amniocentesis: a case study in the management of “genetic ...

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Ethics
i n
Sci r nc~
&
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
t o 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 NTRODUCTl ON
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 t o
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 of 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 at Columbia University and director of the Center for Policy Research.
13
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
i n
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
of
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.
THE
MEDI CAL PLANE
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
i n
over ten thousand cases
during the
last
weeks of pregnancy.[l] Used
i n
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 t o 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 t o
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
i n
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 t o 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,
it
is believed by some that the ultrasound used
to
locate the placenta, t o protect
it from the needle, may damage the fetus’ hearing. Thus far there is no hard evidence t o
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.
NORMATI VE
ASSESSMENT AND
PUBLI C
POLICY
The
norniatii)e
plane
With the procedure being medically evaluated, the disposition is t o 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 t o prescribe
1
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
wi 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
t hey
would recommend
it
t o 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.
No
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
i n
order from those where.
on the face of it, the fetus has been tested and found
to
be afflicted, t o 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 t o decide which
will
take precedence.
For
those religiously opposed t o
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 ar
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 ami don, 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
i n
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 he
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.
But,
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 t o 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 t o deal with the question of who should make all these normative
decisions, leads from considerations of the individual, to ever larger social circles, up t o
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 t o 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 t o
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 t o 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 t o
a
doctor willing and able t o 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 t o
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 t o 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
i n
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 i n 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
t han
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 t o the
procedure.
(iii)
Socieral
teucl
The sociological position advanccd t hus 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
of
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
i n
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 t o 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 t o “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 t o 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
i n
a significant sub-category
of
cases, bjf children who will often
carry the defective gene
i n
a recessive manner.
I t
has been argued, then, that the net effect
of the intervention can only be t o 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 ann
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 do 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 or 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 t o 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 t o 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 t o 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 t o 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
i n
the negative. There remains one important question
:
is it
i n
the public interest
t o
promote use
of
the procedure? Requiring amniocentesis by
the force
of
l aw 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 t o 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
i n
public institutions and do 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 t o 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.
If
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 t o 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
t o 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 t o
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 t o 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 t o pollution control-which lay claim
to
public attention and civic action.
23
Amniocentesis: a case study in the nianaycnicnt of "genetic cngiriccring"
REF ERENCES
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
Appr,
Is
MJ-
BdJa
All
Ri ght?
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,” Perspcf.
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 ai 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.
,