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Genetics and Society—Educating Scientifically Literate
Citizens: Introduction to the Thematic Issue
Kostas Kampourakis •Thomas A. C. Reydon •George P. Patrinos •
Bruno J. Strasser
Published online: 29 October 2013
ÓSpringer Science+Business Media Dordrecht 2013
1 The Need for Genetics Literacy
Advances in molecular genetics and genomics, and their applications in personalised
medicine and other fields, are raising important socio-scientific issues. If the aim of science
teaching is to educate scientifically literate citizens, the implications of current genetic and
genomic technologies for our lives have to be addressed in science courses. Educational
policies in all industrialized societies consider science literacy as a main goal of education.
The science standards in several European Union member states (Eurydice Network 2011)
and the United States (National Research Council 2012) have stated similar goals. Given
the key role attributed to genes as determinants of human identity, health, and behavior,
genetics is a scientific field about which science literacy is particularly important. With the
wide media attention given to the identification of the genetic basis of human traits and the
increasing availability of direct-to-consumer genetic tests it is important that non-experts
understand what kinds of reliable genetic knowledge can be acquired and what their
implications for society are. Thus, science educators and teachers need to be informed
about the current status of genetics and genomics research, the technological state of the
art, its biomedical applications, and the relevant ethical issues. The contribution of research
scientists to the public understanding of science is important in this respect (Reydon et al.
2012).
K. Kampourakis (&)B. J. Strasser
Biology Section and IUFE, University of Geneva, Geneva, Switzerland
e-mail: Kostas.Kampourakis@unige.ch
B. J. Strasser
e-mail: Bruno.Strasser@unige.ch
T. A. C. Reydon
Institute of Philosophy, Center for Philosophy and Ethics of Science (ZEWW) and Centre for Ethics
and Law in the Life Sciences (CELLS), Leibniz Universita
¨t Hannover, Hannover, Germany
e-mail: reydon@ww.uni-hannover.de
G. P. Patrinos
Department of Pharmacy, School of Health Sciences, University of Patras, Patras, Greece
e-mail: gpatrinos@upatras.gr
123
Sci & Educ (2014) 23:251–258
DOI 10.1007/s11191-013-9659-5
Based on Roberts (2007, pp.729–730), one can identify two core competencies relevant
to instruction aiming at science literacy: (1) understanding science concepts and aspects of
the nature of science (including inquiry and explanatory skills), and (2) engaging in
argumentation and decision making practices about socio-scientific issues. These compe-
tencies represent distinct, but closely interdependent, aims of science education. On one
hand, understanding and using science concepts and explanations is a prerequisite for being
able to argue about socio-scientific issues. For example, knowledge about what stem cells
are and how they can be obtained may affect the moral judgments that people make about
their use in research and therapy.
On the other hand, engaging in argumentation and decision-making practices for socio-
scientific issues provides opportunities to raise new scientific questions and motivate
students to understand the scientific issues with greater depth. For example, students might
argue against a ban on human embryonic stem cell research because of the potential
benefits; or they might argue in support of such a ban because they learned about the
potential of using induced pluripotent stem cells. Because of the centrality of science
content in arguments like these, such engagement in discussions of socio-scientific issues
can promote knowledge and understanding of science content. Like science literacy in
general, then, genetics literacy has two distinct components. One is related to the content
traditionally taught in classrooms (knowledge about DNA, genes, chromosomes, patterns
of inheritance, etc.) and the other to questions that students may encounter as citizens (the
ethical questions related to genetic testing, genetic engineering and genetically modified
organisms for example).
Unfortunately, public understanding of genetics is characterized by serious shortcom-
ings (see Condit 2010, for a review of relevant research). Students’ conceptions mainly
reflect naive genetic determinism, i.e. the view that genes alone can determine the presence
or absence of complex traits. Recent research, however, shows that complex traits result
from the interaction of many genetic, environmental, and behavioral factors with molecular
networks. The contemporary presentation of genetics in schools that teaches students that
genes ‘‘control’’ or ‘‘code for’’ individual characteristics is a misrepresentation of what is
currently known about the effects of the genetic material. Genome-wide association studies
(GWAS), i.e. studies aiming to identify all genetic factors related to health and disease,
have shown that the influence of single genetic factors on disease is small. Even for traits
with strong familial clustering, the most probable candidate genetic variants explain only a
small percentage of the overall inherited risk for a disease (Altshuler et al. 2008; Der-
mitzakis and Clark 2009). Simply finding associations between DNA sequences and dis-
ease risk does not provide clinically useful information. Therefore, scientists’ attention has
now turned towards understanding processes and mechanisms involved in the genetic basis
of diseases, e.g. how genetic and environmental perturbations affect molecular networks
which in turn affect disease (Schadt 2009), the effect of genetic variants and environmental
influences at the level of cells (cellular phenotyping) (Dermitzakis 2012) or what epige-
netic variation contributes to complex phenotypes (Kilpinen and Dermitzakis 2012). A
great proportion of students’ understanding of genetics is thus based on a misrepresentation
of the actual state of genetics research. Why this is the case?
It seems that the content of genetics taught in schools does not accurately represent the
knowledge in the field, and especially the knowledge that is relevant to understand current
socio-scientific issues. Research findings cause concern about the prevalence of outdated
models that enhance mistaken notions of naive genetic determinism, or the view that there
are ‘‘genes for’’ traits (Nelkin and Lindee 2004). On one hand, as a recent study has
revealed, the presentation of genetics in biology textbooks does not take into account the
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complexities of development, and promotes an overly deterministic view of genetics (see
Gericke et al., this issue). On the other hand, as a recent study of teachers’ conceptions of
genetic determinism in several countries has shown, even biology teachers often hold
simplistic (or inaccurate) views such as genetic determinism (see Castera and Clement, this
issue). If outdated models of genetics remain in textbooks and if teachers are not suffi-
ciently familiar with contemporary knowledge of genetics and development, it should be
no surprise that both high school students (e.g. Mills Shaw et al., 2008) and undergraduates
(Smith and Knight 2012) hold deep misconceptions about genetics.
Simple, monogenic, models of cause-effect relationships (e.g. gene-phenotype) are
more easily adopted by students than realistic models in which multiple factors (genes,
gene regulation, cell environment, body environment and external environment) affect the
phenotype (see Jimenez, this issue). Since naive genetic determinism is an important
misconception among students that negatively affects their understanding of genetics and
their engagement in argumentation and decision-making practices, genetics instruction
should develop new kinds of school knowledge that reflect more accurately what genes can
and cannot do by emphasizing the complexities of inheritance (Dougherty 2009). There are
many options: ‘‘genes for’’ concepts might be replaced by more inclusive ones (concepts of
DNA, or genetic material, for example) (Burian and Kampourakis 2013); or classic
Mendelian genetics could be taught not as the norm but as a specific case (Jamieson and
Radick 2013). Textbooks might also be rewritten to be freed from any overly simplistic
deterministic language. But achieving a kind of genetics literacy that will allow citizens of
the 21st century to engage in the growing number of genetics socio-scientific issues will
require coordinated efforts by educators and scientists. This thematic issue is intended as a
first step in that direction.
2 Overview of the Contents of the Thematic Issue
This thematic issue contains contributions from historians and philosophers of science, as
well as science educators. History is especially important in this case as understanding
what happened in the past may be quite enlightening in addressing important issues in the
present. Thus, the first article by Diane Paul, titled ‘‘What Was Wrong with Eugenics?
Conflicting Narratives and Disputed Interpretations’’, explains that understanding what
eugenics was about is useful for addressing contemporary issues relevant to reproductive
genetics (or ‘‘reprogenetics’’). The author thus explains that several very different, and
sometimes diametrically-opposed, morals have been drawn from the history of eugenics.
What is more important is that the history of eugenics cannot simply provide direct
guidance and insights for contemporary debates. A careful study of history shows that
things were more complicated than commonly thought. For example, there were plenty of
racists and reactionaries in the eugenics movements, but even in Germany eugenics also
found support amongst anti-racists and progressives, even prominent Jews, before the Nazi
seizure of power. Or that the ‘‘feebleminded’’ should not be allowed to breed was taken for
granted even by self-declared critics of eugenics. Paul consequently suggests that one
should be careful when using history to develop arguments for contemporary debates. The
lessons of history are not self-evident, historical evidence needs to be carefully interpreted,
and when this is done lessons and counter-lessons can be derived.
In the next article, titled ‘‘The Allusion of the Gene: Misunderstandings of the Concepts
of Heredity and Gene’’, Raphael Falk describes how the concepts ‘‘heredity’’ and partic-
ularly ‘‘gene’’ were used during the twentieth century. The important point to take into
Genetics and Society 253
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account is that different ‘‘gene’’ concepts were used by scientists based on their explan-
atory aims. The gene of classical genetics was different from the gene of molecular
genetics. While it seemed that the advance of molecular genetics would eventually make
possible to structurally individuate genes, it was eventually shown that the concept of
‘‘gene’’ is meaningless outside its cellular context. The author notes that however the
notion of ‘‘genes for’’ traits or ‘‘genes for’’ diseases became quite widespread in the public
discourse on genetics and he explains that this is a simplistic, reductionist perception of
genes which should be avoided. The author concludes that explaining the role of science to
non-experts is also important: science is rather asking questions rather than provides
definite answers.
That understanding the nature of science is important for educating citizens literate in
genetics is argued in detail in the next article by Norman Lederman, Allison Antink and
Stephen Bartos titled ‘‘Nature of Science, Scientific Inquiry, and Socio-scientific Issues
Arising from Genetics: A Pathway to Developing a Scientifically Literate Citizenry’’. The
authors illustrate how teachers can use contemporary Socio-scientific issues to teach stu-
dents about the nature of science but also address the science content which is relevant to
these issues. Taking genetically modified foods, genetic testing and stem cell research as
examples, the authors suggest that a reflective, explicit approach to teaching about the
nature of science and the process of scientific inquiry can be used along with the relevant
socio-scientific issue to improve students’ understandings of these as well as of the relevant
science subject matter. Having acquired sufficient knowledge of subject matter, nature of
science and scientific inquiry students will then be able to make more informed decisions
about important socio-scientific issues.
Understanding the nature of science and the process of scientific inquiry is of course
important, but the articles in this thematic issue mostly focus on knowledge about genetics:
from where it is acquired and how it develops. In their article titled ‘‘Young Children’s
Reasoning About Physical and Behavioural Family Resemblance: Is There a Place for a
Precursor Model of Inheritance?’’ Marida Ergazaki, Aspa Alexaki, Chrysa Papadopoulou
and Marieleni Kalpakiori describe their research aiming at developing an early years’
learning environment about inheritance. To achieve such a learning environment they
investigated what kinds of explanation pre-school children provided for whether and why
offspring share physical and behavioral traits with parents and which mechanism could
better explain the shared physical traits. The authors found that children could not clearly
distinguish between the origin of the physical and behavioral traits. However, based on
their findings they also conclude that the development and implementation of an early
years’ learning environment in the context of inheritance may be possible. Details not-
withstanding, understanding how children think about inheritance and addressing their
intuitive explanations about the relevant phenomena might provide a solid basis for any
future genetics instruction.
Another important question is what influence the public discourse on genetics has on
children’s understanding. Jenny Donovan and Grady Venville, in their article ‘‘Blood and
Bones: The Influence of the Mass Media on Primary Students’ Understandings of Genes
and DNA’’, report findings from their study with elementary school students’ under-
standing of genetics. Previous research had shown that children considered genes and DNA
in a different way and it was supposed that this misunderstanding was due the mass media.
Thus, they examined the media habits and conceptions about genes and DNA of Australian
children. Results indicated that children perceived television to be their main source of
information about genetics, which was mostly about uses of DNA outside the body such as
crime solving or resolving family relationships than about its biological nature and
254 K. Kampourakis et al.
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function. Donovan and Venville conclude that mass media have an influence on children’s
understanding of genetics, and they suggest that instruction about this topic could be
introduced in elementary schools in order for children to understand scientific concepts
before their misconceptions develop.
In the next article, titled ‘‘Young People’s Understandings of Gene Technology: From
Flavr Savr Tomatoes to Stem Cell Therapy’’, Jenny Lewis presents findings from a
research on 14-16 year old students’ knowledge and understanding of basic genetics and
gene technologies, comparing the responses of 482 students in 1995 with those of 154
students in 2011. Students in 2011 overall showed a better understanding of the subject
matter taught, but they had difficulties in developing coherent explanations while holding
misunderstandings and confusions on some topics. Students in 2011 also had greater
awareness of ethical issues and of the factors that should be taken into account before
coming to a decision about socio-scientific issues. Lewis suggests that a genomics cur-
riculum for scientific literacy should be developed. In doing so, it would not be enough to
only think about what kind of content is taught but also how it is taught and how it could be
assessed, with emphasis put on supporting the development of coherent conceptual
frameworks which would enable students to appropriately use their content knowledge.
There are many important factors that influence teaching but classroom practice sug-
gests that textbooks and teachers are the two most important ones. This is the focus of the
next two articles. In the first, titled ‘‘Conceptual Variation or Incoherence? Textbook
Discourse on Genes in Six Countries’’, Niklas Gericke, Mariana Hagberg, Vanessa Santos,
Leyla Oaquim and Charbel El-Hani present and compare previous results of independent
studies on the presentation of genes and gene function in high school textbooks from six
different countries. The authors’ results indicate that a common textbook discourse on
genes and their function exists in the textbooks from the different countries. A very
important finding is that the most frequently models used in the textbooks analyzed are old
ones which promote an often deterministic and mechanistic view of Genetics. Conse-
quently, teachers and students who use these textbooks do not have the opportunity to learn
about the recent developments in our understanding about genes which has been
increasingly challenging genetic determinism. The authors suggest that making students
aware of these developments is important, as it is to make explicit that different gene
concepts are used in different research fields of the life sciences. If this is not achieved,
confusions about genes may persist and have implications for how genes are understood,
usually enhancing notion of strong genetic determinism.
Interestingly enough, such views are even held by biology teachers, as suggested by
Jeremy Castera and Pierre Cle
´ment in their article ‘‘Teachers’ Conceptions About Genetic
Determinism of Human Behaviour: A Survey in 23 Countries’’. In their study of 8,285 in-
service and pre-service teachers from 23 countries that aimed to investigate teachers’
conceptions related to the genetic determinism of human behavior, they found that several
of them hold such conceptions. Teachers relied on genetic determinism to justify intel-
lectual likeness between individuals such as twins or to justify gender differences or the
superiority of some human ethnic groups. Differences were significant between countries,
with such views held by more teachers in, for example, African countries rather than
European countries. Another important finding was that the level of teachers’ training
influences their conceptions, mainly related to genetic determinism about groups, with
innatism decreasing when the level of teacher training increases. This means that sup-
porting teacher training in this domain could have important implications for teaching for
scientific literacy.
Genetics and Society 255
123
In the next article, titled ‘‘Genetics Curriculum and Assessment: The Status of
Instruction for Bioscience Majors in the United States’’, Teresa McElhinny, Michael
Dougherty, Bethany Bowling and Julie Libarkin provide a review of the state of genetics
instruction in the United States, with particular attention to the goals and assessments that
inform curricular practice. Their analysis of syllabi and textbooks indicates that genetics
instruction focuses on the fundamentals of DNA and Mendelian genetics. However, and
interestingly enough, faculty members seem to consider other topics such as the applica-
tions of genetics to society or the environment, as equally or even more important than the
fundamental concepts usually taught. This seems to suggest that teaching aims are not
properly set before curricula are designed. The authors also suggests that before any
curricular revision takes place, broadly applicable, valid, and reliable assessments instru-
ments should be developed in order to measure the efficacy of instruction. Revision of
curricula could then based on the results and conclusions of such measurements.
In the next article, ‘‘Determinism and Underdetermination in Genetics: Implications for
Students’ Engagement in Argumentation and Epistemic Practices’’, Maria Pilar Jime
´nez-
Aleixandre focuses on students’ engagement in epistemic practices or practical episte-
mologies in the context of genetics. The author suggests that in order to support these
practices during genetics instruction, issues about determinism and underdetermination
should be taken into account. She suggests that particular difficulties may be due to the
how causality in genetics is perceived as for example there are no single cause and effect
relationships but often there is correspondence between a set of factors and a range of
potential effects. Thus, in order to support students to be able to understand and evaluate
information related to genetics, reductionism and determinism in genetics are issues that
must be addressed. One way to do this, the author suggests, is to support students in
developing more sophisticated epistemic practices or practical epistemologies in the
context of genetics.
Socio-scientific issues relevant to genetics are also the topic of the article titled ‘‘Re-
framing and Articulating Socio-scientific Classroom Discourses on Genetic Testing from
an STS Perspective’’ by Dirk Jan Boerwinkel, Tsjalling Swierstra and Arend Jan Waarlo.
The authors argue that technology and society are no longer seen as independent entities
but rather as shaping each other, but this notwithstanding public debates on technological
innovations still overemphasize the risks. The authors also suggest that, in the case of
genetic testing, raising awareness of the influences of society on the development, use and
availability of genetic tests is a first step in enhancing student agency; that bringing up for
discussion the influence of technology on morality may help challenge the idea that
technology is constrained by ethics; and that addressing the uncertainty in conclusions
from genetic testing in classroom may be helpful in developing a realistic view of science
and technology and life. These can be achieved through dialogue and participative deci-
sion-making in classroom, which nevertheless raises the demands in terms of teachers’
qualifications. The authors finally state that they are in the process of empirically testing
these suggestions in classrooms.
In the closing article of this special issue, ‘‘The Perfect Storm: Genetic Engineering,
Science, and Ethics’’, Bernard Rollin draws an analogy between discussions on ethical and
social issues regarding genetics and what has come to be called a ‘‘perfect storm’’—a storm
in which a number of causal factors happen to work together in such a way that they
mutually enforce one another and together create a much more forceful storm than would
have occurred under normal circumstances. Rollin identifies six such factors that conspire
to create a societal ‘‘perfect storm’’ in discussions on genetics and genomics: a social
demand for ethical discussion, scientific illiteracy, poor social understanding of ethics, a
256 K. Kampourakis et al.
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‘‘Gresham’s Law for Ethics’’, scientific ideology, and vested interests that dominate ethical
discussion. Especially what Rollins calls ‘‘Gresham’s Law for Ethics’’ is interesting (see
also Rollin, 2006; Reydon et al. 2012). The name of this ‘‘law’’ refers to Thomas Gresham,
a merchant and royal financial advisor in 16th century England. Gresham argued that in
cases in which two types of currency are in circulation, one of which is perceived as solid
and the other is seen as less stable, the latter currency will tend to push the solid currency
out of circulation. After all, driven by fears of devaluation people will tend to hoard the
tokens of the solid currency that they receive and prefer to spend whatever tokens of the
less stable currency they have before taking recourse to spending solid currency. Some-
thing similar, Rollin argues, can happen in public discussions on science and technology,
because new technologies bring us into unexplored ethical territory such that bad argu-
ments may easily displace good arguments. In conjunction with the other factors that
Rollin points to, such as deficient levels of scientific literacy and deficient levels of
understanding of ethical reasoning and ethical positions, ‘‘Gresham’s Law’’ can create a
disastrous situation for public discussions on societal issues that arise with respect to new
technologies, including genetics and genomics. Rollin, however, does not only highlight
this problem, but also discusses what could be done to mitigate it.
3 Outlook
Overall, all the articles outlined above nicely summarize and provide a first introduction to
the various issues that should be addressed in public debates related to genetics, genomics
and their uses in achieving the goals of personalized medicine. Education of healthcare
professionals and raising awareness among the general public about genetics and genomic
medicine are both key issues that, if properly addressed, will catalyze and expedite the
implementation of genomic medicine into mainstream medical practice. But much remains
to be done and we believe that in order to develop fruitful approaches, collaborative and
interdisciplinary work between professionals from various relevant fields is required. This
thematic issue is the produce of such a collaboration.
Elsewhere (Reydon et al. 2012), three of us have already pointed to the various con-
tributions that practicing scientists, science educators and communicators, and historians
and philosophers of science can provide to achieving higher levels of scientific literacy
about genetics and genomics. We will not repeat these points here, but rather close by
highlighting what we believe is the most important issue, namely the need for close,
interdisciplinary collaborations between research scientists, developers of new genetic and
genomic technologies and applications, science educators and communicators, historians
and philosophers of science, and bioethicists. No discipline or field of work will by itself be
able to adequately resolve the problem of scientific literacy, we believe. It is only when the
specific knowledge from all these (and perhaps from still other) fields of work are brought
together that in conjunction they might be able to create a more powerful solution to the
problem than each of these fields will be able to provide by itself. What we envisage is
something similar to the ‘‘perfect storm’’ that Rollin pointed to—albeit that we envisage a
‘‘perfect storm’’ in a positive sense.
Acknowledgments The idea for this issue emerged from the ‘‘Genetics and Society’’ conference that was
held in Athens, Greece, in November 2011. The conference was co-organized by the Golden Helix Institute
of Biomedical Research (http://www.goldenhelix.org) and GEITONAS School (http://geitonas.edu.gr). We
thank Michael Matthews for providing us with the opportunity to work on a thematic journal issue on this
topic. The authors declare no conflicts of interest.
Genetics and Society 257
123
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