COMMENTARY

GENETIC DISORDERS AND CHOICES 

ABOUT REPRODUCTION

The Status of Individuals with Respect to
Genetic Disorders

Different genes affect individuals in different ways.
A person may have the gene for a
particular genetic disorder and actually have the symptoms of the disease. A
person may have the gene for a particular
genetic disorder but be asymptomatic either because the onset of the disease
will occur later in life (e.g., Huntington disease (1) ) or because the disease
is under control (e.g. hemochromatosis (2) ).
Some genes make it virtually
inevitable that an individual will eventually show the symptoms of the disease
(e.g., Huntington disease) whereas other genes merely make an individual more susceptible
to developing a disease (e.g, heart disease, late-onset Alzheimer disease).
(3)   An individual may be a carrier of a genetic disorder, that is, have one copy of a gene
associated with a recessive genetic disorder (4)  and one copy of its normal counterpart.  A carrier typically never shows symptoms of the disease
because the normal copy of the gene is sufficient for normal functioning, but
can pass on the defective gene to children. (5)

Types of Genetic Disorders and Patterns
of Inheritance

A human being has twenty-three pairs of chromosomes.
One member of each pair is received from the father, and the other member
from the mother.  Chromosomes carry genes,
the basic units of  heredity.
Genes are composed of DNA base pairs, which work through coding for the production of
proteins. (6)

Chromosomal pairs one through twenty-two are called autosomes.
The twenty-third pair constitutes the sex
chromosomes.  There are two
types of sex chromosomes, X and Y.  A
male is XY, while a female is XX.

Chromosomal disorders arise from ‘errors in the packaging of the genetic material.’
(7)  Either too much chromosomal
material is present, or too little is present, or the chromosomal material has
been misplaced and rearranged. (8) In a few cases these disorders ‘are
inherited from one of the parents who is a carrier,’ but ‘in the vast
majority of cases they arise when a defective germ cell (the sperm or the ovum)
is produced or when the cell is subjected to some change.’ (9)
Most pregnancies with chromosomal disorders are spontaneously aborted,
but some go to term.  (10)  The degree
of disability among children with chromosomal abnormalities is variable. (11).
For example, in Klinefelter syndrome the male child has an extra ‘X’
chromosome; affected males are infertile, have small testes and poorly developed
secondary sex characteristics, and may be tall and have subnormal intelligence.
(12) A child with trisomy 13 (an extra chromosome number 13) usually dies
shortly after birth. (13)   Trisomy
21 (Down syndrome) is characterized by mental retardation, but the degree of
retardation will vary from child to child. (14)

An autosomal dominant disorder occurs when ‘an abnormality in one
member of a pair of genes is sufficient to cause the defect to appear.’ (15)
Autosomal dominant diseases include Huntington disease, whose symptoms of
uncontrolled muscular movements appear about age thirty-five and progress
through neurological degeneration (including dementia) to death over a ten- to
twenty-year span (16); neurofibromatosis, which involves the occurrence of skin
tumors (often benign) and sometimes skeletal changes (17); adult onset
polycystic kidney disease, which involves the formation of cysts in the kidneys
and brings on high blood pressure and kidney failure (18); and Marfan syndrome,
a disorder of connective tissues which manifests itself by tall stature, extra
long digits, progressive involvement of heart valves and major blood vessels,
and impaired vision which may progress to blindness (19).
The child of a parent with an autosomal dominant disorder has a 50%
chance of being born with the disorder. (20)

An autosomal recessive disorder ‘is caused by abnormalities in both
members of a pair of genes.’ (21) Both parents may ‘carry a single dose of
the gene on one chromosome’ but ‘have a normal gene on the other chromosome,
which prevents the appearance of the disease in the carrier  parent.’ (22) A child must get one abnormal gene from each
parent in order to be afffected by the disease.
(23)  Examples of
autosomal recessive disorders are phenylketonuria (PKU), an error of
metabolism which can result in mental retardation, growth disturbance, and
eczema if not treated with a special diet (24); Tay-Sachs disease, which causes
progressive deterioration (viz., paralysis, dementia, blindness) and eventual
death in early childhood, usually before four years of age (25); cystic
fibrosis, in which a high-protein viscous material interferes with the normal
functioning of glands throughout the body, especially the lungs, pancreas, and
sweat glands (26); and sickle-cell anemia, a blood disorder which may involve
chronic anemia, impairment of growth and development, leg ulcers, and painful
crises caused by the obstruction of small blood vessels (27).
Parents who are both carriers of an autosomal recessive disorder have a
25% risk of producing an offspring affected by the disease and a 50% risk of
producing normal-appearing carriers. (28)

An X-linked recessive disorder occurs when the abnormal gene is carried
on the X chromosome. (29)  A female
‘with an abnormal gene on one chromosome will usually not have symptoms
because of the normal partner gene on the other X.’ (30) On the other hand,
‘if a gene on the X chromosome of the male is abnormal, there is no partner
gene on the Y to compensate, and the symptoms of the disorder will occur.’
(31) Hence, ‘X-linked disorders are carried by females, but primarily affect
males.’ (32)   Such diseases
include Duchenne muscular dystrophy, hemophilia, and
some forms of growth hormone deficiency. (33) A carrier female has a 50%
chance of producing a son affected with the disease, and a 50% chance of
producing a daughter who will be a carrier. (34)

In an X-linked dominant disorder the abnormal gene is carried on an X
chromosome of either a male or a female. (35)
If the mother is the carrier, there is a 50% chance that the child will
be born with the disorder; all daughters of an affected father will have the
disease. (36) An example  of an
x-linked dominant disorder is incontinentia pigmenti, which brings about swirls
of pigment in the skin that resemble swirls of paint or marble cake.
This disease may also involve hair loss, visual problems, missing or
peg-shaped teeth, and seizures. (37)

Multifactorial disorders
are caused by a combination of genes inherited from parents and environmental
factors. (38) In other words, ‘defective genes predispose individuals to a
condition, but other factors appear necessary for the occurrence of the
disease.’ (39) Defects due to multifactorial inheritance include congenital
heart disease, most types of cleft lip/palate, club foot, and neural tube defect
(e.g., anencephaly and spina bifida). (40)

Genetic Counseling, Testing, and
Screening

Persons with questions about disorders that ‘run in the family’ or
with concerns about having a child with a birth defect may be advised to seek
genetic counseling.  For example,
genetic counseling may be advised in the following cases:

‘
Women who are pregnant or a planning a pregnancy in their mid-30’s or
40’s.

‘
Couples who are first cousins or close blood relatives.

‘
Persons of specific ethnic or racial backgrounds with a higher incidence
of certain disorders, e.g., Tay-Sachs in Jewish or French Canadian populations,
sickle cell disease in African Americans, cystic fibrosis among whites,
Thalassemia among Italians, Greeks, and Asians.

‘
Women with a history of two or more pregnancy losses, stillbirths, or
early infant deaths.

‘
Persons or families affected with mental retardation, sensory deficits or
learning disabilities.

‘
Persons or families with a history of cleft lip or palate, spina bifida,
congenital heart defects, short stature, club foot, or other physical birth
defects.

‘
Persons or families with a history of a known genetic disorder, e.g.,
Huntington disease, cystic fibrosis, neurofibromatosis, muscular dystrophy, PKU,
hemophilia or polycystic kidney disease.

‘
Persons or families with a history of a known chromosomal disorder, e.g.,
Down syndrome, Turner syndrome, or Fragile X.

‘
Families with two or more members who have been diagnosed with cancer,
diabetes, schizophrenia, manic depression, coronary artery disease or with other
disorders and conditions that appear to ‘run in the family.’ (41)

Genetic
counseling may involve  testing to
determine the genetic status of the client(s), and/or prenatal diagnosis if a
woman if pregnant. (For a description of methods of prenatal diagnosis and of
the risks and benefits of these procedures, see the entry Prenatal Diagnosis, Commentary, pp.  3-5.)  Genetic
counselors generally adopt a nondirective
approach to working with clients.  The
counselor will give clients  relevant
medical information and describe the options available, but will not tell
clients  which course of action to
take.  The task of the counselor is
seen as one of assisting  clients to
make a decision in accord with their own values, beliefs, and goals.
Because of this nondirective approach, it is important that Catholic
couples be well informed on Church teaching regarding reproductive options when
undergoing genetic counseling.

An
individual may become involved in a genetic
screening program, which involves testing a particular population for a
specific genetic disorder (e.g., testing African Americans for sicke cell or  French Canadians for Tay-Sachs).
Participation in a screening program with a positive result may well be
followed by participation in genetic counseling.

Individuals
who participate in genetic screening and testing programs should give serious
thought to responsibilities to share genetic information with family members
(who may share the  same genetic
status) and with a spouse or potential spouse who may have to assume caregiving
responsibilities and with whom reproductive decisions will be made.

Genetic Disorders, Reproductive Options
and Church Teaching

A
couple at risk for having a child with a genetic disorder currently has five
reproductive options:

(1)
To use donor sperm or donor ova from a non-carrier together with  artificial insemination or
in vitro fertilization to conceive a child.

(2)To
use in vitro fertilization to produce embryos which will undergo preimplantation
diagnosis  for the genetic disorder,
with only those embryos free of the genetic disorder
being implanted in the womb to try to achieve a pregnancy.

(3)
To conceive naturally but undergo prenatal diagnosis to determine the genetic
status of the fetus, with the intent of aborting a fetus affected by the genetic
disorder

(4)
To take a chance and conceive naturally, with the intent of accepting the child
whatever his/her condition.

(5)
To forgo having their own biological children, and either remain childless or
adopt. 

Within
the Catholic moral tradition the first, second, and third options are excluded.

 Following
the Vatican Instruction on Respect for Human Life in Its Origin and On the Dignity
of Procreation,  the
first option is ruled out by directive no. 40 of the Ethical
and Religious Directives for Catholic Health Care Services: ‘Heterologous
fertilization (that is, any technique used to achieve conception
by the use of gametes coming from at least one donor other than the
spouses) is prohibited because it is contrary to the covenant of marriage, the
unity of the spouses, and the dignity proper to parents
and the child.’ (42).

The
second option involves the use of in vitro fertilization, with ova and sperm
which may come from a married couple, to produce embryos which will undergo
preimplantation diagnosis.  At about
the eight-cell stage of development, one cell is removed from the embryo for
genetic analysis.  If this cell is
genetically healthy, the seven-cell embryo from which it came will be implanted
in a womb in an attempt to achieve a pregnancy; however, if the cell indicates
inheritance of a genetic disease, the embryo from which it came will not be
implanted. (43)   This second
option violates several moral principles.  As
set out in the Vatican Instruction,
the unitive and procreative aspects of the conjugal act should not be separated,
which means that fertilization should not occur as the direct result of a
technical process which substitutes for the marital act. (44)
But in vitro fertilization is just such a technological process.
Further, following the Vatican Instruction,
the Ethical and Religious Directives for Catholic Health Care Services
make explicit that the prohibition  of
in vitro fertilization includes its use by married
couples: ‘Homologous artificial fertilization (that is, any technique used
to achieve conception using the gametes of the two spouses joined in marriage)
is prohibited when it separates procreation from the marital act in its unitive
significance (e.g., any technique used to achieve extra-corporeal
conception).’ (45) In addition, the procedure of preimplantation diagnosis is
unacceptable because it involves the destruction of those embryos with a genetic
disorder which are not chosen for implantation, and this is the equivalent of
abortion. (46)

According
to the Ethical and Religious Directives
for Catholic Health Care Services, ‘Prenatal diagnosis is permitted when
the procedure does not threaten the life or physical integrity of the unborn
child or the mother and does not subject them to disproportionate risks; when
the diagnosis can provide information to guide preventative care for the mother
or pre- or postnatal care for the child; and when the parents, or at least the
mother, give free and informed consent.’ (47) However, ‘Prenatal diagnosis
is not permitted when undertaken with the intention of aborting an unborn child
with a serious defect.’ (48) Thus the third option is not morally permissible,
viz., to use prenatal diagnosis to test the genetic status of the fetus with the
intent of aborting a fetus affected by a genetic disorder.

Official
Church teaching neither excludes nor endorses the fourth option, viz., to take a
chance on conceiving naturally a child who may be affected by a genetic
disorder. This option will be discussed at length in the next section.

The
fifth option concerns a couple forgoing having their own biological children.
Pope Pius XII rejected the view that individuals with undesirable genetic
traits may be forbidden  to marry and
to bear children. (49)  Some might
argue for such a prohibition on grounds of protecting the genetic health of the
human population as a whole:

…modern
science has upset the ecological balance by saving the lives of more and more
defective persons who formerly would have died before they could reproduce.
Thus the load  of defective
genes in the gene pool is increasing, and a much higher level of genetic disease
may soon occur in the population. (50)

Catholic
ethicists Benedict Ashley and Kevin O’Rourke offer the following reply to this
kind of argument:

If only those persons who themselves suffer from a particular genetic
disease are prevented from reproducing, this still does not eliminate
heterozygous carriers who will continue to transmit defects dependent on
recessive genes…  At present,
technology is far from being able to detect all these carriers.
Even if science had this ability, such elimination would extend to many
people.  This would probably also
mean the elimination from the gene pool of many desirable traits because the
same persons carry both good and bad traits, which sometimes are genetically
linked in ways still very obscure.  Thus
programs of negative eugenics based on present knowledge would achieve their
goals only very slowly, over many generations, and might have side effects worse
than the evils they remedy.  Moreover,
as defective genes are eliminated from the gene pool, they are constantly being
replaced by mutations caused by environmental factors. (51)

Hence
Ashley and O’Rourke conclude that ‘such information cannot be used to compel
persons to refrain from reproduction, but it may be supplied to them to enable
them to make responsible personal decisions.’ (52)
The Hasting Center’s Research Group on Ethical, Social and Legal Issues
in Genetic Counseling and Genetic Engineering likewise rejected mandatory
constraints on childbearing: ‘As a general principle, we strongly urge that no
screening program have policies that would in any way impose constraints on
childbearing by individuals of any specific genetic constitution, or would
stimatize couples who, with full knowledge of the genetic risks, still desire
children of their own.’ (53)

While
Pope Pius XII condemned the eugenic sterilization practices which occurred prior
to and during World War II (54) , and condemned practices of forbidding
individuals to marry on account of genetic disorders (55), he also cautioned
that ‘it is certainly right, and in most cases an obligation, to point out to
those who are bearers of extremely undesirable hereditary factors what a burden
they are about to impose on themselves, their mates, and their offspring; a
burden which might become intolerable.’ (56)
In an Allocution to Midwives given on October 29, 1951 Pius XII
explicitly spoke of the permissibility of attempting to forgo the conception of
children for genetic reasons:

Serious reasons, often put forward on medical, eugenic, economic and
social grounds, can exempt from that obligatory service [the duty of providing
for the conservation of the human race] even for a considerable period of time, even
for the entire duration of the marriage.
It follows from this that the use of the infertile periods can be lawful
from the moral point of view  and,
in the circumstances which have been mentioned, it is indeed lawful. [italics
added] (57)

Thus
the fifth option, viz., deciding to forgo having their own biological children
because of a genetic disorder,  may
be a morally legitimate option for a couple with
certain restrictions.

The
first restriction comes from Canon Law governing the validity of marriage.
According to Canon Law, what is required for marriage is an exchange of
the right to children.
Although this requirement is commonly expressed in terms of an intention
to have children, the correct interpretation of Canon Law deals with exchanging
a right rather than with the actual conception of children.
Thus, if a couple mutually agrees
not to exchange that right (i.e., mutally agree to forgo having children), their
marriage is not invalidated, provided that they would accept a child should
conception occur.  The
condition of  ‘mutual agreement’ is critical.
If, in the course of the marriage, one spouse changes his/her mind and
wants children, then the other spouse is not free to exclude that right and
would be obligated to provide for the exercise of that right.
Failing to do this would invalidate the marriage. (58)

The
second restriction concerns methods of birth control.
Even in the case of a genetic disorder, neither sterilization nor
artificial means of contraception is considered morally permissible.
Couples must try to avoid the conception of a child through methods of
natural family planning. (59)

The Morally Legitimate Reproductive
Options: Guidelines for Decisionmaking

In
accord with Church teaching, a couple at risk for having a child with a gentic
disorder has two reproductive options to consider:

‘To take a chance and conceive naturally, with the intent of accepting
the child whatever his/her condition.

‘To forgo having their own biological children, and either remain
childless or adopt.

However,
official Church teaching does not go so
far as to guide the choice between these two options.  Thus guidelines must be taken from the writings of various
theologians and ethicists.

Christians
affirm ‘the fully human dignity of every human person, regardless of
disability or sickness.’ (60)  At
the same time, one finds contemporary Catholic
theologians who urge caution with respect to the option of simply
‘taking a chance’ on conceiving a child.
As ethicists Ashley and O’Rourke comment:

In the past, some would have argued that a person or couple at risk of
begetting a defective child or children, or of transmitting defective genes to
future generations, should fatalistically  marry
and beget children and ‘leave it to God.’
This fatalism, as already pointed out, has not been as damaging to
society as some eugenic enthusiasts have thought….
Nevertheless, Christian teaching does not favor fatalistic attitudes, but
rather advocates parental responsibility. (61)

How
does a couple exercise ‘parental responsibility’ when it comes to genetic
disorders and preconception reproductive decisionmaking?
What factors should they take into account  in deciding if it is morally responsible to ‘take a
chance’ on conceiving a child or if they should try to refrain from having
their own biological children?

Ethicists
have suggested that responsible parenting may involve taking the following
considerations into account:

‘What is the nature and severity of the genetic disorder?  What is the gravity of
impairment it brings?

‘What is the degree of risk of transmitting the genetic disorder?

‘What therapies are available to manage the physical condition of the
child?

‘What resources does the family have available to ameliorate the
condition of the child?

‘What social resources are available to ameliorate the condition of the
child?

‘What will be the impact on already existing children of having another
child affected by the genetic disorder?

‘What will be the impact on the couple themselves and on their marriage
of having a child affected by a genetic disorder?
(62)

Christians
see a child as a gift from God. (63)
Concomitantly, the parental role is one of stewardship
of a precious gift.  Thus a
Christian parent could concur with Sidney Callahan’s contention that ethically
the parental role is one of altruistic commitment to the welfare of the child:

…the
most ethically acceptable parental motivation involves the most conscious
commitment  to giving a unique child
what the child needs for its fulfillment.  People
who want to be parents should want to be parents in order to give, not get.
It is immoral and unethical to knowingly want a child to satisfy needs or
desires which take no account of the child as a human
person with intrinsic rights to dignity and nurturance.  While many have claimed that parental giving, protecting, and
advocacy of one’s children within the family framework produces one of the
greatest of life’s satisfactions and joys, still the ethical essence of the
parental role is altruism and unselfish nurturance of another. (64)

And
Callahan traces out the implications of this view for reproductive
decisionmaking:

Perhaps the most important ethical principle involved in reproductive
risk-taking is to have a concern for the potential third party who may be
involved.  No potential parent or
parents can judge risks simply upon their own ability and willingness to
sacrifice for the consequences.  Will
an innocent third party, i.e.,  one’s
own child, have to bear the burden or suffer from parental risk-taking in
reproduction in a disproportionate way?  (65) 

But
the primary guiding ethical principle of decision-making seems as inevitable as
in considerations of parental motivation, parental control and parental
risk-taking. What will be best from the potential child’s point of view?
Any parents contemplating entry into the basically altruistic role of
parenting can hardly justify putting their own motivations, desires, or even
ideologies ahead of their child’s welfare. (66)

In
sum, in making reproductive decisions a
couple should consider not only their own  desire
to have a child, but the welfare of the child himself or herself.
And considering the welfare of the child means considering the
kind and quality of  life a child
will have if affected by a genetic disorder.
The first five areas of consideration listed above (viz., the severity of
the genetic disorder, the risk of transmission, available therapies, and family
and social resources) are addressed to the welfare of the child and the quality
of his/her life.  In fact,
principles have  been proposed for weighing such factors to come to a
morally sound  reproductive decision:

…a
principle of proportionality should be applied when making decisions concerning
reproduction.  This would mean that
the lower the risk and gravity of impairment to the child  and the more would-be parents, family and the institutional
structures of a society are able and willing to ameliorate the impairment, the
less the likelihood that a child would suffer a serious
deficit and the more ethically justifiable it would be to conceive him or
her.  Should the probability and
gravity of impairment be great, however, and the would-be parents, family, and
social structure unwilling or unable to provide ameliorative measures for the
child with such impairment, the higher the likelihood the child would suffer a
serious deficit and the less ethically justifiable it would be to conceive that
child. (67)

In
order to fully understand such factors, some further explanation is in order.

The Severity of Genetic Disorders and the Degree of
Impairment

Genetic
disorders differ greatly in the impairment they entail.
For example, Lesch-Nyhan syndrome involves severe mental retardation and
self-mutilation (viz., biting fingers, lips, and shoulders) necessitating
restraints on the child. (68)  This
genetic disorder severely compromises the quality of a child’s life.
On the other hand, someone with hemochromatosis can lead an entirely
normal life.  This disease causes
excessive iron deposits in the liver, pancreatic islets, heart, and/or joints,
and can result in liver disease, diabetes mellitus, heart failure, and
arthropathy.  However,
hemochromatosis can be easily treated and effectively controlled by a regimen of
phlebotomies (i.e., periodic removal of a certain amount of blood).
(69)      

A
practical difficulty in assessing the severity of some
genetic disorders is that the severity of the symptoms may vary from
individual to individual.  For
example, the degree of mental retardation involved with Down syndrome can range
from slight to severe. (70) Another example is
neurofibromatosis type 1 (NF1), which causes individuals to develop
tumors on the face and head.  The
severity of this disorder ‘can range from a condition so mild that it may be
undetected to one so severe that it leads to early death.’ (71) The difficulty
posed for preconception reproductive decisionmaking is that one does not know in
advance how severely a child will be affected by the disorder.

In
assessing the quality of life allowed by  genetic
disorders  it should also be kept in
mind that some genetic disorders are late-onset diseases occurring in adulthood.
A ‘predisposition to cancer at fifty tells a parent nothing about the
first fifty years of a would-be child’s life…’. (72) The same point has
been made in the case of Huntington disease:

Arlo Guthrie seems to have taken the optimistic point of view.
His father, Woody Guthrie, died of Huntington disease, which means that
Arlo has a 50 percent risk of developing it himself.
Despite this, Arlo decided to have children, thereby imposing on each
child a 25 percent chance of inheriting the disease.  Of course, if Arlo did not have the disease, as now seems
likely, then his children would not be affected.
But he could not have known this at the time he decided to procreate.
Therefore, he was taking a 50 percent chance that he would be passing on
the Huntington disease to his children.  How
could he justify this risk?  Perhaps  he reasoned as follows: ‘I haven’t had a tragic life.
I’ve had a very good life.  The
goodness of my life will not be destroyed if it turns out that I have
Huntington.  I won’t regret having been born, or resent my parents for
having had me.  So why is it wrong
for me to have kids?  I can give
them a decent chance for a good life–as good a life as I had.’ (73)

Finally,
it should be kept in mind that knowledge of disabilities and impairments
resulting from a genetic disorder will not tell us about abilities a particular child may have — artistic talents, wit, or
intellect. (74)   One example
is Blaine Deatherage-Newsome who has spina bifida but who was also an A student
in high school and a national chess champion. (75) As Adrienne
Asch (an  advocate for the
disabled) has pointed out, ‘Disabled people contribute to society not because
of their impairments…but because in addition to their impairments they have
inherently valuable qualities no different from those of the nondisabled.’
(76) A ‘person’ should not be equated with a ‘disability.’
A person may have a disability, but the disability is not the totality of
the person.\

Risk of Transmitting a Genetic Disorder

The
risk of transmitting a genetic disorder is usually given in probability values,
e.g., 25%, 50%.  Those counseling
couples making reproductive decisions need to recognize that there is a
difference between numerical probability
values and an individual’s perception
of risks.  As Sidney
Callahan observes:

Thus different persons can view an objective probability and a risk to be
taken in very different ways.  A
one-in-a-hundred chance of some future happening may be perceived very
differently by different persons.  It
also may make a difference whether the uncertain future happening is positive or
negative.  Subjective probability and objective probability are almost
always discrepant and differentiated according to individual differences in
personality and attitude.  Attitudes
may also change after experiencing certain events.

The experience of previous outcomes makes a difference in subjective
assessments of probability, but not always in a strictly logical way.
Parents who have experienced some negative outcome with a previous child
may view the probability of a similar event occurring again with quite different
subjective assessments.  Some
parents would become far more conservative in ever taking such a risk again,
while others might be more positive in future risk-taking.
Those who were more positive might be reasoning under the faulty
gambler’s fallacy which hopes each event in an independent series is not
independent, i.e., that after a number of boys in a family one is more likely to
get a girl.  Or those parents who
are more positive in taking a second time risk that would be unacceptable to
others, may have found by their previous experience that the supposedly negative
outcome was not so dreadful after all.  (77)

Various
studies indicate that probability values for the risk of transmitting a genetic
disorder are tempered by such factors as the desire to have children, past
reproductive experiences, and the perceived burden of the disorder. (78)

Means to Ameliorate the Condition of the Child

The
issue here is whether compensatory factors can provide a child with a good
quality of life in spite of his or her genetic condition and accompanying
disabilities.

Therapies
available to manage a genetic disorder can be an important consideration in
reproductive decisionmaking.  For
example, the mental retardation associated with PKU can be avoided by placing
the child on a special diet. (79)  Or
again, it has been speculated that ‘parents who would now forgo another child
in order to avoid having one with cystic fibrosis may, in the future, decide to
go ahead because treatment for cystic fibrosis has improved.’ (80)

In
addition to medical therapies, factors serving to ameliorate the condition of a
child may include adaptive devices, modifications of the environment, and
special education.  One might also
think of family financial resources available to provide for the child and/or
the existence of social assistance programs. Yet ethicist Ronald Green has
pointed out that compensatory factors may go beyond addressing the physical
needs of a child:

Further
complicating things is that the quality of a child’s life is very much a
result of the quality of the parenting it receives.
The burdens of some disorders or some forms of disability are more than
offset by being raised in a loving home.  A
child born with a handicap into a  loving
family has reason to regard itself as lucky when compared with a physically more
normal child whose parents give it less attention or love. (81)

One
instance in which a good quality of life has been achieved in spite of a genetic
disorder is the case of Blaine Deatherage-Newsome, a high school student with
spina bifida  who initiated an
Internet discussion in 1995 on the question, ‘If we had the technology to
eliminate disabilities from the population, would that be good public policy?’
(82)  His own response is as
follows:

I was born with spina bifida and hydrocephalus.
I hear that when parents have a test and find out that their unborn child
has spina bifida, in more than 95 percent of the cases they choose to have an
abortion.  I also went to an exhibit
at the Oregon Museum of Science and Industry several years ago where the exhibit
described a child born with spina bifida and hydrocephalus, and…asked people
to vote on whether the child should live or die.
I voted that the child should live, but when I voted, the child was
losing by quite a few votes.

When these things happen, I get worried.
I wonder if people are saying that they think the world would be a better
place without me.  I wonder if
people just think the lives of people with disabilities are so full of misery
and suffering that they think we would be better off dead.
It’s true that my life has suffering (especially when I’m having one
of my eleven surgeries so far), but most of the time I am very happy and I like
my life very much.  My mom says she
can’t imagine the world without me, and she is convinced that everyone who has
a  chance to know me thinks that the
world is a far better place because I’m in it. (83)

Impact on Already Existing Children and the Couple
Themselves

In
addition to considering the welfare and quality of life of a child who may be
affected by a genetic disorder, a couple may well want to consider the potential impact on already existing children of having another
child in the family who is affected by a genetic disorder. Surely, the parental
commitment to promote the welfare of children applies first and foremost to
already existing children, rather than to merely possible, not-yet-existing
children. (84)  If
having another child whose care, if affected by a genetic disorder, would
prevent or substantially hinder appropriate care for already existing children,
then moral responsibility might dictate that a couple not ‘take a chance’
but forgo having additional biological children.
For example, if a couple already has one child affected by cystic
fibrosis, the demands of his or her care might not be compatible with having
another CF child requiring the same level of specialized care. (85) Or even if
existing children are physically normal, a couple might want to consider whether
the needs of a child affected by a genetic disorder would substantially
compromise what they could provide for already existing children financially, in
terms of time spent with their children, and the like.
But here one must be cautious, and not ignore the comments of parents
having both normal children and a child with disabilities concerning what the
disabled child contributes to the life of the family. (86)

Finally,
a couple may wish to consider the impact on themselves and their marriage of
having a child affected by a genetic disorder.
Do they have the physical and emotional stamina to deal with prolonged
caregiving responsibilities?  How
will time commitments to caregiving for the child affect their personal
relationship with each other?  Can
their marriage survive possibly watching a child suffer and die?

If,
in weighing all of the aformentioned factors, a couple should decide to forgo
having their own biological children, they must still employ only methods of
natural family planning in order for their actions to be in accord with Church
teaching.  While natural family
planning can be highly effective (87), it is still not foolproof, and a couple
must be prepared to accept a child with a genetic
disorder if conceived. Persons counseling such couples may find it
helpful to keep several points in mind.

First,
while genetic disorders will involve suffering, Christians do not see suffering
as something which must be avoided at all costs, but rather, see entering into
it as part and parcel of the Christian life.
This point is made again and again by Ronald Cole-Turner and Brent Waters
in  their book Pastoral Genetics:

We
affirm that our ultimate destiny is for community with God, and that the way to
this destiny is in the company of the crucified healer.  Our faith is not an anesthetic, and the cross is not a
painkiller.  In the community of the
cross, the pain of life and death is all the more vivid, the grief all the
sharper, the uncertainty all the more distressing, for there in the cross we see
what pain does even to God. (88)

Increased
use of prenatal genetic testing seems to fit within a larger popular tendency to
avoid pain at all costs.  We seek
not only pain-free dentistry but a pain-free life.
We do not know  nor do we
want to learn how to make painful experiences part of the narrative of our
lives.  We shrink from those in
pain, fearing that their pain will infect our lives.
Is prenatal genetic testing just another way to shrink from the pain of
others, in this case by preventing them from living with us?  If that is all that prenatal testing is, then it should be
resisted as incompatible with the meaning of Christian life in the community of
the cross.  The goal of the
Christian life is not the avoidance of pain but the faithful following of One
who enters into the pain of those who suffer. (89)

We
affirm that we must be willing to live with pain, to take it into our lives, and
not shrink from those  in pain but
in appropriate ways to make their pain our own in the hope of lifting it from
them.  When we learn the results of
a genetic test that predicts disability or painful disease, our thought will not
be to isolate ourselves from that pain but to enter into it and to respond to it
with compassion rather than fear, and with self-sacrifice rather than
self-protection.  Above all, we
affirm that we must be open to make sense of our lives within the framework of
the definition that God gives, between cross and resurrection, between an
authentic embracing of the brokenness of our circumstances in the present and
the hope of community with God at the end. (90)

Second,
it should be kept in mind that, as explained above, persons with genetic
disorders may also have abilities through which they can make important
contributions to society. 

Third,
persons with disabilities have challenged the nondisabled to reexamine the very
concept of disability, contending that
it is not exclusively a biological problem but has a social component:

 Activists
and scholars of disability have recognized that the nondisabled majority, by
ignorance or design, has created environments, social institutions, and a host
of practices that effectively excluded and segregated disabled people.
They have discerned that obstacles to education, community and political
participation, independent living, employment, and personal relationships
resided not in the incapacities of individuals in wheelchairs to walk stairs,
but in the existence of the stairs that kept them out of schools, public
meetings, apartments, offices, or friends’ homes.  If people with Down syndrome were in residential institutions
and sheltered shops, it was because their segregation resulted from the desires
of educators, employers, and service professionals to keep them segregated, and
not from their  inherent incapacity
to succeed in integrated schools, work, and community homes. (91)

Persons
with disabilities are claiming that a good part of the suffering associated with
disability is the result of ‘discriminatory attitudes, thoughtless behaviors,
ostracization, and lack of accommodation…’. (92) It has been pointed out
that ‘a vast literature of books and articles by parents of disabled children
confirm the view  that
discriminatory attitudes make raising a disabled child much more difficult than
the actual logistics of his or her unique care.’ (93) Thus it is said that it
is society which has malfunctioned ‘because it cannot accommodate the disabled
in its midst.’ (94) It is not the disabled child who should be thought of as a
problem to the world, but rather, the world which should be thought of as a
problem to the child.’ (95) In sum, rather than thinking of how we can avoid
the life of disabled persons, we are urged to think of how expected problems for
them can be reduced or avoided. (96)

Resources

For
a listing of  resources in the
Archdiocese of Dubuque which provide a Catholic moral framework for dealing with
genetic disorders and reproductive decisionmaking, consult the Appendix to this handbook.

 September
1998

1.
Huntington disease is  a
‘neurodegenerative disorder, with adult-onset symptoms of worsening gait,
constant uncontrollable movement, and personality changes.
Death usually comes ten to fifteen years after the initial diagnosis.’
Ricki Lewis, Human Genetics
Concepts and Applications, 2nd ed. (Dubuque, IA: Wm. C. Brown Publishers,
1997), p. 386.

2.
Hemochromatosis is an iron storage disorder resulting in excessive iron
deposition in organs.  It can be
effectively controlled by a regimen of phlebotomies (bloodletting).
Joseph S. Alper, Lisa N. Geller, Carol I . Barash, Paul R. Billings,
Vicki Laden, & Marvin R. Natowicz,
‘Genetic Discrimination and Screening for Hemochromatosis,’ Journal
of Public Health Policy 15/3 (Spring 1994): 345-58 at 346. 

3.
Educator’s Guide to ‘A Question of Genes: Inherited Risks’ (PBS,
September 16, 1997), p. 5;

Stephen
G. Post et al., ‘The Clinical Introduction of Genetic Testing for Alzheimer
Disease,’ Journal of the American
Medical Association 277/10 (March 12, 1997): 832- 36.

4.
An allele (i.e., an alternate form of a gene) may be dominant or recessive.
A dominant allele affects the phenotype (i.e., the expression of a gene
in traits or symptoms) when present in one copy of a gene.
A recessive allele must be present in two copies to be expressed. Lewis, Human Genetics, p. 9.

5.
Eve K. Nichols, Human Gene Therapy
(Cambridge, MA: Harvard University Press, 1988), p. 220.

6.
Lewis, Human Genetics, pp. 140-47.

7.
Gary M. Atkinson & Albert S. Moraczewski, O.P. (eds.), Genetic Counseling, The Church and The Law (St. Louis: Pope John
XXIII Medical-Moral Research and Education Center, 1980),p.9.               

8.
Ibid.; Research Group on Ethical
Issues in Early Human Development and Genetics, Human
Genetics Ethical Issues in Genetic
Testing, Counseling, and Therapy (St. Louis: Catholic Health Association of
the United States, 1990), p. 3.

9.
Atkinson & Moraczewski, Genetic
Counseling, The Church and The Law, p. 9.

10.
Research Group on Ethical Issues in Early Human Development and Genetics, Human
Genetics, p. 3.

11.
Ibid.

12.
Nichols, Human Gene Therapy, p. 231.

13.
Ibid.

14.
Ibid.

15.
Research Group on Ethical Issues in Early Human Development and Genetics, Human
Genetics, p. 3.

16.
Atkinson & Moraczewski, Genetic
Counseling, The Church and The Law, p. 38.

17.
Ibid., p. 42.

18.
Research Group on Ethical Issues in Early Human Development and Genetics, Human
Genetics, p. 4; Nichols, Human Gene
Therapy, p. 235.

19.
Atkinson & Moraczewski, Genetic
Counseling, The Church and The Law, p. 44.

20.
Ibid., p. 8.

21.
Research Group on Ethical Issues in Early Human Development and Genetics, Human
Genetics, p. 4.

22.
Ibid.

23.
Karen Lebacqz (ed.), Genetics, Ethics
& Parenthood (New York: Pilgrim Press, 1983), p. 58.

24.
Atkinson & Moraczewski, Genetic
Counseling, The Church and The Law, p. 31.

25.
Ibid., pp. 32-33; Nichols, Human
Gene Therapy, p. 240.

26.
Nichols, Human Gene Therapy, p. 233.

27.
Ibid., p. 239.

28.
Atkinson & Moraczewski, Genetic
Counseling, The Church and The Law, p. 7.

29.
Ibid., pp. 7-8.

30.
Research Group on Ethical Issues in Early Human Development and Genetics, Human
Genetics, p. 4.

31.
Ibid.

32.
Ibid.

33.
Ibid.

34.
Atkinson & Moraczewski, Genetic
Counseling, The Church and The Law, p. 8.

35.
Research Group on Ethical Issues in Early Human Development and Genetics, Human
Genetics, p. 5; correspondence with Margaret Ann McManus, RSM, genetic
counselor, Mercy Medical Center, Cedar Rapids, IA.

36.
Research Group on Ethical Issues in Early Human Development and Genetics, Human
Genetics, p. 5.

37.
Lewis, Human Genetics, p. 110.

38.
Research Group on Ethical Issues in Early Human Development  and Genetics, Human
Genetics, p. 5.

39.
Atkinson & Moraczewski, Genetic
Counseling, The Church and The Law, p. 8.

40.
Research Group on Ethical Issues in Early Human Development and Genetics, Human
Genetics, p. 5; Atkinson & Moraczewski, Genetic
Counseling, The Church and The Law, p. 8.

41.
Genetic Counseling Valuable Information
for You and Your Family (National Society of Genetic Counselors, 1991); Genetic
Disorders (The American College of Obstetricians and Gynecologists, 1995).

42.
National Conference of Catholic Bishops, Ethical
and Religious Directives for Catholic Health Care Services (November 1994),
no. 40 (Washington, DC: United States Catholic Conference, 1995).

43.
Ricki Lewis, Human Genetics Concepts and
Applications, pp. 374-75.

44.
Congregation for the Doctrine of the Faith, Instruction
on Respect for Human Life in Its Origin and On the Dignity of Procreation II.B.5,
7 (Washington, DC: United States Catholic Conference, 1987).

45.
National Conference of Catholic Bishops, Ethical
and Religious Directives for Catholic Health Care Services, no. 41.

46.
Congregation for the Doctrine of the Faith, Instruction
on Respect for Human Life in Its Origin and On the Dignity of Procreation
I.1, II.B.5.

47.
National Conference of Catholic Bishops, Ethical
and Religious Directives for Catholic Health Care Services, no. 50.

48.
Ibid.

49.
Pius XII, Address to the Participants of the Primum Symposium Geneticae Medicae,
September 8, 1953 in The Pope Speaks The
Teachings of Pope Pius XII (Pantheon, 1957), p. 124.

50.
Benedict Ashley, OP & Kevin O’Rourke, OP, Healthcare
Ethics A Theological Analysis, 3rd ed. (St. Louis: Catholic Health
Association of the United States, 1989), p. 321.

51.
Ibid., p. 322.

52.
Ibid., p. 322.

53.
Research Group on Ethical, Social and Legal Issues in Genetic Counseling and
Genetic Engineering of the Institute of Society, Ethics and the Life Sciences, Ethical
and Social Issues in Screening for Genetic Disease in New
England Journal of Medicine 286/21 (May 25, 1972): 1129-32 at 1130.

54.
Pius XII, Address to the Participants of the Primum Symposium Geneticae Medicae,
September 8, 1953 in The Pope Speaks,
p. 124.

55.
Ibid.

56.
Ibid.

57.
Pius XII, ‘Fundamental Laws Governing Conjugal Relations,’ Allocution to
Midwives, October 29, 1951 in The Monks of Solesmes (ed.), The Human Body Papal Teachings (Boston: Daughers of St. Paul, 1960),
pp. 164-65.

58.
Opinion of Francine Quillin, PBVM, J.C.L., with concurring opinion of Rev.
Joseph L. Hauer, J.C.L., Metropolitan Tribunal, Archdiocese of Dubuque, Iowa,
August 2, 1997. 

59.
National Conference of Catholic Bishops, Ethical
and Religious Directives for Catholic Health Care Services, nos. 52-53.

60.
Ronald Cole-Turner & Brent Waters, Pastoral
Genetics Theology and Care at the Beginning of
Life (Cleveland: Pilgrim Press, 1996), pp. 141-42.

61.
Ashley & O’Rourke, Healthcare Ethics,
p. 325.

62.
See, for example, Bonnie Steinbock & Ron McClamrock, ‘When Is Birth Unfair
to the Child?,’  Hastings Center Report 24/6 (Nov.-Dec. 1994): 15-21 at 21;
Sidney Callahan, ‘An Ethical Analysis of
Responsible Parenthood’ in Alexander M. Capron, Marc Lape, Robert F.
Marray, Jr., Tabitha M. Powledge, Sumner B. Twiss, & Daniel Bergsma (eds.), Genetic
Counseling: Facts, Values, and Norms (New York: Alan R. Liss, 1979), p. 231;
Ashley & O’Rourke, Healthcare Ethics,
p. 326.

63.
See, for example, Congregation for the Doctrine of the Faith, Instruction on Respect for Human Life in Its Origin and On the Dignity
of Procreation II.8.

64.
Callahan, ‘An Ethical Analysis of Responsible Parenthood,’ pp. 223-4.

65.
Ibid., p. 231.

66.
Ibid., p. 236.

67.
Position of Sidney Callahan reported in Cynthia B. Cohen, ‘ ‘Give Me
Children or I shall Die!’  New
Reproductive Technologies and Harm to Children,’ Hastings
Center Report 26/2 (March-April 1996): 19-27 at 25.
The article contains a printing error in that the footnote reference to
the text of Callahan has been omitted from the printed notes.

68.
Lewis, Human Genetics, pp. 21, 116.

69.
Alper et al., ‘Genetic Discrimination and Screening for Hemochromatosis,’ p.
346.

70.
Lewis, Human Genetics, p. 210.

71.
Cole-Turner & Brent Waters, Pastoral
Genetics, p. 24.

72.
Adrienne Asch, ‘Reproductive Technology and Disability’ in Sherrill Cohen
& Nadine Taub (eds.), Reproductive
Laws for the 1990s (Clifton, NJ: Humana Press, 1989), p. 88.

73.Steinbock
&  McClamrock, ‘When Is Birth
Unfair to the Child?,’ p. 20.

74.
Lecture by Adrienne Asch, College Course 25 ‘Ethical, Legal, and Social
Implications of the Human Genome Project,’ Dartmouth College, July 10, 1997.

75.
Lewis, Human Genetics, p. 273.

76.
Asch, ‘Reproductive Technology and Disability,’ p. 75.

77.
Callahan ‘An Ethical Analysis of Responsible Parenthood,’ pp. 230-31.

78.
Petra G. Frets, Hugo J. Duivenvoorden, Frans Verhage, Martinus F.
Niermeijer, Sophie M.M. van de Berge & Hans Galjaard, ‘Factors Influencing
the Reproductive Decision After Genetic Counseling,’ American
Journal of Medical Genetics 35/4 (April 1990): 496-502 at 496, 501; Petra G.
Frets & Martinus F. Niermeijer, ‘Reproductive planning after genetic
counselling: a perspective from the last decade,’ Clinical
Genetics 38/4 (Oct. 1990): 295-306 at 301-2; Evelyn Parsons & Paul
Atkinson, ‘Genetic Risk and Reproduction,’ Sociological
Review 41/4 (Nov. 1993): 679-706 at 687, 693-94, 702, 704.

79.
Lewis, Human Genetics, p. 334.

80.
Dorothy C. Wertz, ‘Society and the Not-So-New Genetics: What Are We Afraid Of?
Some Future  Predictions From a
Social Scientist,’ Journal of
Contemporary Health Law and Policy 13: 299-346.

81.
Ronald M. Green, ‘Parental Autonomy and the Obligation Not to Harm One’s
Child Genetically,’  Journal of Law, Medicine & Ethics 25 (1997): 5-15 at 10.

82.
Lewis, Human Genetics, p. 272.

83.
Lewis, Human Genetics, pp. 272-3.

84.
‘Before becoming a parent there is as yet no dependent child to whom one owes
protection and advocacy.  The
would-be parents’ obligations to themselves, their existing family, to society
at large could be far more compelling than that to a potential child-to-be.
Many, many cases can be imagined in which an individual or couple’s
prior obligations, or the needs of others, would override the individual’s
justifications  for procreating
potential children.’ Callahan, ‘An Ethical Analysis of Responsible
Parenthood,’ p. 235.  Consider
also the following position on merely possible children: ‘Philosophers like
Parfit and Heyd argue that we have moral duties only to identifiable, actual
persons.  There are no moral duties
to persons who are merely possible but who, as a result of our reproductive
decisions, are never conceived.’ Green, ‘Parental Autonomy and the
Obligation Not to Harm One’s Child Genetically,’ p. 7.

85.
See the video Genetic Screening: The
Ultimate Preventive Medicine (KCTS/Seattle, 1980). For example, the father
of a Down syndrome child comments that he wishes every family could have such a
child, at least for a time, because such children are ‘loving’ and evoke in
other people the response of ‘being themselves.’

86.
Ibid.

87.
Ashley & O’Rourke, Healthcare Ethics,
p. 270.

88.
Cole-Turner & Waters, Pastoral
Genetics, p. 142.

89.
 Ibid.,
p. 139.

90.
Ibid, pp. 140-41.

91.
Asch, ‘Reproductive Technology and Disability,’ p. 75.

92.
Marsha Saxton, Commentary on ‘Society’s Diseases,’ Hastings
Center Report 26/3 (May-June 1996): 22.

93.
Ibid.

94.
Abby Lippman, ‘Prenatal Genetic Testing and Screening: Constructing Needs and
Reinforcing Inequities,’ American
Journal of Law and Medicine 27 (1991): 15-50 at 44.

95.
Asch, ‘Reproductive Technology and Disability,’ p. 86.

96.
Ibid, p. 84.  See also Stanley Hauerwas, Suffering
Presence Theological Reflections on Medicine, the Mentally Handicapped, and the
Church (Notre Dame, IN: University of Notre Dame Press, 1986), p. 172.

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