Points of View: Sex Selection & Cosmetic Genetics. 2015
Introduction
Prenatal screening for various genetic disorders has been common practice for decades. In tandem, the use of
prenatal screening techniques for sex selection has grown throughout the world, raising concerns over gender bias,
potential social upheaval, and moral qualms over the direction of reproductive medicine in general and of genetics in
particular.
With the completion of the Human Genome Project in 2003 and the first whole-genome sequencing of a fetus in
2012, cosmetic genetics -- the prenatal selection of desired genetic traits -- may in fact become a reality. As
understanding of the complex human genetic code increases, so too do the possibilities for medical and social
advances, as well as the public fears over ethics and potential consequences.
Understanding the Discussion
Eugenics: The concept that humankind, or a particular subgroup thereof, can be improved through heredity.
"Positive eugenics" historically refers to the idea that those with desirable traits should reproduce more, while
"negative eugenics" refers to the idea that those with traits deemed undesirable should be prevented from
reproducing.
Family balancing: Refers to sex selection in cases in which a family has a child (or children) of one sex and wishes
to use fertility treatment options to bear a child of the opposite sex. This term is used primarily by fertility clinics
and proponents of sex selection.
DNA sequencing: The process used to determine the arrangement of A, T, G, and C nucleotide bases in an
organism's chromosomes; most often refers to decoding human DNA.
In vitro fertilization (IVF): A fertility treatment in which egg cells are surgically removed from an ovary and then
fertilized by sperm cells in a petri dish or test tube; one or more resulting embryos are later implanted in the uterus.
Pre-implantation genetic diagnosis (PGD): An IVF technique in which one cell from a three- or five-day-old
embryo is removed and its chromosomes analyzed to check either for genetic abnormalities or for the sex
chromosomes contained within it. If selected, the remaining cells in the embryo are implanted; if an embryo is not
selected, it may be donated for scientific research or discarded, at the parents' discretion.
Sperm sorting: An IVF technique in which sperm cells are chemically separated into X chromosome -- carrying
(female) or Y chromosome -- carrying (male) groups to increase the chance of successfully conceiving a fetus of the
desired sex.
History
In the late nineteenth and early twentieth centuries, elites in the United States and in Europe favored eugenic
practices -- efforts to promote birth among better-advantaged members of society, as well as governmental and
social measures designed to prevent or reduce pregnancies among populations deemed inferior. One result in the
United States was that women who had heritable conditions, came from ethnic or racial minorities, were poor, or
engaged in "immoral" activity, were frequently targeted for institutionalization and often underwent forced
sterilization. Standardized intelligence testing and immigration restrictions were other strategies employed by
eugenicists to maintain the American "genetic stock." Nazi Germany borrowed heavily from American eugenics
research and sterilization practices, causing the eugenics movement to largely fall out of favor in the United States
after World War II. Modern discussions of genetic selection often raise fears of a return to those kinds of statebacked eugenic programs.
Beginning in the 1950s, various methods of prenatal testing for single-gene mutations, chromosomal abnormalities,
and sex-linked conditions -- as well as discovering fetal sex -- emerged. The modern procedure of amniocentesis
(removal and testing of amniotic fluid) was developed in 1956 with the specific intention of determining fetal sex.
Over time, it became a standard test for a wide variety of conditions, from hemophilia to Down syndrome. Typically
done between fifteen and twenty weeks, the procedure carries a small risk of harm to the developing fetus. Obstetric
ultrasonography became commonplace in the mid-1960s. Ultrasound technology is considered noninvasive and
allows medical practitioners to monitor the development of the fetus, including the external sex organs at around
eighteen to twenty-two weeks' gestation. In 1984, chorionic villus sampling (CVS) was made available to the public.
In CVS, a small amount of placental tissue is removed for analysis. Done at between ten and twelve weeks'
gestation, it long represented the preferred form of genetic testing before fifteen weeks. Sex selection for any reason
can occur with these forms of prenatal screening.
In August 2011, the Journal of the American Medical Association reported that a woman can learn of a pregnancy
and the sex of the fetus after as few as seven weeks' gestation with an over-the-counter blood and urine test.
However, the authors point out that tests performed before seven weeks' gestation were unreliable. The widespread
availability and affordability of this new noninvasive test worried some, who feared an increase in sex-selective
abortions, particularly among populations with known gender biases.
Assisted reproductive technology (ART) also advanced significantly in the latter twentieth century and first decade
of the twenty-first century. The year 1978 marked the first successful birth of a "test-tube baby," an infant conceived
through in vitro fertilization (IVF), and the first American test-tube baby was born three years later, in 1981. Since
then, some five million children have been born through ART procedures, according to the European Society of
Human Reproduction and Embryology.
Pre-implantation genetic diagnosis (PGD) was developed in the 1980s and 1990s as a means of testing embryos for
genetic disorders prior to the implantation stage of IVF procedures. Its use in determining the presence or absence of
such genetic disorders as cystic fibrosis and Tay-Sachs eventually led fertility clinics to offer PGD services for
nonmedical reasons beginning in late 2001. Six years later, genetic markers that influence skin, eye, and hair color
in people from Iceland and the Netherlands were identified by Icelandic researchers. The authors of this study point
out that testing for these traits will only provide a certain level of probability that a child will have blond hair or
green eyes, not an absolute guarantee. The authors also state that they "vehemently oppose the use of these
discoveries for tailor-making children." Proponents of sex selection and cosmetic genetics argue that parents should
be allowed such choices as a matter of individual freedom, while critics assert that sex selection reinforces sexist
gender norms and that further cosmetic genetic choices will exacerbate existing societal ills.
Along with using PGD to select embryos for their own individual health came the idea of selecting for children who
could help treat an older sibling affected by a genetically related disorder. The first such tissue-matching child was
conceived in the fall of 2000. In 2004, PGD was first used to select embryos to treat older siblings with disorders
often genetic in origin such as blood or metabolic conditions.
Left to nature, the number of boys born in a given population will slightly outnumber the number of girls. According
to a Guttmacher Policy Review report issued in 2012, China and India have growing disparities in their sex ratios,
particularly in late-order births, meaning those born after the first child. In India, for instance, census records for
1981 showed a ratio of 962 female children for every 1,000 boys; thirty years later, in 2011, the ratio was 914 girls
to every thousand boys. Both China and India have long-standing cultural preferences for sons, and many opponents
of sex selection point to the dramatic shifts in sex ratio in these countries -- and the potential long-term
consequences of these changes -- as a reason to outlaw sex-selection practices. In fact, in the mid-1990s, the PreNatal Diagnostic Techniques Act was implemented in India, making it illegal to identify and disclose the sex of a
fetus. However, it would appear that implementation of this law has not been successful in balancing the sex ratio in
India.
Sex Selection and Cosmetic Genetics Today
Selecting for genetic traits such as fetal sex continues to occur primarily after natural conception. Thus, abortion
remains the dominant means of selection. By 2009, over thirty countries, predominantly in Europe and the AsiaPacific region, had implemented legislation barring social (that is, nonmedical) reasons for sex-selective abortions;
choosing to terminate a pregnancy that may result in a child with a sex-linked disorder is still allowed. A handful of
other nations prohibit sex- selective abortions outright.
Efforts at similar bans in the United States have met with mixed results. Although abortions became legal
nationwide in the United States with the landmark 1973 Supreme Court ruling in Roe v. Wade, the circumstances
under which abortion may be performed, and how it may be performed, remain widely controversial. In 2008,
Arizona congressman Trent Franks sponsored the Susan B. Anthony and Frederick Douglass Prenatal
Nondiscrimination Act (PRENDA), which sought to outlaw sex-selective and race-selective abortions throughout
the United States. He reintroduced the bill in 2011, but it failed to gain a majority in May 2012. (It should be noted
that while sex-selective abortions have been documented in the United States, so-called race-selective abortions
have not.) In light of the lack of federal legislation on the matter, more than a dozen state governments have taken
up measures to prohibit sex-selective abortion within their respective borders. Legislation banning sex-selective
abortions has passed in Arizona, Oklahoma, and Pennsylvania.
Jeffrey Steinberg, owner of Fertility Institutes, stirred up global controversy in 2009 when he announced that his
New York and Los Angeles clinics would not only help prospective parents choose their children's sex, but would
enable them to select embryos for such traits as eye and hair color. In the face of harsh criticism, Steinberg backed
down. Embryonic selection on the basis of such cosmetic preferences is not a known reality in the United States as
of late 2012, although discussion of its potential implications abounds.
Many have speculated that the increasing ease and decreasing cost of genome sequencing could lead to advances in
personalized medicine. In the summer of 2012, researchers at the University of Washington were successful in
sequencing an entire fetal genome for the first time. The breakthrough raised the possibility that an increasing
number of genetic mutations will soon be uncovered in prenatal screening, for good or ill.
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Coauthor
Wendy C. McKinnon graduated from Kenyon College in 1987 with a BA in biology. She went on to earn a master's
degree in genetic counseling from the University of Michigan in 1992 and became certified by the American Board
of Genetic Counseling in 1993. She has been employed by Fletcher Allen Health Care, located in Burlington,
Vermont, since graduation. Ms. McKinnon has provided prenatal, pediatric, and adult genetic counseling over the
years. Her current focus is provision of cancer genetic counseling services and she is the coordinator for the Familial
Cancer Program of the Vermont Cancer Center. Ms. McKinnon is involved in several research projects related to
cancer genetics and has many publications to her credit.
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By CéLeste Codington-Lacerte
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