Behold how brightly breaks the morning!
     Though bleak our lot, our hearts are warm.
          James Kenney (1780-1849): Behold how brightly breaks.

This year, several genetic defects in DNA have been discovered which are
thought to be involved with the appearance of Alzheimer's, Parkinson's and
also dystonia. With the advent of mass DNA testing, will we be accepting
"the mark of the Beast", upon ourselves as well as our offspring. Who will
have access to this information? What will be the penalties for its misuse?

The following paper, while dated, still defines the terms of the ethics
debate, whose outcome is still in doubt. Any future legislations should
safeguard the recipients of DNA testing.


If Gene Therapy Is the Cure, What Is the
Disease?

by Arthur L. Caplan

     (A version of this paper appears in "If Gene Therapy
      is the Cure, What is the Disease?" G. Annas and S.
      Elias, eds., Gene Mapping, Oxford University Press,
      1992, pp. 128-141.)

     I.   Can Philosophical Analysis Really Help?
    II.   What Is Disease?
   III.   Non-normativism vs. normativism: finding a middle
          ground.
    IV.   XYY, Oculocutaneous Albinism and deafness and being
          short: Are These Diseases?
     V.   Implications of Defining Disease for the Study of the
          Human Genome.
    VI.   Please Leave Us Alone, We Promise to Be Good!
   VII.   Should Germline Interventions Be Forgone?



I. Can Philosophical Analysis Really Help?

It may strain credulity to believe that the analysis of concepts
such as 'health', 'disease' or 'normality' can shed any light on
the ethical and policy issues associated with the vast amounts of
new knowledge being generated by the human genome project and
related inquries in biomedicine However, credulity must be strained.

The focus of attention qua philosophy tends to be on who owns the
genome or whether an insurance company can boot you off the rolls
if you are at risk of succombing to a costly disease.But this is
not really where the ethical and philosophical action is with
respect to the ongoing revolution in genetics.

Politics, economics, psychology, social work, education and
philosophy all presuppose certainfacts about human nature. In one
sense the old nature/nurture battle is written on every page of
the classic texts of Western thought. But the genome project,
the attempt to map and sequence, to crack the code of our
heredity, promises to make nature/nurture an issue in a way that
we have rarely seen in the history of science. Conceptual
evolution on a par with Darwin, Freud, Copernicus worldviews
changing our understanding of who we are and what makes us
tick--or sick.

The understanding that our society or others have of the
concepts of health, disease and normality will play a key role
in shaping the application of emerging knowledge about human
genetics. If this is so, why is it so difficult to direct
the attention of those interested in the ethical, legal and
social consequences of new knowledge created by the human
genome project toward the analysis of these concepts?

One reason is that many of those who deliver health care are
not beset by doubts or ambiguities about the aims, goals,
definitions or purposes of their activities. Most people who
seek health care do so because they believe that something is
wrong with them. The aim of the doctor or nurse is clear--fix
the problem by correcting anomalies, reversing pathological
processes or, if cure is not possible, providing some means
of accommodation and palliation. In most interactions between
health care provider and patient both parties reach agreement
that something is wrong and on what the goal of consequent
medical intervention should be.

Even when the goal of medical intervention is the subject
of disagreement between provider and patient, for example in
making decisions about undertaking continued resuscitation
efforts or kidney dialysis for imminently dying terminally
ill patients, or, the prolonged, intense utilization of
life-sustaining treatments for extremely elderly patients who
have been in permanent comas for many, many years, health care
providers patients, families or guardians are almost always able to
reach an agreement about what should be done (Miles, 1991).

Unless financing is an obstacle it is almost always the case
that when patients want treatment that has some chance of being
effective doctors will agree to provide it. In American medicine,
respecting autonomy is the core principle used to settle disputes
about the ultimate goals that ought guide the provision of care.
In situations where doubt as to the goal of care exists adherence
to the principle of autonomy requires clinicians to defer to the
wishes and preferences of those receiving care or their surrogates
even when patient choice results in forgoing likely benefits
(Childress, 1982; Engelhardt, 1986 ). The rule, 'yield in the
face of autonomy', minimizes the need to carefully examine more
general questions about the aims and goals of health care.
(But, see Pellegrino and Thomasma, 1988; Faber-Langendoen,
1991, Miles, 1991).

Still another reason for the relative absence of discussions
of the definition of health and disease is that when there is
a lack of consensus about the appropriate classification of
particular traits, states or behaviors as constituting
instances of either disease or health the disagreements
sometimes become so heated that there is little incentive to
join what may appear to more closely resemble a fray rather
than a discussion. There is still disagreement about the scope
or application of the concepts of health, disease or normality
to gambling, sexual promiscuity, pre-menstrual syndrome,
hyperactivity or homosexuality). The battles over the
classification of these behaviors and traits have been heated
and fierce (Caplan and Engelhardt, 1981; Bayer, 1981; Engelhardt
and Caplan, 1987). Uncertainty about whether or not to attempt to
treat short stature in children, low blood sugar and hypertension
have also produced heated controversies as to their disease or
health classification and, consequently, the appropriateness or
inappropriateness of therapeutic intervention. Controversy about
the scope and domain of the concepts of health and disease
sometimes is so divisive that it may seem prudent to some to
simply avoid asking questions about the the application of concepts
such as health and disease to new knowledge in the area of human
heredity.

There is another reason why the implications of new knowledge in
genetics for understanding health, disease and normality are not
always center-stage. Those who are actually engaged in
mapping and sequencing the human genome, or the genomes of other
organisms, often do not have any particular practical goal or
application motivating their work. Despite all the hand-wringing
which has accompanied the evolution of the genome project, and the
promises of therapeutic benefits that it will produce, many of
those involved are simply interested in understanding the
composition of the genome, its infrastructure or anatomy (see
Lander, this volume). Basic researchers have fewer reasons than
clinical researchers to struggle to clarify the conceptual
foundations of health, disease and normalcy and they will, of
necessity, control the direction of the human genome project for
many years to come.

Not only do basic researchers have less reason to explore the
conceptual foundations of health and disease, in the case of the
genome project they have a positive disincentive to participate or
encourage such an inquiry. If uncertainty about what to do with
new knowledge in the realm of genetics is a cause for concern in
some quarters, then those who want to proceed quickly with
mapping the genome might find it prudent to simply deny that any
application of new knowledge in genetics is imminent (see Lander,
this volume; testimony MN House of Representatives on genetic
testing, 1991) or to promise to forebear from any controversial
applications of this knowledge.

Promising to try and avoid doing anything that will grossly
offend societal mores is the simplest strategy if one's aim is
not applying new knowledge but merely to be allowed to proceed to
acquire it. Some involved in the genome project have tried to
defuse worries about the thorny issues of what constitutes health,
what are the boundaries of normality and what justifies referring
to a particular genetic state as a disease by self-imposed
restrictions upon the application of new knowledge concerning the
genome. The clearest example of this prophylactic strategy is the
promise that germline gene therapy will not be done (Walters, 1986;
Anderson, 1989; Hall, 1990). The messy problem of how to fit new
knowledge about heredity into existing categories of disease,
normality and health can, perhaps, be forestalled by arguing that
the sole therapeutic goal of the human genome project is somatic
genetic therapy for obvious, clearcut instances of human
disease (Anderson, 1989; Elias and Annas, this volume).

II. What Is Disease?

An especially interesting and important place to start an
examination of how new knowledge of the human genome will
influence how we ought understand the goals of health care is by
asking what is it today that doctors, nurses, psychologists,
physical therapists and the myriad other professionals who work
in health care are supposed to do? The most obvious and
commonsensical answer is that they are to combat disease. While
there are many other goals that might and have been added, ranging
from screening for eligibility for government benefits to
certifying persons as fit to play sports or serve in the military,
the fight against disease occupies center-stage in what people
expect health care providers to do. So if it is possible to become
clearer about what disease is then it may be possible to have a
better understanding of the boundaries of what is and is not licit
with respect to the application of new knowledge arising from the
human genome project.

There are two major points of contention evident in the literature
which discusses the meaning of the concept of disease (Caplan and
Engelhardt, 1981; Caplan, 1989). One major source of disagreement
concerns the role played by the determination of normality in the
identification of disease. The other concerns the role played by
values in the definition of disease.

Many physicians and nurses equate difference with disease or, at
least with a reason for suspicion that disease may exist. To put
the point another way, abnormality is often viewed with suspicion
either because it is seen as disease or, because it is seen as
symptomatic of an underlying state of disease. As E. A. Murphy
cogently observed in his book, THE LOGIC OF MEDICINE;

     "...the clinician has tended to regard the disease as that
     state in which the limits of the normal have been
     transgressed." (Murphy, 1975, p. 122).

For example, many physicians and public health experts believe
that blood pressure readings which vary from what is considered
typical or normal for specific age groups within the population
are, in themselves, indicative of disease. For American physicians
variations skewed toward high numbers are disturbing. For German
physicians both high and low numbers are equally likely to be
diagnosed as disease and, therefore, as sufficient to merit
medical intervention. Similarly, variations, even of a modest
sort, with respect to height, weight, attention-span, sperm
production or blood cholesterol levels may trigger disease labels
and consequent efforts at therapy.

Critics of what can be called the 'disease as abnormality'
approach point out that there is nothing inherent about difference
that makes a particular biological, chemical or mental state a
disease. Moreover, since variation is an omnipresent feature of
human beings, it is especially odd to argue that extremes of
variation are somehow indicative of disease. If there is nothing
at all unnatural about variation, then abnormality cannot in
itself be equated with disease. Indeed, critics of the
view that equates difference with disease note that this equation
has throughout the history of medicine led to the classification
of differences with respect to race, gender and ethnicity as
diseases which in turn has been the basis for unfair and even
harmful interventions against persons suffering from nothing more
than a darker skin color or the presence of ovaries (Gamble, 1991).

Those who are skeptical of the equation of disease with
abnormality make two points worth pondering in the context of
new knowledge about human heredity. Simply labelling abnormality or
difference as disease is, of necessity, to impose a value
judgment on a physical or mental state that does not wear its
disease-status on its sleeve. Second, abnormality is not in itself
bad. Afterall, those who are unusually smart, strong, fast, or
prolific are not classified as diseased. If abnormality is to be
equated with disease then at a minimum it must be abnormality that
is associated with something that is disvalued and, further, there
must be some connection between the difference or abnormality and
the dysfunction that is disvalued (Clouser, Culver and Gert,
1981).

These criticisms of the equation of abnormality and disease raise
another major point of contention in defining the concepts of health
and disease --whether or not it is possible to do so without
reference to values. For if values must be used to decide whether or
not a particular abnormality or difference is indicative of disease
then many worry that the entire process of defining health and
disease must be subjective and especially vulnerable to political
or social influences (Caplan, 1989). If disease refers to abnormal
states, either mental or physical, that are disvalued then the
appearance of values seems to some to make the prospects grim for
objectivity or consensus about what states are or are not healthy or
diseased. Subjectivity and a lack of consensus could bode especially
ill for the uses to which new knowledge of human heredity might be
put since applications might be controlled by the powerful or the
economically privileged to advance their own values.

Some believe that values need not be invoked in defining health or
disease. Those who espouse non-normativism, the view that the
definition of disease need not involve any invocation of values
(Boorse, 1975, 1976, 1987; Kendell, 1975; King, 1984; Scadding,
1967) usually invoke some notion of natural function or design to
ground the definition of disease.

Non-normativists doubt that values must enter into the assessments
of organ function and behavior. For example, if a cardiologist says
that the function of the heart is to pump blood or a renal
physiologist claims that the function of the kidney is to cleanse
the blood of impurities, it is not because they hold certain values
about hearts or kidneys. Rather, based upon both functional
and evolutionary analysis it is possible to arrive at an
understanding of what it is that the organs are supposed to do. By
removing both kidneys or seeing what happens if the heart is damaged
it is possible to ascertain the functions of these organs.
Therefore, non-normativists argue, it is possible to utilize
concepts such as cardiac or renal disease without invoking any
sort of value judgments as to whether or not it is good that hearts
beat or commendable that kidneys filter the blood.

Normativists argue that the concept of disease is inherently and
inextricably value-laden. They believe that functional analysis by
itself cannot reveal whether or not a particular state of the body
or mind is indicative of disease (Clouser, Culver and Gert, 1981;
Engelhardt, 1986; Fabrega, 1972; Goosens, 1980; Margolis, 1976;
Pellegrino and Thomasma, 1988; Reznek, 1987; Sedgwick, 1973).

For example, the fact that someone is nearsighted or farsighted
may or may not be indicative of disease or disability. It depends
whether one is going to spend one's day in the library, in the
operating room or hunting on the savannah.

Even the failure of a major organ may not be an obvious instance
of a disease if other options exist for performing the same function.
The fact that a kidney can no longer cleanse the blood of
impurities may or may not be indicative of disease depending upon
such value-laden judgments as whether its owner wants it to do so.
Artificial kidneys can supplant the function of natural ones so
there is nothing inherent about the desirability of having a natural
kidney cleanse the blood. It is possible that some people might prefer
to have their blood cleansed by a machine (maybe a more
efficient and safe futuristic one then is now currently available)
to having their own kidneys do the job. Consequently, normativists
say, the view that a kidney incapable of cleansing the blood of
impurities is diseased is as much a claim about values and options
as it is about renal physiology.

Normativists almost always subscribe to the view that assessments
of health and disease are value-laden and that as a result they are
inherently subjective not objective (Fabrega, 1972; Sedgwick, 1973;
Engelhardt, 1986). However, the link between the presence of values
and the threat of subjectivity is open to question. The presence of
values may make the definition of disease or health suspect in terms
of its objectivity. But the existence of values in the assessment
of health and disease does not mean that it is impossible to reach
consensus about the definition of disease in spite of the fact that
values play a role in the definition (Clouser, Culver and Gert,
1981; Flew, 1983; Caplan, 1989; Reznek, 1987).

III. Non-normativism vs. normativism: finding a middle ground.

Equating normality with health and abnormality with disease as ways
of defining these key concepts seems open to devastating conceptual
and empirical problems. The view that what is different is, in and
of itself, disease simply does not square with ordinary experience.
Many differences are viewed as desirable or beneficial. Difference
may be a cause for inquiry into whether or not a particular state
is indicative of health or disease but, it is not in itself
sufficient as a basis for deciding whether abnormality or
variation represents health or disease in an individual or group.
This is especially true for genetic differences where it is already
known that wide variations exist in terms of the genetic makeup
of individuals that are not in any way manifest in their overt
features, traits or behaviors. Difference in and of itself does
not always make a difference.

However, it does seem that the definition of disease and health is
closely tied to those differences or abnormalities that are
disvalued by the individual or group. If a particular trait or
behavior or physical structure is seen as causing impairment,
dysfunction, pain, or other disvalued states then it is a prime
candidate for categorization as a disease.

The problem with linking values and abnormalities is that not all
states commonly recognized as diseases are necessarily indicative
of difference or abnormality. Nor are all dysfunctions or
impairments always disvalued. For example, every human being may
suffer from the common cold, acne, anxiety or dental caries.
The universality of these conditions does not make them any
more palatable or any the less disvalued. It is possible for a
state to be typical, normal, common or universal and nonetheless
for it to be sufficiently disvalued that it is classified by both
lay persons and health care professionals as disease.

Not every dysfunctional or impaired state is disvalued. Those who
do not wish to have children may rejoice to discover that they
have ovaries that are incapable of ovulation, lack a uterus or
possess testes that cannot create sperm. Someone born with only
one functioning kidney may remain entirely indifferent to and
even unaware of this dysfunction. Not all dysfunctional states are
necessarily disvalued meaning that not every abnormal state can
be viewed as a disease.

Nevertheless, there does appear to be a conceptual link between
abnormality, dysfunction and disvaluation. If we restrict the
definition of disease to cover only those mental or physical states
of human beings that are abnormal, dysfunctional and disvalued,
then we will be able to identify many of the diseases recognized
within a group or in a society.

Two questions confront those who admit the tie between disvaluation
and dysfunction. Is it possible to determine the existence of
dysfunction without invoking value judgments? If not, does
the presence of disvaluation as a key criteria of the definition
of health and disease makes these concepts so subjective as to be
either useless or extremely vulnerable to abuse by those powerful
enough or privileged enough to impose their personal values on others
(Caplan and Engelhardt, 1981; Engelhardt, 1986).

IV. XYY, Oculocutaneous Albinism and deafness and being short: Are
These Diseases?

There is no need to try and resolve the disputes about normality or
the role of values in the definition of disease in order to see what
the consequences of these disputes are for new knowledge that is
arising and will, it is to be hoped, continue to arise in the domain
of human genetics. The stance that those in clinical genetics adopt
toward assessing the significance of difference and abnormality at
the level of the genome, the role of values in defining genetic
disease and the need to link genetic disease to dysfunction will
play pivotal roles in what is done with the knowledge generated
by ongoing work to map and sequence the genome.

The question of how disease is currently assessed in the realm
of clinical genetics is not entirely a hypothetical one. Afterall,
counselors and clinicians have been treating patients for genetic
diseases for decades. It is instructive to look and see how they
currently define disease and health in order to try and forecast
how new knowledge about human heredity will be absorbed into
clinical and counseling practices. Two forms of genetic abnormality
illustrate how much uncertainty and confusion exists about both
the criteria that ought be used to define disease and the proper
application of the concepts of health and disease at the level of
genetic difference and abnormality.

Not so long ago a woman at a large medical center was informed by
a genetics counselor that the fetus she was carrying possessed an
abnormal chromosome. The child had XYY syndrome -- an extra Y
chromosome. The mother and father had sought genetic testing since
he was in an age group at somewhat higher risk for a different
genetic condition, Down's Syndrome. The information that the baby
had a different chromosomal abnormality from the one that had
concerned the parents came as a bit of a surprise. Subsequently,
in counseling sessions, the mother and father were told that a
few researchers had posited a connection between criminality
and this chromosome abnormality. They were also told that some
researchers believed there was also a link between this condition
and tall physical stature and even severe acne. After talking
about the situation with their family doctor and various friends
the couple decided to abort the pregnancy. Is XYY syndrome a
disease? If not, why were the parents told that it had been
detected? And if it is, is it a disease which merits aborting a
fetus with this condition?

OCA albinism is a disorder in which melanin is absent or
decreased in the skin, hair and eyes. Albinism actually refers to
a group of autosomal recessive traits in which the enzyme
necessary for melanin production, tyrosinase, is present or
absent in varying degrees causing a fair degree of heterogeneity.
Most forms of OCA albinism are associated with a very distinctive
set of complications (Abadi and Pascal, 1989). Tyrosine-negative
albinism, which occurs at a rate of about 1 in every 34,000 births
(Wyngaarden, 1989), is associated with extreme sensitivity to light
(photophobia), nystagmus, severe impairment in visual acuity, and
a greatly increased risk of squamous cell skin cancer.

The genes involved in OCA albinism are rapidly being mapped (Spritz,
et. al., 1990). Prenatal diagnosis is already a possibility using
fetoscopy to obtain samples of fetal skin or scalp hair around
the 16th week of development in order to see if the follicles
contain melanin, but, the relatively low incidence of the condition
and the costs involved mean that such testing is rarely
done. It will not be long, however, before a routine test will
be available to detect this genetic abnormality from any sample of
fetal DNA. But, unless albinism is a disease, why should anyone
try to detect it much less provide information about it to parents?

Looked at in light of the issues raised in the earlier discussion
of the definition of disease it is evident that decisions about
what makes a condition a disease have direct implications for what
will be done with information about XYY syndrome or OCA albinism.
If one subscribes to the disease as abnormality definition then
both conditions will constitute disease-states and both ought
be reported as such to parents. If one believes that it is
necessary to draw a connection between disease and dysfunction then
OCA albinism will certainly qualify as a disease whereas, in lieu of
more evidence, XYY syndrome may not. And if one takes the position
that to be a disease a state must be both dysfunctional and
disvalued then it is possible that neither XYY syndrome or
OCA albinism qualify as diseases.

My own view is that it is difficult to defend the decision
to label either XYY syndrome or OCA albinism as diseases. The
former is an abnormality for which there is no reliable evidence
that it causes or is associated with dysfunction. The latter is
an abnormality that produces dysfunction but, the problems
associated with the condition are readily amenable to various
interventions and coping strategies. It seems accurate to say
that a person with OCA albinism is not diseased, but
they do have an abnormality which causes some impairment.

Deafness and the decision to screen and abort

It should be obvious that the decisions which are made regarding
the application of the concepts of health and disease in the
realm of genetics require explanation and justification. It should
also be obvious that not everyone will arrive at the same
conclusion about the classification of human genetic differences
since they may hold different views about what it is that
justifies classifying a trait or characteristic as a disease,
an abnormality or a healthy state. Serious consequences follow
the determination of disease states. Those in clinical genetics
who diagnose and treat genetic diseases must not invoke the oft-
espoused desire to remain value-neutral as a rationale or an
excuse for avoiding the obligation to carefully think through
the criteria that are now used, or others that might be used in
the future, to classify genetic diversity and differences as
indicative of health or disease.

V. Implications of Defining Disease for the Study of the Human
   Genome.

The realization that there is a broad spectrum of opinion about
what makes something a disease is troubling in speculating about
the ways in which new knowledge about the human genome is likely
to be analyzed and classified. It is important to remember that much
of the information that is likely to be acquired will reveal far
more about the structure and composition of the genome than
it does its function. If we forget this, there is a grave danger
that the disease as abnormality approach will find fertile ground
in the realm of genetics in the future.

Some agreement must be reached about whether it is necessary to
establish a link between genetic information and dysfunction, or
between dysfunction and disvaluation in order to establish
the disease status of particular bits of the genome. Otherwise,
increased screening and testing will reveal more and more
differences and variations among our genomes which will lead an
incoherent set of responses in terms of counseling, reproductive
choices and therapy. While consistency need not always be desirable,
it seems morally incumbent on those who will be faced with the
challenge of applying new knowledge about the genome to strive for
some sort of professional and societal consensus as to how these
questions ought be answered.

For the present it seems clear that the first wave of new
information about the human genome is likely to bear a fair
amount of news about human differences that may have uncertain or
unknown phenotypic consequences. Clinical genetics is still in
its infancy. As such it ought proceed with great caution in
labelling states or variations as abnormal much less diseases.
For now, clinical genetics ought restrict itself to the
identification and assessment of only those genetic states which
are known to be dysfunctional as well as different. It should
discourage efforts to allow 'fishing expeditions' to become part
of prenatal, carrier or workplace screening. And, it should assert
clearly that the central goal of human clinical genetics is the
prevention or amelioration of disease not the improvement of the
genome. It is important to note that abjuring eugenics as a proper
goal of clinical genetics is not the same thing as foregoing any
effort to meddle or intervene with the genetics of reproductive
cells.

VI. Please Leave Us Alone, We Promise to Be Good!

Those who believe in the value of the human genome project, a
group to which I belong, often try to calm fears about the
misapplication of the knowledge the project intends to create
by assuring all within earshot that their intentions are pure.
This promise meets the concern of some of the harshest critics
of the project (Rifkin, 1985a, 1985b). A few of those who doubt
that humankind knows what to do with more information about its
own hereditary makeup or who simply believe that it is unnatural
to mess around with genes sometimes try to arouse legislative
or public concern by spinning scenarios in which man-animal
chimeras slink out of the corridors of MIT, Cal Tech, Genentech
or Fort Dietrich to commit maniacal man-animal misdeeds against
hapless humans. If such grim scenarios aren't scary enough, the
occasional critic resorts to even more horrifying futuristic
timeworms in which hordes of clones derived from the embryos
of businessmen, sports stars, and politicians (no attempt is
made to mitigate the horror) descend on an unsuspecting and
defenseless world. In the most hyperventilating form of such
criticism warnings are issued that if the genome project is not
stopped now the result will inevitably be a planet teeming with
millions of knockoff copies of Adolph Hitler, Genghis Khan,
Saddam Hussein, Idi Amin and Joseph Stalin.

Those who want the genome project to proceed apace are quite willing
to promise never to xenograft a gene or clone Adolph Hitler. If,
by promising not to clone or even to perform germline interventions
the defenders of the genome project can allay the fears of their most
strident and publicly visible critics, they are more than happy to
do so (Anderson, 1989; Hall, 1990). This is especially true when
the science fiction scenarios being spun are either scientifically
impossible (cloning Hitler) or well beyond the reach of contemporary
science (gene xenografting).

The greatest challenge to securing continuing funding for the
genome project does not originate from concerns about privacy,
confidentiality or coercive genetic testing. It is eugenics,
manipulating the human genome in order to improve or enhance the
human species, that is the real source of worry. This is reflected
in the content of the futuristic horror scenarios spun by the
project's critics (Swazey, this volume). It is also rooted in
the historical reality of social policies based upon eugenics that
led to the deaths of millions in this century (Proctor, 1988,
and Proctor, this volume).

Promising not to do anything that remotely hints of germline
engineering, where eugenics is the goal, is relatively easy
for those connected with the genome project since none of
them believe that anyone is even remotely close to knowing how
to alter the germlines of a human being, much less whether
germline engineering will actually work. If the situation were
different with respect to the practicality of germline
interventions, then statements to the effect that germline
intervention ought never be attempted might be far more muted.
Even without the prospect of imminent application, they should be.

The promise never to do germline engineering, invoked merely as
an expedient way to silence critics, is implausible because it
rests on a flimsy moral foundation. Why shouldn't a couple
concerned about passing along hemophilia or sickle cell disease
hope that medicine can help alter their genomes so as to minimize
their risks of doing so? Why shouldn't clinicians fervently want to
undertake some forms of germline interventions so as to eliminate
diseases such as Tay-Sachs, thalessemia, or Hurler's syndrome?

If it were possible to eliminate a lethal gene from the human
population by germline alterations is there any convincing moral
reason why this should not be done? If those carrying a lethal gene
request treatment so that they are able to reproduce without
guilt or fear, ought not health care providers feel not reluctance
but a duty to help them? If the prevention and treatment of disease
are the goals of human clinical genetics then not only should
germline therapy not be forgone it may be morally obligatory in
cases where no somatic therapy is possible.

VII. Should Germline Interventions Be Forgone?

Some believe that any attempt at germline therapy is wrong since
it requires imposing the risk ofharm on future generations either
by causing unanticipated side-effects in unborn infants or by
introducing dangerous genes into the gene pool. Future persons
have no say in whether or not they consent to having risks imposed
upon them. They, not their parents or ancestors, will suffer
should attempts to manipulate the germline produce untoward
results. Many bioethicists (Ramsey, 1970; Kass, 1975; Levine,
1986) believe, and existing government policy in the United States,
Germany and other nations maintains, that it is wrong to impose
the risk of serious harm on those who cannot themselves consent.
Newborns, very young children, the severely mentally ill and the
severely mentally retarded should simply not be recruited as the
subjects of research.

The other major reason for not undertaking germline interventions
is that hereditary information which is of value, not for the
individual but for the species, may be lost. If lethal or
disabling genes are removed from a certain individual's gametes
it may be that benefits conferred on the population when these
genes recombine with other, non-lethal genes will be lost.

The other argument against germline therapy is that no one would
really want to use it for the purposes of eugenics. But this is
patently false.

Even putting aside Germany's three decades long embrace of race
hygiene and eugenics (Proctor, this volume) there are examples in
our own time of governments and private organizations avidly
and unashamedly pursuing eugenic goals. The government of
Singapore instituted numerous eugenic policies during the 1980s
including a policy of providing financial incentives to 'smart'
people to have more babies (Chan, 1987). The California-based
Repository for Germinal Choice, known more colloquially as the
Nobel Prize spermbank, has assigned itself the mission of
seeking out and storing gametes from men selected for their
scientific, athletic or entrepreneurial acumen. Their sperm is
made available for use by women of high intelligence for the
express purpose of creating genetically superior children who can
improve the long-term happiness and stability of human society.
Few protests have greeted these activities whereas the hypothetical
suggestion of someday directly modifying the genetic blueprint of
a sperm or an egg has elicited great concern in many quarters.

Granted, eugenics has been horribly abused in the past and may
still result in terrible abuses today. But, it is simply a
confusion to equate eugenics with any discussion of germline
therapy.

Should scientists or clinicians really promise never to try to
eliminate or modify the genetic messages contained in a sperm or
an egg if that message contains instructions which may cause
sickle cell disease, Lesch-Nyhan Syndrome or retinoblastoma. The
grim history of eugenically inspired social policy tells why it
is important to protest and even prohibit the activity of the
Nobel sperm bank or to vehemently criticize the birth incentive
policies of Singapore (Duster, 1990). It does not provide an
argument against allowing voluntary, therapeutic efforts using
germline manipulations to prevent certain and grievous harm
from befalling future persons.

There is no slope that leads inexorably from therapeutic
germline interventions intended to benefit future persons to
the creation of eugenically-driven, genocidal social policies.
Nazi eugenic policies were not aimed at benefitting individuals.
The state or the Volk, not the individual, was the object of Nazi
eugenic policy. Public health not individual therapy was the
driving force behind the Nazi medicalization of eugenics.

Worries about imposing harms on future persons without their
consent or robbing the gene pool of the value of diversity are
even less persuasive reasons for foreswearing germline
intervention. If the harms that will befall as yet unborn person
are serious, even fatal, then it is far from self-evident that it
would be wrong to try and prevent the harm even if it means the
imposition of possible risk on the child who will be born. The risk
must be such that the child who is the involuntary subject of
germline experimentation is at grave danger of being made worse
off by the intervention than would have been true had the child
been born with no effort to alter his or her genetic defect. Some
genetic diseases are so miserable and awful that at least some
genetic interventions with the germline seem justifiable.

It is at best cruel to argue that some people must bear the burden
of genetic disease in order to allow benefits to accrue to the
group or species. At best, genetic diversity is an argument for
creating a gamete bank to preserve diversity. It is hard to see
why an unborn child has any obligation to preserve the genetic
diversity of the species at the price of grave harm or certain
death.

Forgoing efforts at germline engineering make some political
sense in the current climate of concern about the genome project.
But, they make no sense conceptually or ethically. The danger
inherent in such stances is that they will result in important
benefits being delayed or lost for persons who have impairments
or diseases that might be amenable to germline engineering. The
way to handle legitimate concerns about the dangers and potential
for abuse of new knowledge generated by the genome is to
forthrightly examine what are and are not appropriate goals for
those who provide services and interventions in health care.
There is nothing sacrosanct about the human genome. It is only
our inability to openly and clearly define what constitutes disease
in the domain of genetics that makes us feel that intervention
with the germline is playing with moral fire. If it is eugenics we
abhor then it is eugenic goals which should be forgone.


[log in to unmask]      That man may last, but never lives,
                        Who much receives, but nothing gives;
HomeBoy                     Whom none can love, whom none can thank,--
                               Creation's blot, creation's blank.
John Cottingham           Thomas Gibbons (1720-1785): When Jesus dwelt.