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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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