Perceptions of health and disease in the context of genetics and genetic diagnostics

Background: Genetics is now recognised as playing a key role in the diagnosis and prevention of many diseases based on early detection. The scientific findings also have an influence on society and the life of the individual (LEMKE, 2006). The educational standards call for these findings to be addressed in lessons and for pupils to be able to critically scrutinise the facts and their social significance. The aim of the work is therefore to develop lessons in which the issues associated with health, genetic disease and genetic diagnostics are appropriately addressed and the ethical implications are made accessible for reflection.

Theoretical reference: Following a moderate constructivist understanding (e.g. DUIT, 1995), learning is understood as an active, multidimensional construction process that is based on prior knowledge and lifeworld perceptions and is influenced by attitudes and can be indirectly influenced by external interventions. The students' lifeworld perceptions are regarded as decisive factors in the learning process. Within the study, changes to these conceptions are understood as modifications, enrichments and differentiations, in line with the revised conceptual change approach (POSNER & STRIKE, 1992).

Research question: The following research question is at the centre of the study: What ideas of health and disease do learners and scientists have in the context of genetics and genetic diagnostics? This overarching question is considered in more detail by the following questions: How do learners and scientists describe health and genetic disease and what causes do they cite? What criteria are used to characterise a person as "healthy" or "ill"? What ideas are expressed about the significance of genes and genetic diagnostics?

Research design and methodology: Following a qualitative, iterative approach, the ideas of pupils from 10th grade secondary schools are collected in problem-centred, guideline-structured individual interviews and systematically compared with scientific ideas from the fields of biology, medicine and sociology. The data is analysed using the MAXqda2™ computer programme and formulated as concepts. Finally, teaching elements will be developed on the basis of a comparison and existing materials on the topic will be discussed.

First results: Data from 8 individual interviews are currently available. The interviews show that pupils have a multi-perspective view of health and illness. To characterise a person as 'healthy' or 'ill', they use both objectifiable biological criteria as well as subjective and social criteria. It can be seen that the severity or the effects of a genetic disease on a person have an influence on the assessment of a disease. The idea of "sick genes", which grow with or in the human body and, as soon as they are large and strong, trigger diseases, is also very central. Within the further evaluation, it should be clarified to what extent the students differentiate between monogenic and multifactorial diseases and how genetic dispositions or "genetic risks" are described and assessed by them.

Preliminary conclusions for the design of lessons

A look at textbooks and teaching materials on the topic of "genetic human diseases" reveals that the topic is primarily considered on a purely scientific-biological level, rather than a purely genetic level. In many cases, external influences (environmental influences) are not addressed at all and subjective or social considerations, which have already become a matter of course in holistic health education (e.g. in the area of addiction prevention), are rarely found in the topic of "genetic diseases".

What does the fact that pupils have a pronounced multi-perspective view of health and illness mean for biology lessons? In some circumstances, the view of health and genetic disease, which is often reduced to biological or genetic aspects in genetics lessons, collides with the pupils' multi-perspective ideas. It therefore seems worthwhile to utilise the students' multi-perspective ideas in the classroom in order to consider the different perspectives on health and illness and to address the diversity of perspectives. The norms expressed in the interviews could provide an opportunity for closer examination and critical reflection. This could primarily involve raising awareness of these norms and differentiating between scientific norms (e.g. norms within everyday medical practice) and social norms.

With regard to ideas about genes and in particular the personification of genes (i.e. the transfer of phenotypic and human characteristics to genes), teaching elements should be developed within the didactic structure in which the chemical structures and effects of genes are worked out. In addition, it could also be fruitful (depending on the class level) to thematise the transfer of human/phenotypical characteristics to genes in class and to critically question its significance.

Literature:

DUIT, R. (1995): On the role of the constructivist perspective in didactic teaching and learning research in the natural sciences. Zeitschrift für Pädagogik 41 (6), 905-923. LEMKE, T. (2006): The police of the genes. Forms and fields of genetic discrimination. Campus Verlag, Frankfurt/Main

POSNER, G.J. & K.A. STRIKE (1992): A Revisionist Theory of Conceptual Change. In: DUSCHL, R.A. & R.J. HAMILTON [Eds:] Philosophy of science, cognitive psychology and educational theory and practice. State University of New York Press, New York, 147-176.

1. Background and Aims

   Today genetics is attributed a key role for the diagnosis of multiple illnesses. The scientific findings in genetics also have an impact on society and the life of the individual (Lemke, 2006). Scientists of different branches of study have stated a paradigm shift in society and the science of health and health education (Stöckel, 2004).
   With the German standards of science education it is demanded to take the findings of modern biology as an instructional theme and to enable students to make a critical study of the scientific facts and their social impacts. The aim is to qualify students to take part in the social communication and to deal responsibly with the chances and problems arising from the development of new genetic technologies. The research therefore aims at developing teaching elements that point out ways for an improved biology education considering scientific as well as social development and leading to a deeper understanding of the conditions of health and disease.
   The main research question is the following: What are the conceptions of health and disease with regard to genetics and genetic diagnostics?
   This main question is examined differentiated by sub-questions: 1) How do learners and scientists describe and explain health and genetic disease? 2) By which criteria is a person characterised as healthy or ill? 3) What are conceptions of the meaning and impact of genes and genetic diagnostics?

2. Framework

   The research follows a moderate constructivist view (i.e. Duit, 1995). Learning is regarded as an active, multidimensional construction process that is based on prior knowledge and everyday conceptions. In addition, learning is supposed to be affected by attitudes and indirectly influenceable by external interventions. Students' conceptions are regarded as crucial factors within the learning process. Changes of conceptions are understood as modifications, enrichments and differentiations according to the revised approach of Conceptual Change (i.e. Posner & Strike, 1992). Besides the moderate constructivist basis implies considering science knowledge as tentative human constructions. The Model of Educational Reconstruction implements the theoretical assumptions and functions as a methodological framework for the study. Students' conceptions are systematically related to scientific conceptions so that mutual relations can be made (Sander et al, 2006). The aim is to find an appropriate basis for teaching that is based on an analysis in which science structure and students' conceptions are discussed as being equally significant parameters.

3. Methods and Samples

   Since the research project deals with modes of understanding, though not with the quantity of conceptions, qualitative methods are applied.
   The method of qualitative content analysis (Mayring, 2000) is applied to the scientific clarification. For the investigation of students' conceptions problem-centred interviews are performed which facilitate a profound analysis of the conceptions. Apart from questions, pictures and ethical case studies are used as interventions. The combination of different kinds of interventions offers the possibility of analysing both descriptive conceptions and normative arguments. Furthermore, it increases the validity of results (Flick, 1992).
   The transcriptions of the interviews are evaluated using the computer-assisted content analysis with MAXqda2™.
   The students being interviewed are aged 15-17 years (10th grade of secondary modern school). At present, the analysis of 8 single interviews is available. Further interviews are planned in order to obtain empirical saturation. As mentioned above the implementation of group discussions is intended to show whether students use different descriptions and explanations in a discussion with other learners.

4. Results

   (The examples only depict a small range of the results. The quotations merely illustrate the conceptions. The interpretation is derived from the entire interviews).

   Description and explanation of health and genetic disease:
   The students describe health and disease in a multi-perspective way while referring to physical, mental and social aspects. Disease is predominantly associated with physical as well as mental constraints. Furthermore, it is linked with apparent outward characteristics like for example a sad face or a handicap. The students distinguish these visible diseases from internal diseases that are not visible from the outside. Genetic diseases are counted among these internal diseases.
   
   Criteria to characterise a person as healthy or ill: Students use both, criteria that refer to the level of genotype and to the level of phenotype. In doing so they apply normative and descriptive criteria to characterise people. In the process genetic diseases are often described as deviation from medical or social standards:
   

   Descriptive criteria: Conceptions of genetic standards: A mutated gene is a little skew and does not look like our standard gene (Heinz, 15). A person with a mutated gene does not have such normal genes, but genes that are not like the others (Karl, 16). Normative criteria:
   Conceptions of social standards: Whether a person with trisomy 21 is healthy or ill depends on the way he behaves. (...) If he behaves normally - - if you visualise how these people behave: they act stupid and do not know what they are supposed to do. But if they are brought up in a way they know what they are supposed to do, if they behave normal- they are not ill (Karl, 16). The role of genes: Genes play a central role in the students' conceptions about diseases and their causes. However, the exact meaning ascribed to the genes varies:
   Transfer of phenotypical characteristics to the genes: The students tend to transfer phenotypical characteristics to the genes. In the context of diseases like Huntington's disease, the disease is often described as a characteristic of the gene. The students clearly distinguish between the genetic level and the outward appearance of a person (phenotype): The gene is not the illness. The gene is ill, but not the person. (Heinz, 15).
   Genes as a carrier and means of transport of a disease: Some students describe genes as carriers and means of transport. The genetic disease is then described like an infectious disease: Genes are the carriers of the disease. It starts with the gene and the disease follows. The gene serves as means of transport for the disease. In the end the disease spreads out. (Karl, 16).
   Genes as growing units: In the conceptions of some students genes are independent units that develop with the body. These students often attribute phenotypical characteristics to the genes, too. The everyday experience that human beings, animals and plants grow is transferred to the genetic level: Genes grow with the body (Susie, 16). At a specific time the gene is tall and ready and then spreads out (Maria, 16).

5. Conclusions and Implications

   The students possess a pluralistic view of health and disease and consult objective, subjective and social criteria to characterise a person as healthy or ill. However, the perusal of German teaching material shows that the topic "human genetic diseases" is often reduced to a biological, even purely genetic level. Outer (environmental) influences on diseases are often not taken as a theme. Social and subjective views on health and disease are very rarely applied to the topic. Biology teachers may take the multidimensional conceptions of students up to examine different perspectives on health and disease. The standards, the students applied to, can be used as an opportunity for closer consideration and critical reflection. A prime concern may be the development of awareness of these often unconscious standards and the distinction between scientific standards and social standards. In matters of the conceptions of genes and particularly the personalisation of genes it may be fruitful to stress the chemical structures and effects of genes. Concerning the conception of genes as independent units it may be conducive for scientific learning to have a closer look at the history of genetics: The geneticist Weismann for example described genes as "living particles". In terms of Conceptual Change the confrontation with obsolete historical and valid scientific conceptions may lead students to an enhancement of their conceptions and to a meaningful scientific view of genes and their impact on human health.

• Mittelsten Scheid, N./ Schwanewedel, J. (2006): Intersexuality - a life between the sexes. In: Teaching Biology 319, 16-21.
  
  
• Schwanewedel, J./ Hößle, C. (2006): Perceptions of health and disease in the context of genetics and new genetic technologies. In: Eighth Spring School of the Biology Didactics Section of the Association of German Biologists, Free University of Berlin, Berlin, 41f. (Abstract)
  
  
• Schwanewedel, J./ Hößle, C. (2006): Perceptions of health and disease in the context of genetics and genetic technologies. In: Lemmermöhle, D./ Bögeholz, S. & Hasselhorn, M. (Eds.): Professionell Lehren- Erfolgreich Lernen. ZeUS, Göttingen, 94 (Abstract)
  
  
• Schwanewedel, J./ Hößle, C. (2006): Conceptions of health and disease in the context of genetics and genetic technologies in: VIth conference of ERIDOB, Institute of Education, London, 137.(Abstract)
  
  
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• Poster presentation at the Eighth Spring School of the Biology Didactics Section of the Association of German Biologists from 24-26 March 2006, Freie Universität Berlin

• Lecture at the 3rd Göttingen Conference of the ZeUS from 04 - 06 September 2006, Georg-August-University Göttingen

• Poster presentation VIth Conference of Eridob (European researchers in didactics of biology), 11-15 September 2006, Institute of Education, London

• WiSe 05/06
  Seminar "Bioethics"
• Summer semester 06
  Seminar "Health Education"
• WiSe 06/07
  Seminar "Current topics in health education in biology lessons"
• Summer semester 07
  Seminar "Evolution as a topic in biology lessons"