BY: CAROL A. TAUER, PhD
Dr. Tauer is professor emeritus, College of St. Catherine,
St. Paul, MN, and currently visiting faculty, Center for Bioethics, University
of Minnesota, Minneapolis.
The Second Article in a Series about the Significance
of Genetic Science for Catholic Health Care
An Ethical View
Genomic advances promise to revolutionize the provision of health
care in the coming decades. With these advances come new challenges. How can
the benefits of genomic progress be provided in a way that is ethically sound
and consistent with the values of the Catholic health ministry?Because much
genetic testing and counseling is related to reproductive decisions and reproductive
medicine, Catholic institutions may have a tendency to avoid offering genetic
services. Yet experience shows that genetic services can be provided in ways
that are consistent with Catholic values. Indeed, given the increasing importance
of genomics, "the critical question for Catholic health care is not so
much whether we should pursue genomic advances, but, rather, how we should pursue
The Catholic Health Association has prepared a Catholic vision
statement to guide our consideration of genomics. This statement, Harnessing
the Promise of Genomics: A Catholic Vision toward Genomic Advances, focuses
on three foundational principles:
- The principle of human dignity requires that we respect every human
life, its value and its potential, and that we work to eliminate practices
that discriminate among humans on the basis of perceived or actual limitations.
- The principle of relationality requires a balance between the needs
and desires of an individual, on one hand, and, on the other, the responsibilities
and relationships of that individual within the family, the community, and
the larger society.
- The principle of solidarity reminds us of our obligation to care
for those who are most needy, economically, physically, or psychologically,
and our responsibility, as we pursue medical and genomic advances, to ensure
basic health care for all.Although abstract, these three principles have
direct application in concrete situations encountered in genomic medicine.
In this article, I will examine their application in two broad areas: (1)
genetic testing and screening in relation to reproductive decisions; and
(2) screening and testing of children, including newborn screening and presymptomatic
Preventing the Transmission of Genetic Diseases
Prospective parents as well as their obstetric providers hope for the birth
of a healthy child. The healing mission supported by the Catholic Church recognizes
that preventing a disease or disabling condition is generally preferable to
trying to deal with its effects later on. The goal is not perfectionism but
the basic health status that is the foundation for normal human flourishing.
The church has long recognized this goal, even in its Code
of Canon Law, where one of the impediments to valid marriage—blood
relationship—was originally based on the belief that the offspring of two
closely related individuals were "subject to grave physical and mental
weakness."2 Blood relationship was used to identify couples
who were likely to transmit a hereditary defect, thereby implying that the prevention
of such defects was regarded as desirable by the church.
What would the church say about this matter today, when we know
much more about genomics, genetic testing, and carrier status? The bishops of
Vatican Council II provided guidance in their discussion of "responsible
parenthood." They advised couples to consider five criteria when making
- The good of the marriage
- The good of the children, both those born and those yet to come
- The couple's financial and other resources
- The couple's spiritual development
- The good of the church and society3
Some, if not all, of these criteria are affected by information
about genetic conditions and risks for transmitting genetic diseases. The principle
of relationality is expressed prominently in three of the criteria: the good
of the marriage, the good of all the children, and the good of the larger community.
Responsible parenthood mandates consideration of all these relationships when
reproductive decisions are being made.
The bishops' instruction also noted that a reproductive decision
is a personal and individual decision, to be made by the couple themselves.
It is not appropriate for medical professionals to identify the "right"
decision, nor for governments to promote eugenic programs. Even moral or religious
counselors, although they may raise issues of moral responsibility, must respect
the consciences of the individuals who have to make the decision. Respect for
human dignity requires that individual conscience, or the joint conscience of
a couple, be respected as sacrosanct.
A decision of conscience must, of course, be based on adequate
information. Thus it is essential that people at genetic risk have access to
genetic counseling and whatever testing is deemed appropriate, given their risk
status, and that they be provided with accurate scientific and medical information
as well as psychosocial resources. Although it may be more difficult to locate,
pastoral counseling from a person knowledgeable about genetics and reproduction
in the context of the couple's faith tradition is highly desirable.4
For a Catholic, responsible parenthood in relation to genetic
risks may lead to a decision not to have biological children, or additional
biological children, perhaps accompanied by the choice of adoption. Pope Pius
XII explicitly supported a couple's decision to prevent the conception of severely
diseased offspring through avoiding intercourse during the woman's fertile period
"even for the entire duration of the marriage."5 If carrier
testing were done prior to marriage, it could result in a decision not to marry
a particular person who is also a carrier. Alternatively, a couple might decide
that they are able to accept the prospect of a genetically compromised child,
along with the burdens that would bring. Many options are permissible within
Catholic teaching, and each couple must make their own decision based on the
criteria for responsible parenthood.
Attitudes toward Disabled People
People living with genetic or hereditary disabilities sometimes object to
efforts to prevent the transmission of genetic diseases. In their view, such
efforts imply that the lives of affected individuals are not of value—that
those people should not have come into existence.Efforts to reduce the transmission
of genetic diseases may affect disabled people in two ways: Such efforts may
seem to deny their right to have their own biological children, and they may
reinforce negative attitudes toward the disabled.
Regarding their own reproductive decisions, adults with genetic
diseases or disabilities have the same rights and responsibilities as everyone
else. Having experienced a particular condition, they may be in a good position
to weigh the suffering—as well as the satisfaction—that an affected
child would experience. Different people will arrive at different conclusions,
just as nondisabled persons do. On the public television documentary, Short
Stories, two married couples with achondroplasia (dwarfism) comment on their
offspring. One couple says, "There should always be people like us in the
world"; and the other couple, whose two sons are unaffected, says, "We're
glad that we are the last generation that will be this way."6
Interest in the prevention of genetic diseases may appear to negate
the value of people who have these conditions, but it need not. As with AIDS,
we must separate the disease (which we aim to prevent) from the person who already
has it. Our society has surely progressed in its understanding of the needs
of people with disabilities. While much remains to be done, legal requirements
and changing societal attitudes have resulted in accommodations and resources
that make it possible for disabled people to live full and productive lives.
The principle of solidarity with the disadvantaged places a special responsibility
on the Catholic health care ministry and the church to act as advocates for
the needs of disabled persons.
Often a health care provider will choose not to offer prenatal genetic diagnosis
on the assumption that the only reason for such diagnosis is termination of
pregnancy if the results are positive. This belief is mistaken because some
couples wish to have advance warning of a disease or disabling condition so
that they can make preparations. Preparations might include concrete plans such
as delivery at a site equipped to care for the newborn, as well as the parents'
own psychological and emotional readiness.It would not be appropriate for a
provider to condition prenatal diagnosis on a commitment by the couple concerning
how they intend to use the resulting information. Experienced professionals
in the field know that people often change their minds as to their intentions
after they have received the results of a diagnosis. As the director of a genetic
counseling program at a Catholic hospital expressed it, "We are not thought
police." The director's program provides morally permissible diagnostic
procedures and information but does not try to coerce the couple concerning
how they will use the resulting information.
Prenatal testing services offered by Catholic providers can offer
a safe context for potential parents who may feel pressure from other providers
to terminate pregnancy in response to positive test results. Although most certified
genetic counselors act as neutral providers of information, as is consistent
with their code of ethics, some obstetricians take a more assertive position
in relation to pregnancies they feel should not continue. Genetic services as
part of the Catholic health ministry can act as a counterbalance to such pressures.
Before choosing to have prenatal diagnosis through amniocentesis,
however, a couple needs to understand that the procedure itself presents some
risk to the pregnancy. If their purpose in requesting the procedure is solely
for reassurance, then they will want to examine whether this benefit outweighs
the risk. In any case, the risk of miscarriage or other harm to the fetus is
not acceptable unless there is a specific reason for testing, such as familial
history or advanced maternal age. For appropriate patients, the availability
of noninvasive screening for chromosomal disorders in the late first trimester
offers a great advantage in avoiding the risks of amniocentesis.
The discussion of possible fetal therapy in response to a positive
prenatal diagnosis should be approached with caution. There are few interventions
that can remedy genetic or other conditions during the fetal period. Maternal-fetal
surgery for myelomeningocele has been offered at several centers, but it has
not been shown that results are any better than when surgery is done shortly
after birth. Currently, this procedure is under clinical trials and should be
offered only as part of a trial.7 Gene therapy research during the
fetal period has not yet been attempted. Since gene therapy has had only limited
success with born children, it would be premature to propose any extension of
the research to fetuses.8 In almost all cases, it would be inappropriate
to suggest to potential parents that there are efficacious intrauterine therapies
for problems diagnosed in the fetus.
Expanded Carrier Screening
In 1997 a consensus conference at the National Institutes of Health recommended
that cystic fibrosis (CF) carrier screening be expanded to all couples planning
a pregnancy or seeking prenatal care. (Previously, only individuals with a family
history of CF or reproductive partners of individuals with CF were recommended
for screening.) This expansion of genetic screening represented the first large-scale
application of genomic information to a broad population.
In order to prepare its members to implement the new recommendation,
the American College of Obstetricians and Gynecologists (ACOG) prepared laboratory
and clinical guidelines in collaboration with the American College of Medical
Genetics (ACMG). In October 2001, ACOG and ACMG issued these guidelines together
with patient brochures, sample consent forms, and letters for informing patients
of various test results.9
If, having been screened during an already-established pregnancy,
a couple found they were both CF carriers, they would have to decide whether
to proceed with prenatal diagnosis for a possibly affected fetus. For a couple
at the stage of planning a pregnancy, positive test results would allow them
to consider other options. For example, they could decide not to take the risk
involved in becoming pregnant. They could also consider preimplantation genetic
diagnosis (PGD) in conjunction with in vitro fertilization. This process,
which involves the discard of affected embryos, is not morally acceptable under
Catholic teaching and could not be offered by a Catholic facility. Although
the couple contemplating PGD should be made aware of Catholic objections, the
choice, as with other decisions, is theirs to make. Since PGD involves the discard
of embryos at approximately two to three days after fertilization, some have
argued that it is morally preferable to termination of an established pregnancy.
Any genetic testing or screening program should encourage people
who test positive to inform their relatives that they are also at risk. The
ACOG clinical guidelines for CF screening include a sample letter that a patient
could send to family members and relatives. Even though it is important that
individuals who test positive inform relatives, experience shows that many people
are reluctant to be the bearer of bad news; others do not feel confident that
they are communicating the correct information. ACOG's sample letter accomplishes
three goals: It implies that family notification is normal or expected, it ensures
that the information is accurate, and it makes notification physically (if not
If CF screening is now recommended for couples planning a pregnancy, could
it also be offered to couples as part of premarriage preparation?
In the 1980s, a student of mine who had returned to college after
raising her family became very interested in genetics. She was concerned that
Catholic couples had little assistance in making decisions within the context
of church teaching. She prepared material on genetics to be used within the
premarriage sessions required for marrying in a Catholic church. The material
included an informational packet and a family history form to be completed by
the prospective bride and groom. The aim was not to provide professional genetic
counseling, but, rather, to encourage couples to discuss what they would do
if certain types of situations arose. Did they agree or disagree, for example,
on the acceptability of abortion in case of fetal defect? The family history
might also identify couples who could benefit from professional genetic counseling,
possibly leading to genetic testing for a specific condition. My student worked
hard at promoting her project in Catholic parishes, but received no encouragement
Does premarriage screening make any sense? One community, the
orthodox Ashkenazi Jewish community, has had two decades of experience with
a premarital screening program, Dor Yeshorim. Young people are screened
for several genetic diseases prevalent in this community. The screening for
carrier status is anonymous, with identification only by ID number and birthday.
When two young people think they may be interested in eventual marriage, their
identifiers are checked and they are told whether or not they are maritally
This program works because the community is highly coherent and
young people are guided in their choice of spouse by their parents and rabbis.
Some years ago, Fr. Robert Baumiller, SJ, of Xavier University, Cincinnati,
attempted to implement a research trial of CF premarriage screening in a Catholic
population, but found little interest. However, if an individual knows of genetic
risk factors in his or her family, then premarriage screening of this individual
and a potential partner could lead to very fruitful discussions. If the two
persons found that they disagreed significantly on how they would handle potential
reproductive decisions, they might want to reconsider their marriage plans.
Newborn screening for genetic disorders may appear to be ethically unproblematic.
However, recent recommendations for national newborn screening standards have
raised concerns in relation to risk-benefit issues that have ethical implications.
In 1999 the Newborn Screening Task Force of the American Academy
of Pediatrics (AAP) asked the U.S. Health Resources and Services Administration
(HRSA) to address the need for uniform national newborn screening systems and
policies. HRSA turned to the ACMG, which recommended in early 2005 that all
newborns be screened for 29 conditions, most of them rare. Recommendations were
based on agreed-upon criteria, including the availability of a sensitive and
specific test that could be used 24 to 48 hours after birth and evidence that
"there are demonstrated benefits of early detection, timely intervention
and efficacious treatment of the condition being tested."10
The last criterion has caused the most controversy. Critics argue
that, except for a handful of the conditions identified, no one knows whether
helpful treatments exist, or even whether the child involved will ever show
signs of serious disease. Thus a child who tested positive might be subjected
to treatments that were of no value or possibly even harmful. Jeffrey R. Botkin,
MD, chair of the AAP's ethics committee, noted that many of the conditions "are
not well understood, the spectrum of the disease is not well understood, it
is uncertain how efficacious the treatments are, and it is uncertain how well
people can tolerate the treatments."11
Supporters of the recommendations include the March of Dimes Foundation,
which believes that it is important to obtain equity for all infants by eliminating
disparities among states concerning which conditions are screened for.12
On March 8, 2005, the Federal Register announced a 60-day comment period
on the proposed recommendations, giving pediatricians, parents, and advocacy
groups the opportunity to be heard before final recommendations were issued.13
Presymptomatic Testing of Children and Adolescents
A family that is at risk for a particular genetic condition might be interested
in having a child tested for the genetic mutation underlying the condition.
If the test is performed to make or to confirm a medical diagnosis, it will
fall under general principles governing medical care. But if the test involves
a late-onset disease, such as Huntington's disease or Alzheimer's disease, or
a predisposition to a disease such as breast or colon cancer, then the decision
will be more problematic.
Parents may request presymptomatic testing for a variety of reasons:
to gain peace of mind, to provide a basis for educational or career decisions,
to allow for early preventive or therapeutic interventions, or to act as a guide
for eventual marital and reproductive decisions, among others. When children
become aware of genetic conditions in their family and extended family, they
too may become concerned and, as a result, express an interest in testing. Adolescents
in particular may want to make their own decisions about being tested.14
The AAP opposes predictive or predispositional genetic testing
of children unless there is evidence for anticipated benefit to the child. The
academy's Committee on Bioethics noted that many at-risk adults choose not to
have such testing. That being the case, the committee said, the testing should
not be imposed on a child who is unable to make the choice for him or herself,
and who cannot undo the test once results have been obtained and communicated.15
A joint report from the American Society of Human Genetics and
the ACMG states that direct and timely medical benefit to the child should be
the primary justification for genetic testing in children and adolescents. However,
they acknowledge that substantial psychosocial benefits to the competent adolescent
may also be a justification for testing. But "if the medical or psychosocial
benefits of a genetic test will not accrue until adulthood, as in the case of
carrier status or adult-onset disease, genetic testing generally should be deferred."16
Testing specifically for carrier status is mainly directed to marital and reproductive
decisions. In some situations—for example, the Dor Yeshorim program
mentioned above—genetic screening is offered to older high school students
who may be competent but are not yet adults. Such carrier screening is rare
in the United States. The AAP recommends that it be offered only to adolescents
who are pregnant or planning a pregnancy, and who are fully informed of risks
and benefits. In the case of an unmarried adolescent, parental involvement in
the process is desirable. However, the laws of most states protect the confidentiality
of adolescent health care related to pregnancy.
- Catholic Health Association, Harnessing the Promise of Genomics: A
Catholic Vision toward Genomic Advances, St. Louis, 2004, p. vi.
- Richard L. Burtsell, "Consanguinity (in Canon Law)," Catholic
Encyclopedia, vol. 4, Robert Appleton, New York City, 1908.
- "Pastoral Constitution on the Church in the Modern World," in
Walter M. Abbott, ed., The Documents of Vatican II, Guild Press,
New York City, 1966, pp. 199-308.
- Philip J. Boyle, "Genetics and Pastoral Counseling," Second
Opinion, no. 11, April 2004, pp. 4-56.
- Pope Pius XII, "Address to Midwives," October 29, 1951, in Odile
M. Liebard, ed., Official Catholic Teachings: Love & Sexuality,
Consortium Books, Wilmington, NC, 1978, p. 113.
- Robert Byrd, Short Stories, Jerome Foundation, Minneapolis, 1997.
- Anne D. Lyerly, et al., "Toward the Ethical Evaluation and Use of
Maternal-Fetal Surgery," Obstetrics and Gynecology, vol. 98,
no. 4, 2001, pp. 689-697.
- Carol A. Tauer, "Gene Therapy, Ethics, Gene Therapy for Fetuses and
Embryos." In Thomas J. Murray and Maxwell J. Mehlman, eds., Encyclopedia
of Ethical, Legal, and Policy Issues in Biotechnology, John Wiley &
Sons, New York City, 2000, pp. 285-292.
- American College of Obstetricians and Gynecologists and American College
of Medical Genetics, Preconception and Prenatal Screening for Cystic
Fibrosis: Clinical and Laboratory Guidelines, American College of Obstetricians
and Gynecologists, Washington, DC, 2001.
- American College of Medical Genetics, Newborn Screening: Toward a Uniform
Screening Panel and System, Washington, DC, March 8, 2005; accessed
March 24, 2005, at mchb.hrsa.gov/screening.
- Gina Kolata, "Panel to Advise Testing Babies for 29 Diseases,"
New York Times, February 21, 2005, p. A1.
- Nancy S. Green, "Screening Newborns: Cast a Wide Net," letter
to the editor, New York Times, February 28, 2005, p. A18.
- Health Resources and Services Administration, "Request for Public
Comment on a HRSA Commissioned Report: Newborn Screening: Toward a Uniform
Screening Panel and System," Federal Register, vol. 70, no.
44, March 8, 2005, available at www.mchb.hrsa.gov/
(click the first button under "News").
- See Donna L. Dickenson, "Can Children and Young People Consent to
Be Tested for Adult Onset Genetic Disorders?" British Medical Journal,
vol. 318, no. 7,190, April 17, 1999, pp. 1,063- 1,065; S. Robertson and
J. Savulescu, "Is There a Case in Favour of Predictive Genetic Testing
in Young Children?" Bioethics, vol. 15, no. 1, 2001, pp. 26-49;
and "Susceptibility Testing for Children," Health Progress,
May-June 2003, pp. 11-12, 50.
- Committee on Bioethics, American Academy of Pediatrics, "Ethical
Issues with Genetic Testing in Pediatrics," Pediatrics, vol.
107, no. 6, 2001, pp. 1,451-1,455.
- American Society of Human Genetics and American College of Medical Genetics,
"Points to Consider: Ethical, Legal, and Psychosocial Implications
of Genetic Testing in Children and Adolescents," American Journal
of Human Genetics, vol. 57, no. 5, 1995, pp. 1,233-1,241.
Copyright © 2005 by the Catholic Health Association of the United States
For reprint permission, contact Betty Crosby or call (314) 253-3477.