Ethical Issues in Carrier Screening of Cystic Fibrosis and Other Genetic Disorders

CEJA Report A – A-91
Ethical Issues in Carrier Screening of Cystic Fibrosis and Other Genetic Disorders
INTRODUCTION
The recent development of a prospective screening test for the cystic fibrosis gene has raised
concerns about the benefits and risks of carrier screening. This report examines the ethical
principles governing carrier screening for genetic disorders and their application to carrier
screening for cystic fibrosis. The scientific and economic issues of carrier screening for cystic
fibrosis are addressed in a companion report by the AMA's Council on Scientific Affairs.
Ethical Principles Implicated by Carrier Screening for Genetic Disorders
Beneficence. The principle of beneficence requires that the physician promote the health and
welfare of patients. It also includes working to prevent or remove harm from patients. One of the
primary purposes of carrier screening is to reduce the pain and suffering and relieve burdens
produced by genetic disorders. Ethical considerations are raised most often in those cases where
the disorder is of a serious nature but no curative therapy exists. Reduction of pain and suffering
is achieved primarily through the reduction of incidence of the disorder, i.e., by avoiding the
births of affected children. This may be accomplished through the use of artificial reproductive
methods such as artificial insemination or egg donation or by performing prenatal diagnosis
followed by selective abortion. Alternatively, knowledge of carrier status allows couples who
would attempt pregnancy in any case the opportunity to prepare for the possible birth of an
affected child.
Patient Autonomy. The principle of patient autonomy requires that patients are given the
opportunity to make their own determinations regarding medical treatments. Therefore, patients
must give informed consent before genetic testing is performed.
An important purpose of carrier screening is to maximize autonomous decisionmaking for
individuals with regard to reproduction. Previously, couples ordinarily only discovered that they
were both carriers of a genetic disorder after the birth of an affected child or because close
relatives manifested the disorder. Now, ideally, preconception screening can determine the status
of individuals who have a high probability of being carriers, as well as those who may not have
had previous indication that they may be carriers.8-29 For example, when an individual has a close
relative affected by a genetic disorder, the individual and his or her spouse can now be tested; in
the past, many such couples may have chosen to forgo childbearing rather than risk the birth of an
affected child. Knowledge that neither or only one partner in a couple is a carrier may relieve the
couple of some anxiety about reproduction. Couples in which both are carriers may choose from
several reproductive options, including use of artificial reproduction, avoidance of conception,
and use of prenatal diagnosis to detect and, if appropriate, terminate an affected fetus.
Justice/Fairness. The principle of justice requires that both benefits and burdens of medical
technology be distributed equitably. Concern has been raised regarding issues of access to and
cost of screening and counseling services. Currently, access to prenatal care, particularly to
genetic counseling services, is skewed in favor of well-educated couples from the middle and
upper-income levels.14 Problems with access to medical services is not confined to obstetrical and
genetic services. However, because genetic risk factors for genetic disorders are generally
uniform across socioeconomic boundaries, the ethical principle of justice dictates that access to
genetic screening must be uniform across socioeconomic boundaries.15
© 1991 American Medical Association. All Rights Reserved.

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Nonmaleficence. Physicians have an ethical duty to avoid harm to patients. Genetic technology
frequently raises concerns regarding the communication and comprehension of risks. The
principle of informed consent requires that patients be given enough information to enable them
to make intelligent choices about their treatments. In the context of genetic screening, harm may
arise from the inappropriate communication of results. For both carrier screening and prenatal
genetic testing, diagnoses are often heavily dependent on complex estimations of risk which may
not be easily understood by laypeople. The communication of complex risk information may be
liable to confusion or unnecessary anxiety among patients. The duty of nonmaleficence requires
that physicians minimize confusion and anxiety by locating the most effective methods for
communicating complex risk calculations and explaining complicated genetic information.
Confidentiality. The principle of confidentiality obligates the physician to maintain the privacy of
the patient to the greatest possible degree. Exceptions to confidentiality are made only for
situations which present overriding social considerations. The obligation of confidentiality is
especially compelling in the context of genetic technology because of the highly personal nature
of genetic information. Genetic information about an individual that is revealed to third parties
may negatively impact an individual's social relations, employment status, or insurability. Also,
decisions which may result from genetic information may implicate intensely personal moral or
religious beliefs and values of individuals.
Screening for Cystic Fibrosis
The ability to screen for genetic disorders is not new. Tests for carriers status of certain genetic
disorders, such as Tay-Sachs disease and sickle-cell anemia, have existed for some time. In
addition, certain types of genetic analysis, such as “linkage analysis,”29 have already been
successfully employed to identify genetic disorders in individuals.
Screening for cystic fibrosis has special significance because cystic fibrosis is a relatively
common genetic disease. Cystic fibrosis is a potentially lethal autosomal recessive disorder
characterized by chronic lung disease and pancreatic insufficiency,l,2,29 and is the most common
serious genetic disorder among the United States Caucasian population. Approximately one in 25
people of European heritage are carriers for cystic fibrosis.1 Assuming random mating, roughly
one in 400 Causasian couples will be a two carrier couple.3 A couple in which both individuals
are carriers for cystic fibrosis will have a one in four chance of having a child affected by cystic
fibrosis. Cystic fibrosis is relatively rare in non-Caucasian populations.3,4 Studies have also shown
that the frequency of cystic fibrosis is lower among certain white sub-groups. Presently, median
survival of a person with cystic fibrosis is 25-27 years, with some individuals reaching age 40 or
greater.2
Until recently, direct detection of carrier status for cystic fibrosis was not possible.4,5 Within the
last few years, however, researchers have isolated a specific deletion (ÆF508) on chromosome
seven which is responsible for approximately 75% of cystic fibrosis chromosomes in white
individuals in the United States.4,5 Other deletions have been identified which are responsible for
an additional 10% of cystic fibrosis chromosomes.31 In other words, the test has a false negative
rate-of at least 15%. Once the false negative rate has been taken into account, testing for this
deletion can identify approximately 72% of couples who are at a one in four risk of having a child
with cystic fibrosis.1,3I
The resolution of the ethical issues raised by carrier screening for CF will have widespread and
significant ramifications. Past carrier screening efforts were aimed at genetic disorders which
were prevalent only in certain small, well-defined racial or ethnic groups, for instance, screening

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for sicklecell anemia in blacks or Tay-Sachs disease in Ashkenazic Jews.16 Unlike previous
screening programs for carriers, testing for CF cannot be limited to a relatively small, well-
defined population which is at an elevated risk.3 Due to the absence of significant indications for
screening besides European heritage, essentially the entire white population of the U.S. is “at
risk” for being a CF carrier.3
This fact has far-reaching social and economic implications. Introduction of carrier screening to
the general U.S. population could precipitate a demand for genetic screening and counseling of
unprecedented.proportions.3 Certainly, current resources, particularly those of the necessary
skilled personnel, are not sufficient to meet this demand.1 In addition, the commercial potential of
widespread carrier screening is enormous. The pressure of market demand could influence the
course of screening for CF carriers in profound ways.1,3
Screening for cystic fibrosis is also of critical significance because it could be used as the test
case for the handling of other genetic disorders. The recent commitment by the National Institutes
of Health to map the human genome means that the discovery of the source of many other genetic
disorders is imminent. The success or failure of carrier screening for CF may not only impact the
course of future carrier detection programs, it also has the potential to shape the role that
biotechnology will play in our society.
ETHICAL ISSUES RAISED BY CARRIER SCREENING
Experience with Past Carrier Screening Programs
Previous carrier screening programs have had varying rates of success. Both the successes and
failures of past programs can be looked to in order to ascertain minimum requirements for
implementing future programs.29
Carrier screening for Tay-Sachs disease, which was begun in the early 1970s, is widely regarded
as successful. Several elements of the Tay-Sachs screening program contribute to its success.
Tay-Sachs disease occurs among Ashkenazic Jews, a relatively small and well-defined
population. The test for Tay-Sachs disease is simple, accurate, and relatively inexpensive. The
screening program was preceded by extensive efforts to educate a clearly defined target
population of the need for and nature of carrier screening. Pilot tests were also preceded by
careful planning which included the active involvement of community leaders and institutions.3
The active involvement of the targeted communities has resulted in a high percentage of
participation in screening by the high-risk population.
Screening for Tay-Sachs disease is also successful because of the severe nature of the disease.
Tay-Sachs disease is an incurable, progressively degenerative disease which is fatal at an early
age. The severity of the disease was a compelling justification for active efforts to prevent births
of Tay-Sachs children. Prenatal diagnosis for Tay-Sachs disease was available at the time of the
first carrier screening programs, which maximized the reproductive options for two-carrier
couples. In addition to avoiding conception or using artificial means of reproduction, a couple
could conceive and abort any fetuses afflicted with Tay-Sachs disease.
Screening for sickle-cell anemia was conducted differently from screening for Tay-Sachs disease
and yielded negative results. Sickle-cell anemia manifests itself among black populations, also a
relatively small and well-defined population in the United States. Unlike Tay-Sachs disease,
which is consistently severe and debilitating, sickle-cell anemia can manifest itself with varying
degrees of severity. At the time that carrier screening was initiated, there was no prenatal

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diagnosis for the disease and artificial means of reproduction were still experimental, so the only
option available to a carrier-carrier couple was to avoid reproduction altogether.
Screening programs for sickle-cell evolved rapidly, with little preliminary education of the
targeted population, little or poor planning, and inadequate attempts to involve community
leaders or other community members in the screening process.3 The objectives of screening were
unclear and target groups for screening were poorly chosen. For instance, screening efforts were
often aimed at schoolchildren, who had no use for the information. Many programs used tests
which did not differentiate between carrier and affected status. In addition, even where carrier and
affected status could be distinguished, the.communication of screening results frequently
confused or ignored the difference between being a carrier for the sickle-cell gene and having
sickle-cell anemia.3,16
To complicate matters, a large number of states implemented mandatory screening programs at
this time. Adequate safeguards of confidentiality of testing results were not maintained.16 There
were instances of insurance and employment discrimination based on testing results. Lack of
prenatal diagnosis for the disorder, lack of legitimate goals of screening, poor communication of
goals, and the variable severity of the disease led many black populations to suspect
discriminatory motives behind the implementation of mandatory programs.16
Lessons learned as a result of these screening efforts are invaluable for the development of
screening programs for cystic fibrosis. Any future carrier screening for genetic disorders (1) must
be based on clear, well-thought out objectives, (2) must be preceded by extensive education and
planning, (3) must include substantial community-based support and co-operation, and (4) must
have strict safeguards for confidentiality.
There are critical differences, however, between the nature of cystic fibrosis and the type of
genetic diseases for which we have previously screened. For instance, the risk of being a carrier is
uniform across many different social, economic, ethnic, cultural, and educational groups.
Population screening can not be restricted to a small, well-defined target group at an elevated
risk. Cystic fibrosis, similar to sickle-cell anemia, manifests itself with varying degrees of
severity in individuals. The need for screening may be less compelling for disorders which vary
in the degree of debilitation in individuals. While tests for both sickle-cell anemia and Tay-Sachs
disease are simple, accurate, and relatively inexpensive, current tests for cystic fibrosis have
significantly high false negative rates and may be costly.' In order to implement carrier screening
for CF in an effective and just way, pilot studies to establish effective methods of education,
counseling, and proper communication of risks to all groups are essential before general
population screening can begin.
Potential Threats to Patient Autonomy
Although carrier screening is intended to facilitate autonomous and informed reproductive
decision making legitimate concerns have been raised regarding potentially detrimental
influences of genetic testing on reproductive decisionmaking. 3,9,12 For those genetic disorders in
which there is no effective therapy, the primary intention of screening is to avoid the birth of
affected children. While this may ultimately reduce the incidence of genetic disorders, the very
ability to avoid the births of affected children may create coercive pressures upon the
decisionmaking process. Couples choosing to forgo testing, or to forgo the termination of
pregnancy and bear a child with CF may be subject to blame or stigmatization for making an
“irresponsible choice.” 3 Some couples may be perceived as responsible for “burdening” society
with an affected birth which could have been avoided. Couples may be pressured either to abort

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any affected pregnancies or to avoid reproduction altogether. For instance, one insurance
company tried to deny health care coverage to an infant with cystic fibrosis on the ground that
since prenatal diagnosis had been positive for CF, then the disease constituted a preexisting
condition. (The company eventually provided coverage.) Blame or stigmatization for certain
reproductive choices may be aimed at women in particular, since the responsibility for carrying a
pregnancy to term is often regarded as ultimately belonging to the “Perceptions of a couple's
responsibility for Causing” the birth of an affected child may exacerbate the morally troubling
nature of decisions about reproduction. In addition, if the incidence of genetic disease is reduced
through carrier screening, those remaining individuals who are affected may be subject to
increased prejudice or stigmatization .
Reproductive choices are regarded by both medicine and society as intensely private decisions.
The appropriate choice, in the context of possibly having a child with a genetic disorder, is often
uncertain from an ethical perspective. Frequently, evaluations of risks and benefits are heavily
dependent on the moral or religious convictions of the individual or couple. For these reasons, the
information regarding the reproductive risks and benefits of genetic screening is best evaluated by
those who will bear the risks and receive the benefits. 11,12 Care should be taken to avoid placing
moral judgments or pressure on parental decisions regarding the use of information derived from
genetic testing. The Council has previously recognized this general principle in its Current
Opinion 2.12, on genetic counseling:
Physicians...may decide that they can engage in genetic counseling and screening but
should avoid the imposition of their personal moral values and the substitution of their
own moral judgment for that of the prospective parents.13
It is important that the process of enhancing reproductive autonomy through genetic technology
not have the unintended and opposite effect of restricting reproductive options through negative
or coercive pressures on decision making. 3
C. Ethical Considerations in the Communication of Test Results
Medicine has traditionally placed high value on the patient's right to confidentiality in medical
and health information. Informed consent is required for disclosure of an adult patient's medical
information in almost every situation. Exceptions are legitimately made only in the most extreme
cases, such as to avert a serious harm to identifiable third parties, 25 to prevent the spread of
serious and contagious diseases, or for other overriding social considerations. 26 This principle
should also govern the release of the results of carrier screening for genetic disorders.
The results of individual test results from carrier screening will most likely be of interest to
parties other than those individuals who are screened. Among those who may be interested in the
results are biologically related third parties, employers 27 and insurers. Both employers and
insurers may be interested in information regarding the genetic status of individuals for use in
calculations for business decisions. However, these relatively narrow interests do not constitute
an overriding social consideration which would outweigh the physician's obligation to protect the
confidentiality of the patient. In addition, the potential for inappropriate use of this information by
these parties has prompted the President's Commission for the Study of Ethical Problems in
Medicine to state:
Because of the potential for misuse as well as unintended social or economic injury,
information from genetic testing should be given to people such as insurers or employers
only with the explicit informed consent of the person screened. Further, the agencies in

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question should develop forms for specific rather than blanket consent, to prevent
unnecessary disclosures and to ensure the screen control over access.
The stronger challenge to the patient's right to privacy may come from close relatives of the
person who is screened and receives a positive test result. The knowledge of carrier status gained
from testing may be able to prevent serious harm to identifiable third parties, such as the progeny
of relatives. However, interest in the prevention of harm to identifiable third parties, which may
override confidentiality in other narrowly drawn situations,25 does not apply strongly in the case
of carrier status. The actions of a carrier cannot “cause” or “spread” the disorder in the manner of
a communicable disease. Also, the likelihood of preventing a harm may not be great; the
possibility that the relative of the carrier and the relative's partner would both be carriers and then
give birth to an affected child are still relatively small. Concerns about informing related third
parties are also diminished since relatives of identified carriers can be screened themselves. In
general, confidentiality should not be breached to inform related parties of an individual's carrier
status.
Physician participation in programs which make access to screening for CF contingent upon the
disclosure of results to unrelated third parties such as insurers or employers are ethically
problematic. Such prerequisites may burden autonomous reproductive decision making and
interfere with the duty of the physician to protect the patient's interests. Many individuals may
choose to forgo testing rather than risk the disclosure of results to third parties.
Equally problematic are programs which establish substantial or coercive incentives for the
couple to make a particular reproductive decision. While individual physicians cannot be
responsible for the business practices of health insurance companies or employers, the physician
still has ethical obligations to protect the patient's medical interests to the greatest extent possible.
Physicians should minimize the potential for inappropriate influences on patient decision making
by outside parties. The ethical principles of beneficence and patient autonomy require that
patients give specific informed consent for disclosure to third parties. This consent should inform
patients which information may be revealed, to whom it may be revealed, and potential and likely
uses of the genetic information. Patients should also be informed whether alternative methods of
obtaining the same information exist (e.g., the patient could pay for the test independently or the
patient could be directed to a community health center which performs testing).
Potential Difficulties in the Communication of Genetic Information to the General Population
For some genetic disorders, less than perfect rates of sensitivity result in a relatively high false
negative rate. In the case of cystic fibrosis, 25% of the deletions responsible for CF chromosomes
have not yet been identified. Only 50% of couples who are at one in four risk of having a CF
child would be identified. The communication of risks to couples is currently complicated, since a
negative result reduces the risk of being a carrier but does not eliminate it. Screening performed
with the current false negative rate would risk causing a false sense of security for couples who
are mistakenly identified as being at no or low risk for having a cystic fibrosis child. It may also
cause difficulties in the communication and understanding of the risk factors involved. However,
as additional mutations causing cystic fibrosis are identified, the false negative rate will decrease
4 and the risks of false negatives will be greatly reduced.
Several authors have also suggested that the potential confusion arising from complicated risk
estimations justify postponement of population screening programs for cystic fibrosis until a 90
or 95% sensitivity rate could be achieved. 2 However, the current false negative rate by itself is
not an ethical justification for postponing population screening. Negative results would be highly

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problematic for couples, since risks would be reduced but not eliminated, complicating already
morally problematic reproductive decisions. Estimations of risk may be complex and difficult to
comprehend. However, information which could aid the informed decision making of some
couples should not be withheld on the basis that not all couples may understand complex
information' or that the decisions are morally troublesome. Rather, it is the responsibility of the
medical profession to develop effective methods of communicating risk or other complex medical
information to patients and the general public. The exact evaluation of those risks is best made on
a case by case basis by the particular couple, based on their own personal values, rather than by
physicians individually or medicine as a whole.
Another serious concern is the high rate of false positives which results when a screening test is
used to detect a low-prevalence disease. Wilfond and Fost have estimated that, even assuming a
high rate of test specificity for carrier status, the false positive rate would approach 50%.1 In the
case of CF, half of the couples who are identified as being at an elevated risk for producing a CF
child would have been falsely identified as such. Repeat carrier testing after positive results, the
development of confirmatory tests, and subsequent prenatal tests for some couples would
alleviate or eliminate the false positive rate. The primary concerns for false positives are
unnecessary anxiety about carrier status, risks of additional confirmatory testing, and the
possibility that significant reproductive choices will be made based on false information. Some
couples, particularly those who do not feel selective abortion is an appropriate option for them,
may choose to avoid childbearing or to undergo artificial reproduction rather than chance
conceiving an affected fetus. However, to withhold screening from all couples because only half
of couples would be properly detected would deprive 50% of at-risk couples from important
information for their reproductive decision making. 19
Some experts have stated that population screening should not be initiated until the completion of
pilot studies which demonstrate effective procedures for counseling and education, develop
comprehensible methods for the communication of risks to all socioeconomic and cultural
groups, and minimize potential for social stigmatization.1, 3 The difficulties encountered by early
attempts at sickle-cell screening and the need to minimize inappropriate influences on
reproductive decision making highlight the need for programs which include effective education
and counseling, ensure confidentiality, and communicate risks in a clear fashion. This need
justifies postponing population screening until appropriate pilot studies are completed.
Physician obligations regarding the provision of carrier testing
The potential market for CF screening tests may prompt developers or manufacturers of the test
to appeal to physicians and/or the public in order to encourage wide use of the CF carrier test
before adequate pilot testing is completed. Patients may receive information about the availability
of such tests either on their own or through advertising or marketing efforts by manufacturers of
tests, and may be prompted to request screening. What are physicians' ethical obligations
regarding carrier testing before adequate information is available to evaluate the consequences of
testing?
If individuals have a close relative with CF, then testing the individual or the individual's partner
using the carrier test for the DF508 deletion is appropriate.1 Testing for carriers among close
relatives would be almost 100% informative, since directly testing for the DF508 deletion could
be combined with linkage analysis in order to minimize the rate of false negatives for this
particular sub-group. This small group is already known to be at an elevated risk, and testing can
be considered medically indicated.

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A physician's obligation to provide carrier testing for cystic fibrosis in absence of an elevated risk
is less clear. Prevailing practice norms among geneticists emphasize patient autonomy and fully
informed decision making. A study of the attitudes and practices of U.S. geneticists showed that
when faced with an uncertain result from prenatal testing, or when the results of prenatal testing
were of disputed importance, the great majority of geneticists endorsed presenting the
information to the patient or patients, acknowledging any uncertainty or disagreement about the
results, and allowing the couple to decide on their own which course of action is most appropriate
for them.73
However, the Council has previously stated that a physician may ethically refuse to perform
genetic counseling or testing for personal moral reasons provided that the physician alert the
parents that genetic services are available elsewhere. 13 Also the American Society of Human
Genetics has stated:
...while it is recognized that testing of highly motivated individuals in the general population may
occur, it is the position of the American Society of Human Genetics that routine CF carrier
testing of pregnant women and other individuals is NOT yet the standard of care in medical
practice. (emphasis in original)30
Thus, it would not be unethical for a physician to refuse to perform or refer for genetic screening
for CF before pilot studies establish adequate methods of education and counseling for population
screening.
Defining physician's ethical obligations to inform patients about genetic tests however, also
implicates concerns about legal obligations and liabilities. Suits against physicians who did not
inform patients of the availability of tests which could have prevented specific harm have been
allowed in most states.3,12,32,34,35 .
Ordinarily, physicians who comply with the accepted standard of care in providing patients with
information about specific genetic tests fulfill their legal obligation to the patient.36,45 However,
some legal experts have warned that physicians cannot be guaranteed protection from liability for
failing to perform or refer a couple who requests CF carrier testing, even if the couple was not at
an elevated risk.36,37 It is likely that some highly motivated or informed individuals will
specifically request testing.30 Failure to perform or refer for testing in these cases is likely to incur
liability.32,34,39-41
Further, failing to offer the test to patients, even in absence of a specific request or in the absence
of an elevated risk for CF, may also carry a small risk of liability.32,34,36,37,40,42,44 A few courts have
specifically rejected the claim that a physician's duty to inform patients of diagnostic tests is
limited to those instances in which prospective parents ask questions and request specific care.45,46
Physicians are likely to be the sole or primary source of information for prospective parents
regarding the genetic health of future children.47 Some courts may choose to focus on the fact that
the prospective parents would consider the results of the current CF tests, while not conclusive, to
be material to their childbearing decisions .36,45,47 However, a physician's liability in such cases is
likely to be highly dependent upon the practices prevalent in the physician's community 45 the
extent to which patients would have access to~facilities which perform quality CF testing, and the
extent to which the court would consider the test to be experimental.43
In contrast, routinely offering screening tests to couples before adequate safeguards have been
established may also exacerbate present problems with testing, and thereby increase liability
risks.33,41,46 Offering screening in the absence of established methods of education, counseling,
and communication of risk information may result in the inaccurate communication of results,
inappropriately influencing already morally problematic decisions.

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It is important to note that as a matter of public policy, it would be unwise for courts to allow the
threat of liability to prompt physicians to offer genetic tests before being accepted as the standard
of care.
GENERAL ETHICAL AND SOCIAL POLICY CONSIDERATIONS
Implementation of Population Screening
Mandatory Screening. Mandatory screening for CF carriers within the general population cannot
be ethically justified. Mandatory screening could yield some benefits. Some possible benefits
could include equal access to screening through the equal allocation of resources, minimization of
burden to society through the reduction of the incidence of CF, and promotion of genetic health.
However, mandatory testing violates fundamental notions of reproductive autonomy and
informed consent. The decision to be tested for genetic information requires subjective
evaluations of social, moral, and cultural values. These evaluations should be made by the couple
or individual who would undergo screening. Some couples would choose to undergo childbirth
regardless of risk estimations, and other couples may not consider the reproductive alternatives,
such as selective abortion or artificial insemination, to be appropriate for them.
There is also reason to believe that well-developed and well-executed voluntary screening
programs could produce similar benefits without violating fundamental ethical principles of
autonomy and informed consents Screening programs for Tay-Sachs disease indicate that
voluntary programs which maximize cooperation and coordination within the communities and
the screened populations can achieve high rates of success.
Targeting the appropriate population for screening. Ordinarily, the populations targeted for
screening or testing are those at risk, or at an elevated risk, for a disorder. Within the United
States, essentially the entire Caucasian population is at an elevated risk for being a CF carrier.
However, carrier screening for genetic disorders should be limited in some ways.
Carrier screening should be at least limited to those who are of reproductive age. The knowledge
gained from carrier screening is medically significant only in the context of potential risks to the
health of future generations. The social risks of information regarding carrier status, such as
possible anxiety, stigmatization or discrimination, outweigh any benefits which may be derived
from the communication of risk information to those who cannot have children.22
The optimal time for possessing the results of carrier testing would be before conception occurs.
Screening could thus be routinely offered to all individuals of reproductive age. Routine,
nonjudgmental screening of all individuals of reproductive age might also serve an educational
function. A large population would receive important information about the nature of genetic
disease, and the routine nature of testing may minimize misunderstanding or prejudice toward
carriers or those affected. Carrier status might become a routine consideration for individuals,
similar to ascertaining Rh status, for reproductive decisions. On the other hand, resources may be
wasted by testing many who would have little or no use for the information.
Other types of limitations have been suggested. There have been proposals to limit screening to
couples specifically planning to have children. This would minimize demands on resources, but
would have too many risks. Many pregnancies are not planned, and many couples who do plan
their pregnancies do not seek preconception medical examinations. In these cases, reproductive
options for couples who both tested positive would be limited by the fact that conception had

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already occurred. There are also proposals to limit screening to married couples or couples
planning marriage. However, many married couples do not plan to have children and couples who
have children are not necessarily married or planning marriage. Limitations based on marital
status or intent to have children would not be appropriate.
Other limitations on the population to which screening is offered would not be appropriate. For
instance, early prenatal diagnosis procedures were occasionally denied to couples who did not
consider abortion an option if an affected fetus were detected.23 Consensus has since developed
among physicians and geneticists that willingness to undergo abortion should not be a
requirement for access to diagnostic services.23 Even for couples who plan to carry an affected
pregnancy to term, prior knowledge of the status of the fetus may be invaluable to the couple's
preparation for the child. Similarly, limiting access to carrier screening based on the patient's
willingness to use the information in a particular way cannot be justified. Limitations on access to
screening would also be inappropriate if based on factors such as socioeconomic status, race, sex,
ethnicity, except where such factors also determine risk level.
In the context of the allocation of scarce health care resources, an argument may be made for
making screening available only to those who specifically request it. However, such a practice
risks violating the ethical principle of justice. Under a request-only system, individuals who are
better-educated and have greater access to health care information would be much more likely to
request, and consequently receive, screening. Others with an equal risk for being a carrier but
lacking certain kinds of education or access to information would be placed at a disadvantage for
access to screening services.
While routinely offering testing is appropriate, routinely recommending it is not. Uniform
recommendations for genetic screening may also carry potential risks. Since the social influences
and consequences of increased reliance on genetic technology for this purpose are mainly still
unknown, patients should make the choice to utilize the technology in the context of their own
values to the greatest extent possible. Routinely offering but not recommending access to
screening allows individuals this possibility without undue influence. One exception would be
couples in which one individual has a close relative with cystic fibrosis.
Once appropriate ethical requirements are met, decisions regarding the availability of screening
will probably have to be on a societal level, since questions of resource distribution and social
policy are heavily implicated. Once the availability of carrier screening has been limited to a
particular population, then the most just way of distributing the benefits and risks of testing would
be to routinely and uniformly offer it among that population.
Ethical Issues Implicated by Carrier Screening for Genetic Disorders Indicate a Need for
Coordinated Social Policy
The Need for Broad-based, Well-Coordinated Social Policy to Direct Screening Efforts. The
ethical issues which arise from the implementation of genetic screening indicate a need for well-
conceived, well coordinated social policy. Prominent among the ethical requirements for
screening is the need to ensure uniform access to screening services among at-risk populations.
While physicians play a role in providing access to medical services, facilitating access to health
care requires widespread cooperation among many entities within society, including physicians,
patients, insurers, employers, government, and regulators.
Genetic screening and other genetic technology have the potential for significant impact on
society and our social structure. One of the most widely heralded dangers is that of using genetic

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