M. de
Cuevas, J.
Beckwith, J. S.
Alper, and M. R.
Natowicz. 1992.
Discrimination as
a consequence of
genetic testing.
Am. J. Hum.
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»
Evans, J. P., C.
Skrzynia, and W.
Burke. 2001. The
complexities of
predictive genetic
testing. Br.
Med. J. 322:
1052–1056.
»
Fulda, K. G., and
K. Lykens. March
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issues in
predictive genetic
testing: a public
health
perspective. J.
Med. Ethics 32
(3): 143–147.
»
Geller, L. N., J.
S. Alper, P. R.
Billings, C. I.
Barash, J.
Beckwith, and M.
R. Natowicz. 1996.
Individual,
family, and
societal
dimensions of
genetic
discrimination: a
case study
analysis.
Science
Engineering Ethics
2: 71–88.
»
GeneTests Web
site, available at
http://www.genetests.org
(accessed August
26, 2007)
»
Holtzman, N. A,
and D. Shapiro.
1998. The new
genetics: genetic
testing and public
policy. Br.
Med. J. 316:
852–856. ()
»
Holtzman, N. A.,
and M. S. Watson,
eds. 1998.
Promoting safe and
effective genetic
testing in the
United States:
final report of
the task force on
genetic testing.
Pp. 48–55.
Baltimore: Johns
Hopkins
University.
»
James, C. A., G.
Geller, B. A.
Bernhardt, T.
Doksum, and N. A.
Holtzman. 1998.
Are practicing and
future physicians
prepared to obtain
informed consent?
The case of
genetic testing
for susceptibility
to breast cancer.
Community Genetics
1:203–212.
»
The Japan Society
of Human Genetics
Report: Guidelines
for Genetic
Testing, March
2001. Journal of
Human Genetics 46:
3.
»
New York
Department of
Health Task Force
Report, Genetic
Testing and
Screening in the
Age of Genomic
Medicine, October
2001.
»
Pagon, R. A.,
Genetic testing:
When to test, When
to refer. July 1,
2005. American
Family Physician,
72: 1, available
at
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(accessed Aug 26,
2007).
»
Pelletier, S., and
M. Dorval. 2004.
Predictive genetic
testing raises new
professional
challenges for
psychologists.
Can. Psychol.
45:16–30.
»
Robertson, JA,
Procreative
liberty and human
genetics. Emory
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39(3)697-719,
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»
Robertson, J. A.
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Washington, DC:
American
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the Advancement of
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»
United States
Department of
Labor, Employee
Benefits Security
Administration
Website,
Frequently Asked
Questions about
Portability of
Health Coverage
and HIPAA,
available at
http://www.dol.gov/ebsa/faqs/faq_consumer_hipaa.html
