Looking for Ms or Mr Gene Right: Premarital Genetic Screening
Adapted from Gil Siegal http://www.actionbioscience.org/genomic/siegal.html?print
Should you consider genetic fitness as a partner?
Should your choice of spouse be left solely to your heart, or should the choice incorporate genetic compatibility?
Obviously, if one is to regard marriage (or any other equivalent arrangement such as cohabitation) as a joint decision
to share your life with someone you love, incorporating genetic criteria might seem rather troubling, if not
inappropriate. But, on the other hand, if you hold the view that the main reason for your union is procreation, then
worrying about genetic compatibility and avoiding inheritance of devastating genetic diseases becomes a serious
consideration. Identifying the genetic cause of a disease or susceptibility should imply the ability to act upon this
knowledge by informing partners, treatment, and reproductive choices.
Genetic Disease Transmission.
With respect to genetic diseases, dominant genes will
display phenotypically. Because most dominant genetic
diseases incapacitate the individual before reproductive
age, parent-to-child transmission is a nonissue.
However, recessive genetic diseases are another issue
altogether, as a heterozygote carrier (having two
different alleles) of a recessive genetic disease is usually
asymptomatic. Only when both parents are
heterozygous for the same condition is there a 25
percent risk, for every pregnancy, that their offspring
might receive both recessive genes and express the
disease phenotype (See Figure 1). This latter possibility
is the thrust for creating premarital genetic screening
programs, which arose as a solution for communities
struggling to cope with high incidence of recessive
genetic diseases . (X-linked recessive disorders, caused
by mutations in genes on the X chromosome, are not
subject to premarital genetic screening.)
Figure 1
Sometimes this combination is lethal.
In some populations, the likelihood of two heterozygous individuals with a devastating genetic condition mating is
very high. Since carriers usually don’t display the phenotype, the only risk to them is that they might conceive a child
with a partner who is also a carrier. If the genetic condition is a lethal one (e.g., Tay-Sachs disease), or seriously
debilitating (e.g., Sickle Cell Anemia), one might wish to engage in preventive measures. Of course, one could remain
in ignorance with respect to his/her own carrier status and hope that the risk does not materialize, but there are
better options.
What are the options?
Prenatal Testing: One could resort to prenatal testing (e.g., amniocentesis). However, because a fetus already exists
the options are limited: a couple can either carry the baby to term and prepare for a poor outcome, or they can
terminate the pregnancy. It should be noted that abortions which carry certain risks to the mother (physical as well
as psychological) are also fraught with moral issues. In some societies or subpopulations, abortions are strictly
prohibited.
Screen the embryo: It is now possible to examine embryos prior to gestation in a procedure, called pregestational
diagnosis, in which DNA from a cell of the developing blastomere is screened. The blastomere is then implanted in
the mother’s womb if it doesn’t bear the suspected gene for which it is tested. However, this procedure is still being
developed, is expensive and, above all, necessitates in vitro fertilization which has associated risks and substantial
costs.
Premarital genetic tests: One way to avoid these problems altogether is by performing premarital genetic testing
(PGT) and informing prospective spouses about their carrier status, allowing potential partners who are both carriers
of a particular recessive trait the option not to marry or not to procreate. Several PGT programs have been instituted
around the globe. The two most cited are the Dor Yeshorim (DY)3,4 Program and the Cyprus Thalassemia Screening
Project. Although their means of operation are different, as are their outcomes, these programs share the same
goals: 1) abolishing particular autosomal recessive diseases through a comprehensive testing program; 2) targeting a
given population in its entirety; 3) supporting societies where abortions are regarded as highly undesirable.
Example 1: Dor Yeshorim The DY program screens young adolescents for a panel of 10 recessive diseases that are
lethal or severely debilitating, including Tay-Sachs disease, cystic fibrosis, and Fanconi anemia.3 Most of these
genetic screenings takes place in high schools or religious academies. If one is to fully appreciate the DY program, it is
important to understand 4 important facts about this population:




Due to the Founder Effect, some recessive genetic diseases such as Tay-Sachs are prevalent among
Ashkenazi Jews (those originating from the Western and Eastern Europe).
Ashkenazi Jews make up more than 80 percent of world Jewry.
Arranged marriages are the norm with this group.
In Jewish communities, secular as well as orthodox, reproduction represents a most significant social and
religious obligation. As a result, the utilization of scientific technology in general, and genetics in particular,
in the process of procreation is regarded favorably.5 Additionally, as abortions are seriously objectionable in
Judaic ethics, a preference for prevention over termination of pregnancy is clear.
Each tested individual receives a coded identification (ID) number. When a proposed match is being considered, both
individuals’ IDs are checked in the DY database. The only result that the tested individuals receive is either
“advisable” or “nonadvisable” for marriage. They do not receive their specific carrier status, neither at the time of the
examination nor at the time of a match test. In this way, most carriers never find out what gene they carry and
thereby avoid being seen as defective or damaged. Couples can still get married, but the overwhelming majority do
not. Stigmatization of individuals and their families is avoided by maintaining strict confidentiality in regard to carrier
status. The DY program is regarded as a huge success: virtually no afflicted children have been born.3
Example 2: Cyprus thalassemia screening project In Cyprus, 1 in 7 is a carrier of thalassemia, a group of blood
disorders resulting in severe anemia. The treatment of afflicted individuals requires blood transfusion and expensive
medication or procedures (e.g., bone marrow transplantation).9 Without intervention, the costs to Cyprus would
have bankrupted the country.
This fate was prevented by a national program of PGT, set in motion in the 1970s. Individuals who wish to marry
must present documentation of thalassemia screening to obtain a marriage license. Upon testing, individuals learn
their carrier status. If carriers decide to marry, couples agree to prenatal diagnosis (mainly amniocentesis) and
abortion of embryos diagnosed with thalassemia. To complement this social transformation, the Orthodox Church of
Cyprus has adopted a lenient approach regarding abortion of afflicted embryos, though not without criticism from
abroad. Here again, the overall success of the program is impressive, with near zero births of afflicted newborns.10
Will these programs work in the United States and elsewhere?
Prenatal screening is routinely offered in most countries today. Some couples choose to abort embryos with lethal or
severely debilitating diseases. Abortions are not risk- or cost-free, and in light of PGT-demonstrated successes, the
question arises as to whether PGT can be instituted. Indeed, the social, legal, and ethical challenges are not simple.
Most westerners do not engage in matchmaking, and creating a system for secure predating genetic scrutiny, as in
the case of DY, would seem to be unacceptable and not feasible. Yet, some point to the growing acceptance of HIV
testing as a prerequisite for serious dating in the United States as an example of a possible change of attitude.
As PGT programs became accepted practices, either by requiring a proof of testing in Cyprus or by the inability to
participate in matchmaking in the ultra-orthodox Jewish community, the individual seems to have lost the freedom
to choose whether to be tested or not. Such curtailments of individual freedom are a hard sell in the United States
and some other Western countries.
Indeed, PGT may create a new concept of genetic identity. In Cyprus, individual carriers also bear the burden of
knowing their own genetic risk and are expected either to avoid marriage (which doesn’t usually happen) or to have
an abortion if necessary. People tested by DY assume only the responsibility to make a genetically responsible
decision with regard to their future spouse. They are not informed of their particular carrier status, as it lacks any
relevance unless matched with another carrier. This creates a “genetic couplehood”6 that, in turn, is a stark contrast
to an individualistic notion of one’s genetic makeup—you are only part of a larger genetic identity. This could be a
major leap for Western and American cultures, where accentuated individualism prevails.
In summary, it would be safe to speculate that in the United States and some other Western nations widespread
premarital genetic testing is not around the corner. However, one can envision a future of genetic inquiry that is
evidence-based and focused on population-specific diseases. The transformation to large-scale initiatives or the
creation of a public health initiative could create substantial resistance. To this end, resolutions with respect to the
public’s genetic and health education, data management and protection, and genetic testing are all needed.
References
1. N.S. Green, et al. 2006. Newborn screening: Complexities in universal genetic testing. Am J Public Health 96: 1955-59.
2. Nuffield Council on Bioethics. 2006. Genetic screening: A supplement to the 1993 report by the Nuffield Council on
Bioethics. http://www.nuffieldbioethics.org/fileLibrary/pdf/GeneticScreening-aSupplementtothe1993Report_(2006).pdf
(accessed Jun. 14, 2007) 9/13/2010 Link no longer available.
3. Ekstein, J., and H. Katzenstein. 2001. The Dor Yeshorim story: Community-based carrier screening for Tay-Sachs disease.
Advances in Genetics 44: 297-310.
4. Barlow-Stewart, K, L. Burnett, A. Proos, V. Howell, F. Huq, R. Lazarus, and H. Aizenberg. 2003. A genetic screening
programme for Tay-Sachs disease and cystic fibrosis for Australian Jewish high school students. J Med Genet 40:e45.
http://www.jmedgenet.com/cgi/content/full/40/4/e45 (accessed Jun. 14, 2007)
5. Barilan, Y.M., and G. Siegal. 2005. The stem cell debate: A Jewish perspective on human dignity, human creativity and
inter-religious dialogues. In W. Bender, C. Hauskeller, A. Manzei (eds). Crossing Borders: Cultural, Political and Religious
Differences Concerning Stem Cell Research. Münster, Germany: Agenda Verlag.
6. Prainsack, B., and G. Siegal. 2006. The rise of genetic couplehood? A comparative view of premarital genetic screening.
BioSocieties 1: 17-36.
7. Samavat, A., and B. Modell. 2004. Iranian national thalassemia screening programme. British Medical Journal 329: 11341137.
8. Najmabadi, H., et al. 2006. Fourteen-year experience of prenatal diagnosis of thalassemia in Iran. Community Genetics
9: 93-97.
9. Weatherall, D.J., and J.B. Clegg. 1996. Thalassemia: A global public health problem. Nature Medicine 2(8): 847-849.
10. Cao, A., M.C. Rosatelli, G. Monni, and R. Alanello. 2002. Screening of thalassemia: A model of success. Obstetrics and
Gynecology Clinics of North America 29: 305-328.
(This article was heavily edited and altered for clarity and utility with the CIS Model by Troy Suarez. Please refer to the original
article for reference http://www.actionbioscience.org/genomic/siegal.html?print. This article has a 1280L; 13.3 Grade level;
1,412 words). © 2007, American Institute of Biological Sciences. Educators have permission to reprint articles for classroom use;
please contact editor@actionbioscience.org for reprint permission. See reprint policy.
Gil Siegal, LLB, MD, is director of the Center for Health Law and Bioethics at Ono Academic College in Israel and a senior
researcher at the Gertner Institute for Health Policy. He serves as an adjunct lecturer at Hebrew University and Bar-Ilan
University law schools. During 2003 and 2004, Siegal was a fellow in health policy and ethics at the University of Virginia School
of Law, where he also taught comparative health law, and in 2004 and 2005 he served as a fellow in medical ethics at Harvard
University Medical School. Siegal’s scholarly interests include health law, genetics and biotechnology, organ transplantation, and
bioethics.
CIS Unit
Looking for Ms or Mr Gene Right: Premarital Genetic
Screening
(9th and 10th grade Biology)
 SC.912.L.16.1 Use Mendel's laws of segregation and independent
assortment to analyze patterns of inheritance.
 SC.912.L.16.2 Discuss observed inheritance patterns caused by
various modes of inheritance, including dominant, recessive,
codominant, sex-linked, polygenic, and multiple alleles.
 HE.912.C.1.4 Analyze how heredity and family history can impact
personal health.
CIS Lesson
Looking for Ms or Mr Gene Right: Premarital Genetic Screening
1. Alexandria - Sickle Cell Disease - https://www.youtube.com/watch?v=2CsgXHdWqVs
(download file from resource page)
2. Question #1
Predict why some communities restrict who one can marry based on genetic testing.
3.
Distribute article to students.
4. Pre-teach vocabulary
a. Genetic fitness
b. Cohabitation
c. Procreation
d. Ailment
e. Gestation
f. Blastomere
g. Afflicted
h. Debilitating
i. Speculate
5. Text-marking
P = Problem
S = Solution
6. Question #2
In a paragraph, explain why some communities restrict who one can marry based on genetic
testing. Be sure to include an explanation of the underlying genetics that support this practice.
7. Note-taking
What are the benefits and risks of premarital genetic testing?
8. Vote – see voting page for ideas to promote discussion.
Should your choice of mate be determined, in part, by premarital genetic testing?
Individual
Group
Recount Individual
Yes
No
9. A representative from each group presents an argument.
10. Question #3
According to the text and your discussion, should your choice of mate be determined, in part, by
premarital genetic testing? In your answer, discuss how Mendel’s patterns of inheritance support
your answer.
#1 Predict why some communities restrict who one can marry based on genetic testing.
#2 In a paragraph, explain why some communities restrict who one can marry based on genetic
testing. Be sure to include an explanation of the underlying genetics that support this practice.
Directed Note-Taking
Directions: Record notes containing the most important information relevant to the guiding question.
Looking for Ms or Mr Gene Right: Premarital Genetic Screening
(Text is handout)
Guiding Question: What are the benefits and risks of premarital genetic testing?
Check Relevant Categories
Page/
Paragraph#
Notes
Collaborative Work:
After completing your chart, be prepared to compare your notes with others.
Benefit
Risk
Question Generator
Directions: Go back through the text and find words, phrases or statements that create questions in your mind.
Discuss these questions in your group, and then document your group’s questions below.
Looking for Ms or Mr Gene Right: Premarital Genetic Screening
(Do any of your questions relate to the following categories?)
Page/
Paragraph#
Questions
Collaborative Work:
After completing your chart, be prepared to compare your notes with others.
Benefit
Risk
Directions: Write your answer to the question using information you learned in this unit. You must
organize your position with a thesis statement that is supported in your body paragraphs with evidence
from the text. Feel free to bring in additional research from other sources. Be sure to cite those
sources! Your formal argument must include four or more paragraphs with a clear beginning, middle, and
end.
#3 According to the text and your discussion, should your choice of mate be determined, in part, by
premarital genetic testing? In your answer, discuss how Mendel’s patterns of inheritance support your answer.
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