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The International Library of Bioethics 88
Megan A.Allyse
MarshaMichieEditors
Born Well:
Prenatal Genetics
and theFuture
ofHaving Children
The International Library of Bioethics
Founding Editors
David C. Thomasma
David N. Weisstub
Thomasine Kimbrough Kushner
Volume 88
Series Editor
Dennis R. Cooley, North Dakota State University, History, Philosophy, & Religious
Studies, Fargo, ND, USA
Advisory Editor
David N. Weisstub, Faculty of Medicine, University of Montreal, Montréal, QC,
Canada
Editorial Board
Terry Carney, Faculty of Law Building, University of Sydney, Sydney, Australia
Marcus Düwell, Philosophy Faculty of Humanities, Universiteit Utrecht, Utrecht,
Utrecht, The Netherlands
Søren Holm, Centre for Social Ethics and Policy, The University of Manchester,
Manchester, UK
Gerrit Kimsma, Radboud UMC, Nijmegen, Gelderland, The Netherlands
Daniel P. Sulmasy, Edmund D. Pellegrino Center for Clinical, Washington, DC,
USA
David Augustin Hodge, National Center for Bioethics, Tuskegee University,
Tuskegee Institute, AL, USA
Nora L. Jones, Center for Urban Bioethics, Temple University, Philadelphia, USA
The International Library of Bioethics – formerly known as the International
Library of Ethics, Law and the New Medicine comprises volumes with an
international and interdisciplinary focus on foundational and applied issues in
bioethics. With this renewal of a successful series we aim to meet the challenge of
our time: how to direct biotechnology to human and other living things’ ends, how
to deal with changed values in the areas of religion, society, and culture, and how to
formulate a new way of thinking, a new bioethics.
The International Library of Bioethics focuses on the role of bioethics against the
background of increasing globalization and interdependency of the world’s cultures
and governments, with mutual influencing occurring throughout the world in all
fields. The series will continue to focus on perennial issues of aging, mental health,
preventive medicine, medical research issues, end of life, biolaw, and other areas of
bioethics, whilst expanding into other current and future topics.
We welcome book proposals representing the broad interest of this series’
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addressing aspects of changes in biological and medical research and clinical
health care, health policy, medical and biotechnology, and other applied ethical
areas involving living things, with an emphasis on those interventions and
alterations that force us to re-examine foundational issues.
More information about this series at https://link.springer.com/bookseries/16538
Megan A. Allyse · Marsha Michie
Editors
Born Well: Prenatal Genetics
and the Future of Having
Children
Editors
Megan A. Allyse
Program in Biomedical Ethics Research
Mayo Clinic
Jacksonville, FL, USA
Marsha Michie
Department of Bioethics
Case Western Reserve University
Cleveland, OH, USA
ISSN 2662-9186 ISSN 2662-9194 (electronic)
The International Library of Bioethics
ISBN 978-3-030-82535-5 ISBN 978-3-030-82536-2 (eBook)
https://doi.org/10.1007/978-3-030-82536-2
© Springer Nature Switzerland AG 2022
Chapter 5 is licensed under the terms of the Creative Commons Attribution 4.0 International License
(http://creativecommons.org/licenses/by/4.0/). For further details see license information in the chapter.
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Introduction
The landscape of prenatal screening has changed dramatically since the mid-1980s,
when Alfa-Fetoprotein (AFP) and other serum markers were first used as fetal
screening protocols. As we enter the third decade of the twenty-first century, we
are rapidly moving into a phase of prenatal care in which broad spectrum genetic
screening of fetal DNA is becoming routine. Fetal exome and genome sequencing,
still largely conducted under research protocols, will almost certainly be integrated
into clinical prenatal care within the next few years. At the same time, polygenic risk
scores are being offered for assisted reproduction, promising to measure increasingly
detailed metrics of which embryo is most likely to result in the “best” child (Treff
et al., 2019). The ability to detect mosaicism, HLA type, and key genetic markers
of disease presents potential parents with a widening array of choices even before
pregnancy begins. And in 2019, the prospect of deliberately altering human embryos
to determine certain traits entered the conversation when a Chinese scientist claimed
to have used CRISPR-CAS9 technology to alter the genes of several embryos in an
effort to confer increased immunity to HIV/AIDS (Allyse et al., 2019). All of these
technologies present the potential to improve standards of “health,” and indeed to
alter the ways in which we define health itself. Despite condemnation of the prema-
ture use of germline CRISPR modifications, responses to the potential avoidance
of disease through embryo selection have largely been positive. Parents of children
with serious hereditary conditions have hailed prenatal screening and preimplantation
genetic diagnosis as a means to avoid the suffering associated with conditions such
as sickle cell anemia or alpha thalassemia (Hill, Compton, Karunaratna, Lewis, &
Chitty, 2014; Farra et al., 2008; Darbari et al., 2018). And certain communities, such
as the American Ashkenazi Jewish community, have elevated carrier screening and
PGD to a systematic effort to eliminate Tay–Sachs disease in their population (Gross,
Pletcher, & Monaghan, 2008). Some scholars have gone so far as to imagine a future
in which all pregnancies are not only predicted but planned, with every embryo
undergoing scrutiny before it becomes a potential fetus (Greely, 2016).
But as Rayna Rapp detailed in her seminal work on amniocentesis, the ability to
learn ever greater amounts of biological information about the developing fetus has
both advanced maternal fetal health and created an ever widening set of social and
v
vi Introduction
ethical dilemmas about the consequences of that information and how we act on it
(Rapp, 1999). At the core of such debates is the question of who should or should
not be born and the gatekeepers that make or substantially influence those decisions.
As we move into an era in which genetic science, and the choices it makes possible,
increasingly shape our offspring, we continue to ask ourselves how far we should
go in an effort to give those offspring a “good birth.” What does it mean to have a
“healthy” child–to ensure our children are born “well”?
The term “eugenics,” coined in 1883 by British scientist Francis Galton, translates
directly into “good birth” (Galton, 1904) Early eugenicists conceptualized selecting
which births went forward as a means of improving health on the grounds that healthy
people led to healthy, and thus more virtuous, societies. Thus, public campaigns to
encourage prudent selection of spouses and healthy habits for children formed the
“positive” arm of the eugenics movement. But the movement also included systemic,
State-led programs enacting targeted elimination of certain classes of individuals,
typically the poor and racial/ethnic minorities. The California eugenics laws of
the early twentieth century, for example, focused on individuals deemed “unfit”
or “feeble minded”: terms that were frequently weaponized against women of color
(Stern et al., 2017). Such programs were prominent in the United States in the 1920s
and 30s, and many of the practices commonly attributed to the Third Reich in their
pursuit of racial cleansing were inspired by and drawn from United States eugenic
policies (Black, 2003). Societies now widely condemn such practices, and rightly
so. But as Troy Duster points out, the expanding control that medicine provides
over which children are chosen and birthed essentially leads us to a different form
of eugenics (Duster, 2003). This “backdoor” to eugenics means that, in a societal
context in which power and wealth accrue to those with particular physical charac-
teristics, it is realistic to expect that parents who can choose more valorized physical
characteristics will often do so. Those choices not only include being male, tall, and
fair-skinned (all of which correlate in the US to higher salary)(Hamstra, 2014) but
also the absence of disabling conditions–since people with disabilities face significant
social and economic disadvantages.
Prenatal screening and testing technologies are often promoted on the basis of
increasing parental autonomy and reproductive liberty. The goal, many claim, is
not to promote genetic selection but to aid parental “preparation” and informed
choice. But as Duster points out, enlightened self interest does not result in equity
unless all other features of the social environment are held constant (Duster, 2003).
Individual choices, while reasonable in the context of the social situation in which
people are embedded, can, in aggregate, amount to major population-level change.
Even when individuals acknowledge that these forces are damaging, few parents
would resist making choices that benefit themselves and their potential child. In a
society in which there remain significant physical, social, economic, and political
disparities, it is reasonable for a responsible parent to select the child most likely
to thrive in that society (Hvistendahl, 2011). Does this logic render the selection of
embryos unethical or does it suggest that the technology cannot create injustice in
a vacuum? Does surveillance technology like prenatal screening and testing create
Introduction vii
social difference or does it merely allow us to project our existing inequalities and
biases into the womb?
Ethical arguments for and against selective pregnancy termination have been
debated since the first technologies for prenatal screening and diagnosis appeared on
the horizon. In many ways, those underlying ethical arguments have not changed.
What is new,as technological possibilities have changed, diversified, and accelerated,
are the massively wider social and ethical consequences of these technologies. As
these new technologies appear and become broadly available, even routine, a large-
scale change in the human phenotype is now more than a science fiction fantasy. And
as these possibilities come closer to everyday reality, it is crucial to revisit the ethical
and social arguments about prenatal testing and selection from the perspectives of
both individual families and whole societies. In the chapters that follow, we will
explore these dilemmas from a variety of perspectives. The authors represented here
are far from comprehensive. No one volume can encompass the array of perspec-
tives on a set of issues that are arguably relevant to everyone in our society. But
the chapters that follow represent a cross section of the debates we are having, and
will continue to have, as the practice of prenatal medicine continues to incorporate
increasing amounts of technological information.
Part I
We begin with an overview of the current clinical landscape and the ways in which
practitioners, who encounter women and families every day, envision their profes-
sion moving forward. In Chap. 1, Ruth Farrell, a practicing OB/GYN and bioethi-
cist, offers insight into how the increasing amount of genetic information available
during pregnancy may or may not change the practice of obstetric and maternal–
fetal medicine and its outcomes. Among the many ethical and societal issues are
the everyday decisions families and practitioners make. How much information is
too much? When does the volume of genetic information drown out more prosaic,
but reliable, measures of health and wellness? These are themes that continue in
the following chapter by Wendy Chung, a clinical geneticist, on pediatric medicine
and its adaptations to genomic information. Both authors point out that while the
clinical translation of genomic technologies has proceeded with a momentum of
its own, it remains unclear the extent to which outcomes, both subjectively and
objectively measured, will see concrete improvement. With each major advance in
prenatal genetic and genomic technologies we return to many of the same issues.
Technologies do not pre-determine the ways in which they may be used, though social
and ethical ideas about intended uses shape those technologies from the beginning.
And as more voices have entered scientific, medical, and ethical conversations about
prenatal genomics we have begun to bridge the micro-level debates about the contours
of specific technologies with macro-level debates about social uses of genomics. In
that middle space lies the individual decision-making of parents and families, guided
viii Introduction
by individual encounters with healthcare providers; yet these are invisibly shaped by
both the technologies themselves and our social understandings of genomics.
Part II
Among the first organized groups to critique prenatal genetic testing were families of
people with Down syndrome–not surprisingly, since Down syndrome was one of the
first targets of prenatal testing, and remains the lens through which many view both
prenatal testing and genetic conditions more generally. The voices of advocates in
the Down syndrome community, even today, are particularly prominent and eloquent
in debates over prenatal screening. Down syndrome is the most common chromo-
somal condition in live-born babies, it entails distinctive facial features that are easily
recognizable, and it is among the easiest conditions to look for during pregnancy.
Down syndrome has been the subject of prenatal testing for over 50 years, and is
part of all current prenatal screening and testing protocols. And the very definition
of “high-risk” pregnancy due to advanced maternal age is based on the intersec-
tion between the procedure-related risk of amniocentesis and the age-related risk of
Down syndrome (Kuppermann & Goldberg…, 1999). But the perceived severity of
Down syndrome has changed radically over those past fifty years, due primarily to
parents’ and advocates’ insistence on de-institutionalizing and mainstreaming chil-
dren with Down syndrome. Those social changes account for the meteoric rise in life
expectancy for people with Down syndrome, from approximately 20 years in 1970
to over 60 years today (Saul & Meredith, 2016).
Part II explores some ways that people in Down syndrome and other disability
communities view prenatal screening and testing and what those perspectives can
teach us about expanding into other conditions. In Chap. 3, Mark Leach discusses
some parallels between current-day prenatal genetic testing programs and eugenics
programs of the past, concluding that these common features could be counter-
acted by funding models that do not subsidize the tests themselves without also
providing funding for genetic counseling and up-to-date information for families.
Louise Bryant and Tom Shakespeare, in Chap. 4, review recent empirical research
with people with disabilities and their families to highlight disconnects between their
lived experience and the more negative information and attitudes toward disabilities
conveyed by healthcare providers and policymakers in discourses about prenatal
genetic testing. In Chap. 5, Christopher Kaposy builds upon his previous work on
the expressivist critique of Down syndrome testing, expanding upon these arguments
to address the ever-broadening panels being offered via prenatal cfDNA screening,
chromosomal microarrays, and preimplantation genetic diagnosis–along with other
prenatal technologies on the horizon such as whole genome sequencing and CRISPR
gene modification.
Introduction ix
Part III
As multiple technologies of prenatal genetics and genomics have moved from labo-
ratory discovery into clinical innovation and cultural experiences of pregnancy and
childbirth, we have grappled with them–individually and as a whole–in philosophy,
theology, social science, and the humanities. What is the meaning of genetic health
or disability? What cultural, religious, and socioeconomic forces nudge pregnant
women and families toward or away from an imperative to know genomic infor-
mation about their future child? And how do those broader forces shape clinical
encounters and decisions that are never, as we imagine, simply “between a woman
and her doctor”? Insights from cultural, social, and religious studies can help us
understand these encounters and decisions more deeply than as a simple, rational
weighing of pros and cons, barriers and facilitators.
We start, in Chap. 6, with “the hypothetical healthy newborn,” a theoretical figure
that literary, bioethics, and disability studies scholar Rosemarie Garland-Thomson
summarizes as “a promise that cannot be kept.” As an idealized concept that never
matches the necessary imperfection of a real child, Garland-Thomson argues that
clinical genetic technologies simultaneously chip away at the ideal of the healthy
newborn with diagnostic information and, continually and increasingly, hold out the
promise of approaching that ideal through knowledge and treatment. But while poten-
tial parents may take advantage of opportunities to know about, treat, and/or termi-
nate their fetus in order to approximate the hypothetical healthy newborn, Garland-
Thomson proposes an alternative: to consider the vitality of a distinctive, growing
being as a range of human variation to be celebrated and accommodated.
Discussions of prenatal screening in United States discourse inevitably bring up
the possibility of pregnancy termination. Indeed, some observers in the Evangel-
ical community have decried all prenatal screening because it suggests, to them, the
acceptability of termination based on the findings. For these believers, the fetus in
the womb is the future child chosen by God for this family and no medical surveil-
lance should suggest otherwise. While this approach ignores the other clinical and
psychosocial value that fetal information may have, it nevertheless has significant
adherents, including former Senator Samuel Brownback, a vocal opponent of abor-
tion under any circumstances. One tradition that has engaged with historic opposition
to pregnancy termination in a more nuanced way is the Roman Catholic Church.
Although Catholicism is by no means the only religious tradition to grapple with
prenatal surveillance and disability, we include it here for two reasons. One, institu-
tions run in the Catholic tradition are the fastest growing health systems in the United
States, and Catholic outreach around health is prevalent worldwide (Wascher,Hebert,
Freedman, & Stulberg, 2018). Secondly, given its long history of concerted schol-
arship around issues of health and medicine, the Catholic Church has one of the
most clearly articulated bioethical traditions of all major religions. In his chapter,
Fr. Kevin Fitzgerald explores how the Church’s thinking on prenatal information has
evolved as technologies have advanced. A historically pro-natalist organization, the
Church has struggled to balance the health goals of prenatal screening with concerns