Bio-Ethics- To what extent should screening for genetic abnormalities in unborn

babies be allowed?

Can a parent ever know too much about their child? You’d think the obvious answer
would be no, of course the more a parent knows, the safer their child will be. However this is
becoming more questionable as genetic screening tests become more popular amongst
expecting parents.

Genetic screening is a general term for multiple tests used to analyze a fetus’ DNA for
abnormalities or mutations. The original purpose of the tests was so parents can determine if
their child will be born with fatal diseases and/or various disabilities, to help them prepare both
themselves as well as their environment to the fullest extent possible, as well for some the test
results could help in a decision about possibly termination.

However, screenings have developed to the point of being able to make assumptions
on personality and future life of the child; whether they’re extroverted or introverted, if they’ll be
good at school or sports, even their possible sexuality. “What if a test picks up the gene for
albinism? Being an albino is not a disabling medical condition, but it can be a social burden. Is
that enough to terminate pregnancy?”- Arthur Caplan (bioethicist and scientific American
advisory board member). Even I, an adamant pro-choicer, have some difficulty in
understanding the ethical extent of using the screenings to learn about a child. Are some things
better left unknown? Let’s look at the science behind the tests.

Birth defects affect about 3% of babies in the US every year (according to Centres for
Disease Control and Prevention). Most defects occur during the first trimester of pregnancy,
during which the fetus’ organs form. Some genetic defects can lead to fatal diseases,
something I would definitely want to know about and be prepared for when having a child.

In 1977, Y.M Dennis Lo, a chemical pathologist, discovered the fetal DNA in mothers’
veins, which can be tested to determine if the mother’s Rh blood group system (Rh referring to
Rh antigens; stimulates the body to produce antibodies) is incompatible with the fetus,
possibly causing fatal complications.

It can be difficult to distinguish between maternal and fetal DNA and so DNA samples
from both mother and father are taken to analyze 900,000 single-nucleotide polymorphisms.
One letter changes in genetic code reveal differentiating DNA. Researches used this
information to determine that the mother’s blood carries the whole fetal genome, as well as
which DNA came from which parent. Previously, genetic sequencing was too expensive for
clinical use, but recently it’s become increasingly cheaper and therefore more popular.

These tests can be done during the first and second trimester and are only done at the
request of the parents, physicians cannot pressure a family into it. First trimester screenings
are done between 10-13 weeks of the pregnancy. For example, Nuchal Translucency; an
ultrasound examines the back of the fetal neck for abnormal fluid or thickening (can lead to
Down’s Syndrome). A 2nd trimester test is a quad screen, which measures 4 different
substances in mom’s blood (with fetal DNA) which identify Down’s as well as Neural Tube
defects (birth defects of the brain and spinal chord such as Spina Bifida).

The most important thing to know about any genetic screening tests is that they are not
always accurate and do not explicitly whether a child will be born with a birth defect.
Screening tests are meant to evaluate the risk of birth defects based on abnormalities in fetal
DNA. Even if the DNA contains abnormalities, the child could be born healthy. Genetic
mutations are most commonly inherited, meaning a parent carries the mutation- if a parent has
no defects and carries the mutation, their child could be same.

Screening tests are incredibly difficult to interpret and there are not enough doctors
trained to understand the results to satisfy the growing demand for tests. Test results may also
be flat out wrong. Many companies that specialize in screening tests are privately owned and
the data sent out is to inaccurately interpreted by the parents. This is why screening tests
should never be the sole factor in major decisions such as termination of pregnancy.

 “The truth is that when a mutation is detected, except for rare cases, it is very difficult
to determine the risk that individuals develop during their lives. 10%, 20%, 70%?”- Robert C.
Green, Geneticist. An experiment conducted tested 4,000 genes in 100 adults, finding that
18% of them carried a pathogenic mutation without symptoms. Humans have 21,000 genes,
and for any mutation there could be hundreds of other modified genes which compensate or
even cancel out the mutation. Genetics are not only factor in the risk of disease or disability,
environment as well as ethnicity can affect the fetus as well.

After a screening, genetic diagnostic tests can be done which are more accurate
though far riskier. For example, Chorionic Villus Sampling, done at 10-12 weeks. A small tube
is inserted through the mother’s abdomen or vagina and tissue samples containing placental
cells (same DNA as fetus) are withdrawn, which can detect abnormalities. This test has a risk of
miscarriage, a better option being Amniocentesis, where a needle is inserted into the abdomen
to obtain amniotic fluid around the fetus.

Most parents feel that genetic screenings enable them to prepare mentally, physically
and financially for their child.

There are many ethical questions to consider; will the results influence the emotional
connection between parent and child? Do parents have a right to know- and how much?
Does the child have a right to know- is it ok to burden them at a young age with the
information? What about equality of access?- most tests are not insured and most parents
don’t have access.

Hypothetically, genetic screening is meant for parents preparing for a child, but there
are thousands of genes, and while most tests screen for specific abnormalities and diseases,
by screening the entire fetal genome, more information can be discovered than necessary.

Genes can reveal both physical and psychological information; affecting your
personality. Genetics can affect both personality traits as well as things like sexuality.
Technically, assumptions can be made on the fetus’ future based on the genetic interpretation.
Would it be ok to terminate a pregnancy based on not wanting a child who could possibly be
homosexual- does pro-choice extend this far? Genetics can become less scientific and more
of a controversy over social responsibility ethics.

"Children aren't colouring books. You don't get to fill them with your favourite colours.”-
Khaled Hosseini (The Kite Runner). With such extensive information available on the possibility
of who a child turns out to be- are we giving parents the ability to pick and choose who their
kids are? To somewhat have control over their child’s identity, basing termination on whether
they like the statistical information of a fetus’ genetics? A fairly new concept, there aren’t many
laws surrounding genetic discrimination, even companies can request genetic information and
base hiring around that.

This questions even lead to the controversy of parental consent and to what extent is it
more valid than that of the child’s. Questioning the ethics of genetic screening is arguably
questions a parents’ right to their own child, to bring their child up however they choose. In
the most drastic of situations, the two options would be too much legal control, to the point
where there are so many guidelines a parent’s connection with their child is lost. On the other
hand, if a parent has too much control they could more or less dictate exactly who their child
is, essentially removing their right to be their own person.

I think that too little and too much information could be a problem for expecting
parents. However, since we’re discussing ethical controversies, as someone who is neither a
geneticist or an expecting mother, how can I fully understand the emotional and scientific
aspects of genetic screening? As an outsider, it would be unethical of me to carry any weight
in this discussion.

That being said, in my opinion, genetic screening is not explicitly good or bad. My
response is that choice matters, that genetic screenings should remain accessible, that
parents have a right to information (if they choose to know it). However, I think it’s necessary to
have more guidelines surrounding the topic. Genetic screenings have only become prevalent
in society recently and are not yet properly regulated. I think comprehensive policies on
prenatal whole-genome testing should be made. Parents should receive information only after
filtered by genetic councillors, ensuring parents don’t have control over their child’s identity, as
well as ensuring a proper interpretation of the data. There should be more geneticists to meet
the demand for screenings. I also feel that parents leaning towards abortion after seeing
screening results should be made to have genetic diagnosis as well so that they can make an
education decision.

To summarize, Genetic screenings should be used to educate and prepare parents for
their child, not as the sole factor in a decision about abortion. It also needs to be emphasized
that the results are not always accurate and that a risk is different than an 100% for sure
answer.

Sources:

What do the new 'gay genes' tell us about sexual orientation? (n.d.). Retrieved April 17, 2018, from
https://www.newscientist.com/article/2155810-what-do-the-new-gay-genes-tell-us-about-sexual-
orientation/

How Much of Your Personality is Genetic? (2018, January 16). Retrieved April 17, 2018, from https://
www.scienceofpeople.com/much-personality-genetic/

The Kite Runner - The Kite Runner - Quote from Chapter 3 (showing 1-12 of 12). (n.d.). Retrieved April
17, 2018, from https://www.goodreads.com/topic/show/1646036-the-kite-runner---quote-from-chapter-3

LeslieDec, M., PennisiApr, E., MervisApr, J., VogelApr, G., & PriceApr, M. (2017, December 10). Fetal
DNA Sequenced From Mother's Blood. Retrieved April 17, 2018, from http://www.sciencemag.org/news/
2010/12/fetal-dna-sequenced-mothers-blood

Fetal Genome Screening Could Prove Tragic. (n.d.). Retrieved April 17, 2018, from https://
www.scientificamerican.com/article/fetal-genome-screening-could-prove-tragic/

Nierenberg, C. (2018, March 14). Prenatal Genetic Screening Tests: Benefits & Risks. Retrieved April 17,
2018, from https://www.livescience.com/45949-prenatal-genetic-testing.html

Pfersdorff, D. A. (2017, October 04). Tests génétiques chez les bébés : Dépistage pour qui ? ~ Pediatre
Online. Retrieved April 17, 2018, from http://www.pediatre-online.fr/environnement/tests-genetiques/

(n.d.). Retrieved April 17, 2018, from https://www.health.gov.il/French/Topics/Genetics/checks/

screening-genes/Pages/default.aspx

Lire l'avenir de b. (n.d.). Retrieved April 17, 2018, from http://www.quebecscience.qc.ca/reportage_qs/

Lire-avenir-de-bebe-dans-ses-genes