Ethics i n Sc i rnc~ & Mrv/ici,rc, Vol. 2. pp. 13-24. Pergamon Press, 1975. Printed in Great Britain All?-

. AMNIOCENTESIS: A CASE STUDY IN THE MANAGEMENT OF “GENETIC ENGINEERING””

AMITAI ETZIONI?

Abstract-Insight into how American society is dealing wilh recent and potentially far-reaching breakthroughs in genetics and bio-medicine and the personal, social, legal and moral issues they raise, can be gained :hrough studying the fate of one significant new intervention: amniocen- tesis, a test of the amniotic Ruid for the purpose of gaining gcnetic information about the fetus. While the cloning of human beings,”test-tube“ babies, genetic surgcry and many other often debated genetic tools are for the present- still science fiction, amniocentesis is already, being performed increasingly on pregnant women and used in deciding whcther or not the fetus should be aborted.

Amniocentesis is of particular interest because i t can be used both for therapeutic purposes (by detecting and hence leading to abortion of malformed fetuses, foremost those afilicted with Down’s syndrome) and for euphenic purposes, that is the selection of specific biological features .such as the child’s sex (by using amniocentesis in conjunction with selective abortion).

Decision making on the advisability of utilizing amniocentesis and othcr genetic tools pro- ceeds on two interrelated planes, one of medical research and evaluation, and one of normative assessment and policy making.

This article highlights three major issues common to all new medical techniques, in particular to such novel ones, as genetic interventions: (a) Can practicing physicians be relied upon to evaluate the new procedure and determine the nature and extent of its use? (b) I f not they, then who shall conduct the large scale evaluation studies the new interventions may require? And (c) who shall assess the evaluation findings and pass on the nunierous social, moral, and legal issues they raise?

1 N T R O D U C T l O N

Over the past hundred years, science and technology have expanded man’s control over nature. Now a new frontier is being crossed in the area of human heredity. From now on, the genetic inheritance of our descendants, heretofore determined by nature, will be increasingly subject to human choice and responsibility, both as individuals and as community members. Yet the ecology movement, if nothing else, has heightened our awareness of the less than sanguinc consequences of unbridled human intervention. While only a few of us would care to deny and forego the bcnefits science and technology hnvc to ofler, there is increasing recognition of the need for man’s mastery ovcr his tools. Hence the growing intercst in how we manage. Insight into how American society is dealing with new breakthroughs in genetics and bio-medicine and the social, legal and moral issues they raise, can be gained through studying the fate of one significant new intervention: amnio- centesis, a pre-natal test for genetic dcfects.

Amniocentesis, unlike cloning of human beings, iri vitro gestation, genetic surgery and

*I ani indebtcd to Nancy Castleman, Carol Morrow and Pamela Doty for comnients on a previous draft of this papcr. Carol Morrow also served as a research assistant on this paper. I benefitted from the comincnts of Dr. Charles Lowe, M.D., Scientific Director of the Center for Population Research of the National Institute of Child Health and Human Development. This papcr is the product o f a socicty and health prograni conducted under the auspices of the Center for Policy Research.

tAniitai Etzioni’s most recent book is: Generic Fix, New York: Macmillan, 1973. He is professor of sociology a t Columbia University and director of the Center for Policy Research.

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14 AUITAI ETZIONI

many other. hotly debated genetic possibilities is presently available. Thus, this discussion can be anchored in a concrete empirical base. Debates on whether or not we should tolerate the growing of babies in artilicial wombs, advance asexual reproduction. or indeed, genctic engineering in general, often have an unrealistic quality, a futuristic tinge. These techniques are not now available; their specific attributes (safety, effectiveness, costs) are not known; hence, their medical, personal. and social conscquences remain largely matters of con- jecture. Moreover, neithcr the social nor the medical environments into which such innovations will one day be introduced can as yet be more than speculated upon. I n contrast, amniocentesis is now being performed on an increasing number of pregnant women and, on the basis o f the information gained, decisions about whether or not to abort particular fetuses. are presently being made.

Decision-making on the advisability of utilizing this new procedure. for what purposes it might be applied, and who should control it, proceeds on two interrclated planes, one of .medical research and evaluation; and one of normative assessment and policy- making.

1. T H E M E D I C A L P L A N E

The procediire Amniocentesis is currently being used for two widely different purposes, only one of which is related to genetic manipulation. The first, and still by far the more common use, is to gather information about the Rh factor. This has been done in over ten thousand cases during the last weeks of pregnancy.[l] Used in this way, amniocentesis provides information about the fctus' hemoglobin level and, if the fetus is found to be endangered by the mother's antibodies, the physician may induce labor before the full term or prepare a blood trans- fusion for the fetus. (This, of course, is not a genetic intervention; thus, this use of the technique illustrates neither the dangers nor the opportunities, nor any of the other issues raised by genetic engineering.)

The following discussion is therefore limited to the second, more novel but expanding use of amniocentesis, whereby amniotic fluid is extracted early in pregnancy, yielding cells of the unborn fetus which are then examined for genetic attributes. While therapy, or engin- eering, i n the traditional sense of curing the fetus or redesigning its attributes is not possiblc, the birth of a genetically amicted child can be avoidcd through abortion. Pros- pective parents can continue this process of testing and abortion until a fctus free from certain undesired attributes is conceived.

I n this second use of the procedure, between 2 and 50 ml of fluid[2] are withdrawn from the amniotic cavity by means of a syringe, introduced either transvaginally or transabdomi- nally. Usually this is accomplished between the 16th and 20th weeks of pregnancy.[3] Withdrawals of fluid before the twelfth week are considered riskier, as the total amount of amniotic fluid is still small, the amniotic cavity difficult to locate, and the fetus less easy to palpate and manipulate away from the needle. Once removed, liquid and formed elements are separated by means of centrifugation, and then cultured, a procedure which takes at least a week, commonly much longer.[4] The culture is then karyotyped; that is the number, form, and size of the chromosomes of a single cell are compared to a uniform pattern. Occasionally, amniocentesis must be repeated if the fluid withdrawn is inadequate or the culture fails,[5] or the results are equivocal.

The first use of the procedure in order to gain information about the condition of the

Amniocentesis: a casc study in the managcmcnt of “genefic engineering” IS

fetus is credited to Dr. D. A. C. Bcvis,[(l] who initially reportcd his findings i n 1952,[7] whilc Riis and Fuchs arc reported to have pioneered i n using the test to diagnose hcrcditriry diseases i n 1960.[8] I t has beell used in the U.S.A. increasingly over recent years, i n hundreds of cases. I t is still considered quite “experimental,” a long way from established practice.

However. a major systematic evaluation study is now underway at nine medical centers across the nation. The study is being carried out under the auspices of the National Institute of Child Health Developinent, HEW, directed by Dr. Charles Lowe. The evaluation process involves a comparison of 1000aiiiniocentcsis subjects with a matched group of 1000 pregnant women not undergoing the procedure. The infants born to wonieii who were tested are also being checked.

Prior to this, studies of amniocentesis have been based on smaller samples and have been otherwise less comprehensive (e.g., did not test the infants for possible deleterious effects), but the findings nevertheless do provide a good understanding of the issues involved.

The risks .

According to the amnioccntesis studies conducted thus far, the procedure appears to entail a number of risks or complications which vary greatly in the frequency with which they have been observed in seriousness of damage caused, and in how well they are documented.

The most common conlplication appears to be an infection caused by the insertion of the needle.[9]

In 1-2% of the cases, the procedure has been judged responsible for subsequent miscar- riage.[lO] However, as these have often occurred quite a while after the test, and in some cases the fetus seems to have been already dead when the test was performed, it appears reasonable to assume that at least some of these abortions would have taken place in any event.[l I ]

Finally, there remains the possibility that amniocentesis may damage the fetus in more subtle ways; perhaps due to the change in pressure of the amniotic fluid following re- moval of some of it, or because the fetus’ environment is jarred by insertion of the needle. In addition, i t is believed by some that the ultrasound used to locate the placenta, to protect it from the needle, may damage the fetus’ hearing. Thus far there is no hard evidence to substantiate these fears.

Several researchers have summarized the cumulative risk posed by all possibilities of fetal death, spontaneous abortion and vaginal bleeding as an “approximate complicatio~~ risk of 1-2%.”[12]

The validily rate for the tests’ findings is also under scrutiny. In about fen percent of the cases, the culture fails to grow, or other steps go awry and the test must be repeated. But when usable readings are obtained, predictions concerning chromosomal abnormalities (especially those associated with Down’s syndrome or mongolism) have proven very highly reliable.[l3]

2. N O R M A T I V E ASSESSMENT A N D P U B L I C POLICY

The norniatii)e plane With the procedure being medically evaluated, the disposition is to defer passing judgment on its normative value and social use, until such evaluation is completed. However, unlike new drugs, which must be tested and proven safe before doctors are permitted to prescribe

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16 AMITAI ETZIONI

them, amniocentesis-and most other rirctlical procedures like other technological iniiova- tions-arc available and used until and unless i t is prove11 unsound. I n a rccciit survey. conducted by Nancy Castlenian of the Center for Policy Research. 59;;; of 183 i n a national random sample of gynecologists indicated they would reconimcnd it to women who are 40 years or older, because the chances of :in amicted fetus rise sharply w i t h thc mother's age. However, informal checking with doclors suggests that younger womcn can find a doctor who will administer the procedure. Indeed. 4.7 "4 of the physicians Castleman surveyed did state they would recommend it to women of all ages. Thus. even before ihe niajor evaluation study has been completed, in a sense, evcry pregnant woman, her spouse. and her physician, must judge whether or not to use amniocentesis. Moreover. the super-study will not answer the noli-medical questions amniocentesis raises. N o niatter how clear-cut the medical choice niay seem, if a person is to use this device on her body. and if public health authorities will advocate i t , decisions can be made only after a number of issues, in which value judg- ments play a key role, have been clarified,

For heuristic purposes we can think of these issues as arranging themselves conveniently in terms of four concentric circles. Each is concerned with the relati\.e normative "weights" persons attach to different outcomes. The circles are arranged in order from those where. on the face of it, the fetus has been tested and found to be afflicted, to those where it seenis least indicated.

(a) The first circle encompasses those cases where amniocentesis is most clearly indi- cated, whcre there is a high ( I in 4) probability of it being a highly debilitating or life-threatening. untreatsble, genetic ailment; mongolism is the prime example. Should the fetus so amicted be aborted? At stake here is the difficult act of weighing the claims of conflicting values to decide which will take precedence. For those religiously opposed to abortion under any circumstances. who view the fetus as a live being and abortion as tant- amount to killing, the answer may be simple, at least on the ideological level, though less so in practice. For persons so committed, one value outweighs all others. But for those not adamantly opposed to abortion, the question is f a r from simple. First, prospective parents must assess how deeply unsettling they find the severe mental retardation and physical disabilities niongolism entails; how attractive (or unattractivc) they find a child who is highly dependent on them and often quite affable, and their feelings about the medical risks which abortion entails.[l4]

Also, there still remain a great variety of complex feelings about abortion even among those not opposed to it .on religious grounds. These ambivalences are especially likely t o apply i n the case of amniocentesis because the test and hence any subsequent abortion cannot be performed until relatively late i n the pregnancy. As long as the risk for coniplica- tions rises significantly when the test is performed before the 14th umk of pregnancy as currently available data indicates,[l5] and as long as the laboratory culture requires about three weeks (efforts are being made to accelerate the process),[l6] abortion, if indicated. will be of fetuses four to four and a half months old. That is, they will be much more developed and closer to viability than those usually aborted for birth control reasons. Deciding whether or not to abort a fetus so close to viability, yet suffering from a serious genetic amidon , thus necessitates the difficult process of clarifying one's values and dcter- mining the relative saliency of those which are mutually contradictory.

(b) The value balance, all other things being equal, changes with the woman's age, because the risk of carrying a fetus severely afflicted with genetic disease rises with the prospective mother's age. Different studies provide somewhat different ratios, but basically

Aninioccntesis: a caw study i n the rnaiingcmcnt of "gcnctic cnginccring" 17

the curve is :is follows: age 15--19, I i n 2400; 20-29. 1 in 1500-1200; 30--35, I in 400; 35-39, I in 300; 40-44, I in 100; abovc 45. I i n 40.[17] The normative qucstion here is !lot. whether aboriion is acceptable or not. but whether the risks nmnioccntcsis cntails are acceptable. Ohvioirsly. those bccome less acccptable, the lower the probability of lindiilg an afflicted fetus. but how low is low?

The basic qucstion, for those who accept abortion in principlc. is whether or not all pregnant wornen should be adviscd to seek amniocentesis or only those above a ccrlain age'? And if an age cut-off is established, where should i t be-at age 45.40. 35? Some have written on this matter as if it were a question which could be answered with mathem;ilic;il precision on purely medical grounds. Dr. Fuchs. for example, has writtcn, "The risk of abortion due to infection or trauma may be of the order of one to two percent. It is certainly large enough to contraindicate amniocentesis i n cases where the risk of a particular genetic disorder is less than two per cent."[lS] But such a formula does not take into account the highly unequal outcomes involved. One mongoloid does not equal onc miscarriage (plus. say. the one in a thousand danger of puncturing the fetus and the unknown but seemingly very low probability that a genetically normal fetus subjecled to the test may be born uiider-dcvel- oped). How is one to assess how niany times it is worse to have a mongoloid child over a lest-induced miscarriage? (If this question could be answered, the decision might be reduced to a computational matter. For instance, if one considers mongolism to be roughly a hundred times worse than a miscarriage, then assuming a one percent chance of inducing a mis- carriage, amniocentesis should be acceptable to women above 40 but not 35). The question thus remains: for what age group are Ihe test-associated risks, ami?iocentesis entails accep- table? Or how much risk is one to accept to avoid certain diseases for one's future child?

(c) Those who do no! rule out abortion and accept a given dcgree of risk taking. must next weigh how severe an aflirtion justifies abortion and/or t h e risks to the mother and a normal fetus. Besides mongolism. amniocentesis can identify a multitude of other fetal amictions which are genetically based. Some, such as the Klinefclter and Turner syndromes and galactosemia. which involve mental retardation, sexual underdevelopment. or malfunc- tioning of vital organs, are fairly severe; others are much less serious.[l9] For instance, Dr. Albert Dorfman, speaking of a very debilitating disease with limited life expectancy, "Assuming the parents have no moral objections to abortion, quite likely they will prefer to avoid the birth of a child wilh fibrocystic disease if further pregnancies have a chance of producing normal offspring. Bu t , going one step further, what would be a reasonable course of action if we discover a method of prenatal diagnosis for diabetes mellitus? How would a physician feel about providing information that could lead to the abortion of potentially diabetic children ?"

While any qualificd doctor can rank order these diseases in order of medical severity. the decision as to whether any one particular medical difficulty provides justifiablc grounds for abortion and risk-taking is unavoidably normative.

(d) Finally, amniocentesis can be used to detect genetic attributes iciirelntid to health which prospective parents may seek to avoid. Most obvious is the sex of the fetus. Despite the novelty of thc procedure, a case has already been recorded in which amniocentesis was used to detect sex and a girl fetus was aborted simply because the parents wanted a boy.[20] Ninety-six per cent of the 467 genetic counselors recently surveyed on this question by James Sorenson of Princeton, stated they would oppose such use of amniocentesis,[2 I ] though four pcr cent did favour i t . Should such use be forbidden. because i t entiiils taking a health risk for n'on-health purposes? Or would such a policy be unjustly inconsistent,

CShl \'d, 2 No.1 -B

given that socicty allows taking of health risks for non-health purposes as concealing one’s ethnic origin (a ma.ior motivation for plastic surgery of the nose) to hiding scxual experience (restoring the hymen)? And. of course, the recent Supreme Court dccision accords legal lenience to abortion on demand, for whatever reason a pregnant woman may desire it. In this context, can public hcalth authorities limit the use of amniocentesis to health purposes only? And, if so, on what grounds?

Decision-makers

A systematic attempt to deal with the question of who should make all these normative decisions, leads from considerations of the individual, to ever larger social circles, up to the society, as a whole, both as a polity, with institutional mechanisms for decision-making, and as a community which has a set of values and taboos.

(i) The ivonzaii (and her docror)

The most elementary decision point which comes into focus is that of the pregnant woman, who is considering amniocentesis. consulting a physician. On the one side is the authority granted to the doctor by virtue of his specialized knowledge. Traditionally, the assumption has prevailed that the doctors’ professional knowledge of medical matters gives them the right t o render the final decision in matters.[22] This would imply here, such ruling for or against amniocentesis in a given case. However, first the youth rebellion, and more recently, women’s liberation, have focused attention on such sociological facts as the following: (1) most physicians are white males;[23] (2) their own moral values affect their advice to the patients (e.g., a Catholic doctor told a 40 year old woman her head needed examining when she asked for amniocentesis);[24] (3) their behaviour is affected by non-medical motives from profit to a measure of authoritarianisin;[25] and, above all, (4) the decisiofis to abort or not, and to test or not, are only in part based on knowledge of the relevant medical facts. The final judgment is significantly affected by the balancing of values discussed above.

As no one is better able to balance these values than the person who must live with the outcome of the decision, it seems logical that the ultimate judgment has to be made by the pregnant woman, not her physician. (Of course, physicians cannot be expected to pcrform the procedure if it violates their beliefs, but they can be expected to refer their patients to a doctor willing and able to carry out the woman’s decision.)

There is one significant counter-argument: that the patient does not have the intellectual capacity to understand the medical information essential for a rational decision-making. The crucial empirical question is whether this is true of most patients or small minorities. Ccrtainly a sizeable segment, if not all, of the ten per cent or so of the populations said to either be institutionalized or requiring institutionalization in mental hospitals[26] is dis- oriented to the point where they are unable to make decisions which logically flow from their values and the information provided to them. Most other people, though, do seem capable of handling fairly complex information, including multi-dimensional statistical data, as is evidenced in everyday life whenever they compare race horses and baseball teams or purchase autos and lawnmowers.[27]

As far as genetic matters are concerned, a good part of the rather limited data available on the matter suggests that people tend to make fairly sensible decisions. An examination of the data on what people actually do in such circumstances would take us far beyond the

Amnioccnlesis: a ca\c study i n the niaiiagcnicnt of “genctic cnginccring” 19

scopc of this articlc. But bricfly. thc cvidcnce on balancc seeins to indicate that when asked precise technical questions-Iikc gr;idu;ite studcnts 1:iking a writtcn test---many pcoplc fail. For instancc, many cannot dcfinc prolxibilities propcrly or remciiibcr risk ratios. Howcvcr, whcn thcir summnry conclusions and, above al l , their bchaviour is examincd, ii high propor- tion act in a maniicr doctors would judgc to be sound. For instance. whcn the risk of having a genctically affccted child is high, and the deformity cxpccled is scverc, many morc families choose to refrain Trom having childrcn. or use amniocentcsis and follow i t with abortion when indicated, than where risk is low or illness projcctcd is not severe.[28] Moreovcr, of those who acted counter to “sound ” medical judgments, many have neither misunderstood nor were unable to cope with the idormation, but prcfcrrcd to have an amicted child over violating their religious convictions, or taking thc risk of rcniaining childless.[29] While the data on this point is not uniform, and a few studics do suggcst less rational behaviour,[30] the tentative picture 1j.Iiich emcrgcs, on balance, is one of most persons behaving in a basically sensible manner.

Finally, one must take into account that the caprkity for rational decision-making can be developed, Thus, if patients were more often expected to reach thcir own conclusions, if better health education were provided in schools and adult education programs. if people were to discuss these matters more with each othcr (a likely occurrence once more were expected to render such decisions), then one might well expect these capacities to be more developed than in situations where decisions are regularly made for them by specialists.

(ii) Wge atid lrusband

In the case of amniocentesis and abortion, there is not one individual but two who must live with the result of the choice, the pregnant woman and her husband. What should be the husband’s role in the decision-making process?

On the one hand, there is the position that the fetus is biologically part of the woman; hence she is entitled to dispose of it as she desires. Also, it is said, any woman considering amniocentesis or abortion would almost certainly consult her husband if there is a viable marriage. I f relations bctwcen them are strained, however, she should not be prevented from having either amniocentesis or an abortion, lest her husband force her to have a child and perhaps a severely afllicted one, whose day-to-day care may well be left almost entirely to her.

On the other hand, the husband does have various legal duties to the fctus. A child born following a divorce during pregnancy is legally entitled to financial support from its fathcr. Siniilarly, a child born after its father’s death shares in the inherilance of his estate. I t seenis just that such paternal duties should be balanced by some rights. Moreover, the family bond would be strengthcned by viewing the married couple as a decision-making partnership rather than as two fully autonomous beings. The husband’s veto power can be avoided by requiring only that the husband be informed and consulted, not that he consent to the procedure.

(iii) Socieral teucl

The sociological position advanccd thus far has been one whose philosophical underpin- nings are humanistic and libertarian: individuals should be granted the ultimate judgment in decisions governing thcir lives. This individual right. however, must be balanced by the public interest, if only because whenever the aggregalion of free individual decisions causes

a collective negative outcome. individuals or their offspring will suffcr (as for example, when air polluting exhaust from thousands o f private autos poses a pul>lic hc;tltli hazard). And, if iiidividuals fail to perccive this negative aggregate outcome, or refuse lo take it into account, the public’s rcprcscntatives have been cntrustcd by thc citizens-i.c., all the individuals-to act on thcir bch;rlf, to protect everyone’s longer-run interest.

Yet thc most varied kinds of special pleading are often carried on under the aegis of poorly deinonstrated or outright false public necds. Thus. to maintain ;I viable democracy. it would seem essential t o permit the curtailment of individual free choice-especially in the kind of intimate and vital matters exemplified by amnioccntesis-only when thc negative public outconic caused by their unregulated aggregation is both clearly demonstratcd and significant i n magnitude.

There art , in fact, some who hold that amniocentesis should be rejected i n thc name of the public interest. Some argue (ha! amniocentesis will seriously weaken our biological heritage,[3 I] while others charge that it must inevitably lead to some agonizing doubts and arguments over what kind of human is not worth producing.[32] Available evidence causes one to wonder if any of these dangers is either clearly established or sixable enough to limit the use of amniocentesis for therapuetic or even breeding purposes.

The wcakcn-the-race argument is at first glance startling. On the face of i t , reducing genetic illnesses by aborting afflicted fetuses, would seem to “purify” the race rather than sap its strengths. The basis for the theory becomes clearer, however, when we reflect that without any intervention via amniocentesis and abortion, many afllicted children would not reach rcproductive age and hence the defective genes would die with thcni. Furthermore, their parents \tould refrain from attempting to produce normal children for fear of having another amicted one. On the other hand, with amnioccntesis, afflicted children can be replaced, not i n all, but in a significant sub-category of cases, bjf children who will often carry the defective gene in a recessive manner. I t has been argued, then, that the net effect of the intervention can only be to create a population ever more loaded with genetic defects, until we are faced with the “man of tomorrow who must bcgin his day by adjusting his spectacles and his hearing aid, inserting his false teeth, taking an allergyinjection i n one a n n and an insulin injection in the other, and topping off his preparations for life by taking a tranquilizing pill.”[33]

However, careful calculations separately arrived at by several meticulous scholars in the field have shown that even if we assume a very high replacement rate ( i t . , five offspring per average family) and a high 0.1 rate of gene frequency (the rate of affected individuals would be the square of the gene frequency, or in this case, O.Ol) , it would ncvertheless take 13 generations, or at least 390 years, to double the incidence of defective genes. Under less pessimistic assumptions ( i t . , two children per family, and an original rate of amiction of 0.0001) it would take 15,127 gcneralions.[34] Even 13 generations from now, genetic surgery might well bc possible; mcanwhile, all wc need d o is apply the procedure sotilewhat more often in each gcncration. I t seems needlessly cruel t o insist that today’s parents undergo the agony and cost of deformed children t o “protect” future generations from sustaining a small increase in testing.

The second spectre raised by opponents of amniocentesis is limited more spccifically to breeding. I f people were free to use amniocentesis (or other genetic interventions)to choose their children’s biological attributes, which traits would be pronioted? Blonde o r dark features? Mu,sclcs or brains? Might we not be faced with violent controversy? Yet, logically, societal conflict would likely ensue only if the state were to attempt to set goals in this area,

t

t

i

Aniniocentesis: a case study in the nianngcment of "gcnctic cngincering" 21

asdid the Nazi regime. The real issue up for dcbate is not \vhcthcr tllc state should be permit- ted to force persons to breed what i t favors. but the opposilc: should individuals be allowed to breed what fhpj, want. I n this cabe there is no nced for society-wide agreenients as 10 what to breed, hence, there is little dungcr of Soveriimcnt-citizcn or citizen-to-citizen conflict. Each couple can make thcir own choice.

What will be the aggregate efl'ects of such decisions? I n a previous study, 1 measured the scope of sex inibalance that would result if people were to have free choice in choosing the sex of their offspring. I found it to be about scvcn per cent, enough to cause considerable but not alarming societal dislocations.[35] However, there are several valid reasons for assuming that sex choice, if ic iiir~olcvs an~nioce/r/csis, will cause a much smaller imbalance. and hence, little social dislocation. My earlier calculations were based on thc utilization of i t a technique which has little eniotional and economic cost (e.g., a douche).[36] The use of amniocentesis-plus-abortiorl for breeding .purposes, entails sufficient psychological and economic costs, not to mention health risks, to warrant assuming that only those who are

1 i I

strongly committed to having a child of a particular sex would undertake these measures. This factor alone would reduce the likelihood of serious dislocation considerably. More- over, under the impact of women's liberation, the number of persons who prefer boys seems to be declining. The spread of college education also seems to reduce the preference for boys.[37] In short, there is no reason to expect that the resulting dislocations would be serious enough to prohibit the use of the technique for sex choice. The same seems to hold for other purposes, although this cannot be demonstrated here as it would require a nionu- mental volume.

So far, the question of whether or not there is a reason for society to prohibit the use of amniocentesis has been ansFvered in the negative. There remains one important question : is it in the public interest to promote use of the procedure? Requiring amniocentesis by the force of law seems so patently undemocratic i t need not even to be discussed. But perhaps public health authorities might advertise and advocate it via public education channels ?

Unless future studies show that the procedure entails significantly higher risks than those thus far established, the answer seems to favor promotion of amniocentesis for therapeutic purposes-at least of the severely afflicted fetus. Children who are severely mentally retarded or irremediably and severely ill physically not only suffer greatly and present personal agonies for most of their parents; they are a major public charge. Many parents dump these children in public institutions and d o not even visit them. Certainly we should not force mothers to submit to aninicoentesis or abort malformed fetuses; but it seems senseless t o speak of natural or moral rights in the case of parents who are now unaware of any choice but that of giving birth to these children and then making them wards of the state. At the very least, prospective parents should be made aware of the alfernate ways we could rechannel these economic resources, if they were to take advantage of amniocentesis and give birth only to children who have none of the untreatable genetic malformations which the test is capable of detecting.

While a strong case can be made in favor of promoting amniocentesis for therapeutic goals, little societal good would seem to result from promoting it for breeding purposes, as a matter of public policy (as distinct from individual desires). Not only are we far from agreeing on what attributes we might want to breed, but the results of most such intcrven- tions, while considerable for the individual, are likely to have, under practically all possible conditions, little aggregarc effect. [38] (One possible exception would be the selective abortion

AhllTAI ETZlONl 22

of those with the XYY chromosome profile. I f additional data wcre to show a closer link between this chromosomal pattern, which characterizcs one out of 1000 male births, [39] and seems to give thein a predisposition toward criminal insanity.[40] i t might be in the public interest to encourage detection and abortion of XY Y fetuses).

Since the need to either require or prohibit amniocentesis (or other genetic intervcntions) has not been demonstrated, there is no reason for govenment regulation of its use. There are, however, three quitc different roles the public authorities could usefully fulfill.

First, the government should continue its support of the super-study evaluating amnio- centesis, and extend the scope of the study to cover those empirical questions so far not includcd.

Second, there is a need for dissemination of information both within the medical community and amongst the public-at-large. Practicing doctors cannot be relied upon to update themselves, but there are many- ways in which doctors’ inforniational requirements can be serviced. These have been explored often, hence they need not concern us here in great detail. Suffice it to say that one of the best ways to secure the doctors’ interest in updating themselves, and to guard again3 their not doing so, is to inform the public directly. The Food and Drug Administration set the wrong precedent when it decided not to provide women with the full detailed information about the dangers of birth control pills, but instead gave it to doctors-to give to women.[41] Most seem not to pass it on.(42] In this case, there is special reason to go directly to the public with information about amniocentesis, its risks and opportunities, precisely because, as the above mentioned survey shows, many doctors either will not counsel it or provide it only if the pregnant woman specifically requests the test.

Finally, as values and taboos heretofore latently held are brought into consciousness and examined, there is a need for institutionalized opportunities for reviewing the ethical and legal issues involved-both to clarify alternatives and to focus public debate. The nation requires “occasjons” i n which not just specialists but also humanists, theologians, and public representatives meet regularly to review the kind of questions posed by amniocentesis and other genetic interventions yet to come. For examplc, when shall we say life begins? Should a doctor be required to consult the husband before performing amniocentesis or abortion? Should amniocentesis be “allowed” for breeding purposes? And so on. A Con- gressional Commission to explore these issues has been proposed by Senator Walter Mondalc.[43] It would include 15 representatives of medicine, social science, theology, and other disciplines, who would study and focus attention on the ethical and social questions raised by new genetic and biological techniques. And local review boards could supplement it. The Coinmission might well provide a national forum and focus for such discussions. Along similar lines, an international body, linked to WHO and UNESCO, has also been suggested. [44]

The Commission’s conclusions could lead legislatures to adopt new laws or repeal existing ones (for example, several of the required programs of genetic screening might well be made voluntary). The Commission might also suggest specific educational campaigns promoting amniocentesis to the public health service or refer women to doctors who do; call for studies on variables relevant to amniocentesis but thus far neglected (such as the effects of anxiety on prospective mothers); and, above all, focus public attention and debate on these matters. The issues raised by amniocentesis are not less important than any of the other matters of significance to society at large-from highway safety to pollution control-which lay claim to public attention and civic action.

23 Amniocentesis: a case study in the nianaycnicnt of "genetic cngiriccring"

R E F E R E N C E S

I . Hcnry L. Nadlcr and Albert R. Gerbic, " Role of Aninioccntesis in the Intrauterine Detection ofGenetic Disordcrs," N o r Eng. J . 1ZItd. 282, 506, 1970.

2. Henry L. NadIcr anid Alhcrt Gerhic, "Pi-ebent Status of Amniocentesis i n Intrauterine Diagnosis of Genetic IMects;' Ohsrrr. R G~.nrcol . 38. 791, 1971.

3. Dr. Virginia Apgar rcfcrs tn tezts conductcd as early as the 12th week of prcgnancy. Virginia A p p r , Is MJ- BdJa All Right? Ncw York. Tridcnt Press, 1973. p. 171. For othcr discussions ofoptimnl time to perform the opcratinn, sce Theodore Friedmann, *' Prenatal Diagnosis of Gcncric Discasc," ScicnI. Am. 225, 5, 197 1 ; Mark I--rankel, Genc,/ic Tcclrnology: Promises and Problcrns (\Vashington, D.C. : George Washington University, 1971), pp. 5-6.

4 . Maidinan indicates that ten days to three weeks is required for ccll cultivation fnr purposes ofcylogenctk analysis, though threc 10 six weeks are required to obtain enough cells for certain biochemical studies. Jack Maidman," Antenatal Diagnosis," in 0hsfc.f. Gynccol. Ann. 1, New York, Appleton-Century-Crofts, 1971. Ralph Wynn, ed., p. 72. Sce too discussion i n Confcrorcc on tlrc Liyiol, Social and Biological Significance of Prenatal Gcnefic Dingnosis of the Coioiril for Biology in Ifrunan Ajhirs of rhc Salk lnsrirrire, New York, New York, June 6-7, 1970, pp. 16-17. (We will refer From here on to thc Corrfcrcnce.)

5 . See for example, Atihrey blilunsky, Leonard Atkins and John Littlefield, Aninioccntesis for Prenatal Genetic Studies, Obster. & Gyrtrcol. 40. 105. See too, H. Nadler and A. Cerbie, "Present Status of Amnioccntesis in Intrauterine Dingnosis of Genetic Defects," pp. 791-794.

6. Fritz Fuchs, Amniocentesis: Techniques and Complicationc, in Maureen Harris ed.. Early Diagnosis of Hurnam Genetic Dcfcrrs, Fogarty International Center Proceedings No. 6 (DHEW Publication no. (NlH) 72-25), p. 1 I .

7. Bevis, D. C. A. The Lancer 1 p. 395, (1952). 8. Povl Riis and Fritz Fuchs, Antenatal Detcrinination of Foetal Sex in Prevention of Hereditary Discascs,

9. Fuchs, Aniniocentesis: Techniqires and Coniplirarions, p. 14. T/ie Laricer 180-1 8 I , 1960.

10. Aubrey Milunsky, The Prctutal Diagrzosiso/Herrditar). Disordcrs, Charles C. Thomas, Springfield, 1973,

1 1 . For example, see Albert Gerbie and Henry C . Nadler, Present Status of Amniocentesis in Intrauterine Diagnosis of Genetic Defects, Ohsrer. G)*nerol. 38, 794, 1971. Aubrey hlilunsky, Leonard Atkins, and John W. Littlefield, Amniocentesis for Prenatal Genetic Studicz, Obsfer. Gynecol. 40, 106, 1972.

p. 7.

12. Milunsky, The Prenaral Diagnosis of Hercdifnry Disorders. p. 7. 13. Nadler and Gerbie, Present Status of Aniniocenwh in Intrauterine Diagnosis of Genetic Defects,

14. See for example, Milunsky, The Preriaral Diagnosis of Hereditary Disorders, pp. 153-154. 15. Fritz Fuchs, A/n/riocerrtesis: Techiqlres and Conlplicafions, p. 12. 16. See for example, Henry Nadlcr, Risks on Amniocentesis, in Early Diagnosis of Hrman Genetic Defccrs,

17. Sarah Bundey, "Mongolism, the Most Common Autosomal Abnormality," Mod. Med. 41, 18 (1973)

18. Fuchs, Anotiocenrcsis: Tcchniqiics and Coniplirafions, p. 19. Albert Dorfman, Genetics Now: Its significance for the Practicing Physician, Prisrii p. 21 (August 1973). 20. Morton Stenchever, "An Abuse of Prenatal Diagnosis," J . Am. Ned . Ass. 221, 408, 1972. 21. Privatc Communication. 22. Sir Harold Hiinsworth, former Secretary of the Medical Research Council, London, asserts, "The

ultimate responsibility is on the physician to decide what information to give to the patient," Sir Harold Hiinsworth "Discussions," Erliical Issucs in Ifumoir Genetics, p. 277. Seaman, Frce andfrmaic, p. I61 ; Ellen Frankfort, Vaginal Polifics, New York: Quadrangle, 1972.

pp. 791-793.

p. 136.

p. 32G.

'

23. Barbara Seaman, Free and Fcmule, New York: Coward, McCann R: Geoghcgan, 1972, p. 139. 24. John 1-letcher, Moral Problenls in Gcnetic Counseling, Pasroral Psycliol. p. 82, 1972. 25. For a discussion of the extent to which doctors are authoritarian, see Barbara Scaninn. Free andFeimolr

New York, Coward, McCann and Geoghcgan Inc, 1972. pp. 140-147; "Women, Medicine and Capita- lism,'' Our Bodics, Urtr SeIces (Boston Women's Health Course Collective. 1971). pp. 134-136; On a mother reporting that "the neurosurgeon made the decisions" that her newborn dcfnrmed child would be operated on, see Luree Miller, Letter to the Editor, Cotiumwfnry (October 1972), p. 28.

26. John Clausen. "Mental Disorders," in Robert K. Mcrton and Robert Nisbct (eds,). Confemporary SociuII'roblems 3rd. ed., New York: Harcourt Brace Jovanovich, 1971, p. 36.

27. This point was made by Samuel Lubell. 28. Ibid. See too, Claire 0. Lconard, Gary A, Chase and Barton Childs, Genetic Counseling: A Consumers'

29. See for example, F. C. Fraser, Genetic Counseling and thc Physician, Curt. Med. Ass. J . 99, 9, 1968. View, New Eng. J . Mcd. 28RI p. 435, 1972.

24 AMITAI ETZIONI

30. Thus, Y. E. Hsia reports that i n his study at Yale only 25yi of thosc in a high risk group were deterred from planning further children. 1’. E. Hsia, “Choosing My Childrcn’s Genes.” paper prcscntcd at thc American Association for the Advancement of Science Annual Mceting, Washington, D.C., December 29, 1972.

31. Friedmann, Prcnatal Diagnosis, pp. 38-39. See also Etzioni, Genetic Fix, Chapter 3, “Are We Debasing Our Genes?”

32. See for example, Gerald Leach, The Biorra/s, Baltimore, Maryland, Penguin Books, 1972. 33. Bentlcy Glass, “Human IHeredity and Ethical I’roblenis,” Perspc f . Bioi. Med. 15, 237-253, 1972. 34. Arthur G. Steinberg, The Gcnetic Pool. Its Evolution and Signiticance--’Desirable’ and ‘Undcsirable’

Genetic Traits, paper presented at Rrcerrt Progrcss in Biology and Mediriite-Its Social a i d Ethical Implications. Reported in Etzioni, Genetic Fix Chapter 3, “Are We Debasing Our Geiies?”

35. Etzioni, “Sex Control, Scicnce and Society,” p. 1109. 36. Ibid. 37. C.- F. Westoff. “The Social-Psychological Structure of Fertility,” in In/ema/iona/ Popularion Council

38. For more detailed discussion, sce Etzioni, Generic Fix. 39. MeBridge, ‘‘Prenatal Diagnosis: Problems ad Outlooks,” p. 135. 40. See Kenneth Burke, “The ‘XYY Syndrome’: Genetics, Behaviour and the Law,” DenrwLawJ. 46, 1969

261-284. Ernest B. Hook, “ Behavioral Implications of tlie Human XYY Genotype,” Science, 179 1973. 41. Seaman, Free arid Female, pp. 229-23 I ; Charles F. Westoff and Leslie Aldrich Westoff, From NOH’ to

Zero, Boston, Little & Brown, pp. 96-100. 42. Seaman, Frec anti Fentalc, p. 232. 43. Senator Walter Mondale and other senators introduced to the 92nd Congress a bill to set up a “National

Advisory Commission on Hcalth, Science and Society.” The bill was unanimously approved by the Senate though not by the House, and has been re-introduced in the 93rd Congress as S.J. Resolution 71.

(International Union for Scientific Study of Population, Vienna, 1959).

44. For more on this, see Etzioni, Genetic Fix.

,