Parents shouldn't feel guilty about prenatal screening

http://chronicle.com/weekly/v54/i36/36b01401.htm



By RUTH SCHWARTZ COWAN

The connection that critics make between medical genetics and eugenics
is historically fallacious. Activists on the political right are as
mistaken as activists on the political left: Genetic screening was not
eugenics in the past, is not eugenics in the present, and, unless its
technological systems become radically transformed, will not be
eugenics in the future.

The technologies of medical genetics were not constructed with eugenic
goals, and the practices of medical genetics will not produce eugenic
results --neither directly through the actions of medical experts nor
indirectly, as the sociologist Troy Duster likes to say, through the
"backdoor" of patients' compliance with experts' instructions.

There is, to start with, no meaningful historical connection
betweenthe enterprise once called eugenics and the enterprise now
called medical genetics. There were certainly some Mendelian
geneticists who were eugenicists, but the vast majority of classical
geneticists figured out, early on, that most of the eugenic claims
made about the inheritance of feeblemindedness and alcoholism were, if
not entirely false, then at least undemonstrated. Human genetics, the
genetics of probability and statistics in large populations, the
genetics of allelic frequencies and mutation incidences, indeed had
some eugenicists among its founding fathers and mothers, but medical
genetics owes very little to it.

Medical genetics is, first and foremost, a medical specialty. During
the formative years of the specialty, roughly between 1960 and 1980,
most physicians were not interested enough in human genetics to take
the trouble to understand it, largely because human genetics was then
focused on evolutionary questions, not on matters pertinent to
clinical practice.

The foundational science for medical genetics is classical Mendelian
genetics: the genetics of dominant and recessive genes strung like
beads along chromosomes. This is the genetics that provided the
foundation on which the technological systems of genetic screening --
newborn screening, carrier screening, prenatal diagnosis --were built.
Classical geneticists were not, by and large, eugenicists, and neither
were the physicians who constructed those systems on the foundation
that the geneticists laid. By the time molecular genetics, the
genetics of DNA and RNA, of sequences of molecules and production of
proteins, had advanced far enough to be useful for screening purposes
(the mutation that produces sickling hemoglobin was the first mutation
whose location was pinpointed, in 1978), the technologies of genetic
screening had been routinized for more than a decade. Some of the
scientists who lobbied for funding of the Human Genome Initiative may
have used the rhetoric of eugenics when speaking to venture
capitalists, legislators, and bureaucrats, but most of them (for
example, Robert Sinsheimer, Joshua Lederberg, and James Watson) were
molecular biologists, not medical geneticists; they had no medical
training or clinical experience, and they played no role whatsoever in
the development of the technological systems through which genetic
screening is practiced.

Technological systems are built to achieve certain goals; those goals
get hard-wired, as it were, into the components of the system. The
chief goal of the eugenicists, "improvement of the race," was never
one of the goals of genetic screening --and it did not become one,
even after genomic research had identified the locations of dozens of
disease-causing mutations. The founders of eugenics differed about
which race they had in mind: Some meant "the white race," some "the
German race," some "the Mexican race," and some, even, "the human
race." The founders of medical genetics, however, made deliberate
efforts to separate themselves from what James Neel called "the
parlous intellectual state" of eugenic research and practice because
they thought it politically and scientifically correct to do so.

From the very beginning, the founders of medical genetics
--people like Neel, Fritz Fuchs, Michael Kaback, and Robert Guthrie
--viewed their basic project as the relief of human suffering, not
improvement of the race. Relief of suffering might, in their view,
also improve the health of races or populations or societies, but
improving the health and well-being of individuals was always their
primary goal. Some of the individuals they wanted to help were people
who had already borne children who were struggling with painful and
disabling diseases like ß-thalassemia or muscular dystrophy.
Geneticists wanted to reduce the suffering of both parents and
children by helping the parents to have additional children, and by
ensuring that those additional children would be free of the disease.
Other individuals who could be helped were those who knew themselves
to be at risk and were repressing their desire to have children for
fear that the risk would become reality, that the risk status of the
parent would be visited upon the child.

The reproductive goals of medical genetics are thus precisely the
opposite of those of eugenics. Eugenicists wanted to ensure that the
people they defined as genetically unfit did not reproduce; that is
why they pushed for sterilization and segregation. Genetic screening
was developed by medical geneticists to help the genetically "unfit,"
precisely the people the eugenicists would have sterilized, have as
many children as they wanted. The earliest patients who were referred
to medical geneticists for counseling were people who suspected (or
whose doctors suspected) that they carried the genes for serious
diseases. Prenatal diagnosis was developed to assure those worried
patients that they could have children free of the disease they
feared. To put the matter another way: The practices of genetic
screening are inherently pronatalist. By supporting parental hopes for
reasonably healthy children, they encourage at-risk couples to reproduce.

The presumed connection between eugenics and medical genetics is not
the only criticism of genetic screening that turns out to be
historically ill founded; there are several others. Reproductive
feminists claim, for example, that genetic-screening techniques were
developed by inappropriate experimentation on women's bodies
--but it seems unlikely that Fritz Fuchs's first amniocentesis
patient, who was able to carry her pregnancy to term without fearing
that she would give birth to a boy with hemophilia, or the several
dozen Cyp-riot women who subjected themselves to fetoscopy to ensure
that they would not raise another child with thalassemia, would agree.

Disability activists claim that genetic screening is a form of
discrimination against the disabled --but it seems unlikely that the
parents who banded together to form associations like the National
Tay-Sachs Disease Association or the Cyprus AntiAnaemic Society or the
National Association of Retarded Citizens would agree.

Disability activists also worry that as genetic screening diminishes
the number of children born with disabilities, services to disabled
people will decrease. There is no evidence to suggest that this has
happened, even though screening programs have existed for decades. In
Cyprus, discrimination against thalassemic people has lessened as the
number of babies born with the disease has fallen. In the United
States, school systems have been required to provide special
educational services for disabled children, and all kinds of public
facilities have been modified to accommodate their needs --in the same
years that prenatal diagnosis became common practice. In most states,
legislation has made it illegal for insurance companies to drop
clients who decide to go forward with pregnancies after receiving
worrying prenatal diagnoses. Contrary to what some disability
activists assume, many people support widening the rights of disabled
children and adults while simultaneously believing that abortion for
fetal indications is morally wise.

Reproductive feminists have also claimed that what they call selective
abortion violates the essential morality of motherhood, turning the
ideal of nurturing care into the ideal of quality control. The legions
of feminists (as well as the legions of women who are not feminists)
who have sought --and even sued to get --prenatal diagnosis for Down
syndrome are not likely to agree with them.

Such women are, indeed, rejecting some traditional ideas about
motherhood, particularly the notion that the ideal mother is willing
to sacrifice herself for her children. By choosing prenatal diagnosis
and the possibility of abortion, such women are asserting that they
would prefer not to sacrifice themselves to caring for a chronically
dependent, suffering child, and that there are other significant
social roles that they hope to play in the course of their lives
--spouse, employee, friend, athlete --that would be very difficult or
impossible to combine with such care.

Many of these women have put off childbearing to complete their
educations or build employment résumés, which means that they are at
increased risk of bearing a child with Down syndrome.

Reproductive feminists and abortion opponents have also argued against
genetic screening on the grounds that it increases the frequency of
abortion --but it is unlikely that women (and men, for that matter)
who know they are carriers of single-gene mutations will see it quite
the same way. Were it not for prenatal diagnosis, these people might
terminate all the pregnancies they carried or caused to be carried.
The physicians who created thalassemia-screening programs on Cyprus
would not agree either; they knew how often the parents of their
patients were terminating pregnancies.

Genetic screening increases reproductive choice, and it also provides
hope, hope that many parents never had before --hope of having, not a
perfect child, but a child who, at least at the start of life, is free
of devastating disease or overwhelming disability.

Screening has become a routine practice in many different countries,
and in many different social circumstances, for precisely these good
reasons.

Negative consequences, for individuals or for the ethnic communities
to which they belong or for the national societies of which they are
citizens, have been rare. Surely, then, the time has come for
prospective parents to stop feeling guilty about participating in
screening, and for historians, social scientists, and journalists to
stop warning about its hidden eugenic evils. Those evils do not exist
--and continuing to insist that they do is an attempt to further a
political agenda by making good people feel unnecessarily guilty about
their fundamentally wise and moral behavior.


Ruth Schwartz Cowan is a professor of history and sociology of science
at the University of Pennsylvania. This essay is excerpted from
Heredity and Hope: The Case for Genetic Screening, to be published in
May by Harvard University Press. Copyright Harvard University Press.