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Via Invo egen | Kopt ekst en Voett ekst invoe gen FIsm e | Titel van de prese ntati e 1 Defining the genetics literacy that is required by a 21 st century.

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Presentation on theme: "Via Invo egen | Kopt ekst en Voett ekst invoe gen FIsm e | Titel van de prese ntati e 1 Defining the genetics literacy that is required by a 21 st century."— Presentation transcript:

1 Via Invo egen | Kopt ekst en Voett ekst invoe gen FIsm e | Titel van de prese ntati e 1 Defining the genetics literacy that is required by a 21 st century citizen September 4, 2013 Dirk Jan Boerwinkel FEDERA dag October 18, 2013 Next generation DNA sequencing: impact on clinical care and society Faculty of Science Freudenthal Institute for Science and Mathematics Education

2 Research on the Biology curriculum The Biology curriculum should prepare students for citizenship; this implies a scientific literacy that can be used in decision making, both personal and societal Therefore the curriculum should respond to changes in the interplay of science and society, especially when these changes lead to new kinds of decisions. An important role of Biology Education Research is to study these changes and provide underpinned suggestions for the curriculum Millar,1996 Towards a science curriculum for public understanding Kolstø, 2001 Scientific literacy for citizenship Ryder, 2002 School science education for citizenship

3 Changes in genetics Changes in science new meaning of concepts such as gene and genome new genetic research instruments and approaches Changes in society new applications of genetic technologies new ethical questions related to genetics applications many media reports on genetics applications Genetics education often lags behind Focus on simple (and rare) gene-trait relations Interaction genome-environment almost absent Boerwinkel & Waarlo, 2008 Science education in the genomics era

4 Research question What constitutes genetics literacy for the 21st century? Research method a 3-stage Delphi study

5 Stage 1 Answers of 57 experts to the questions What knowledge of genetics is relevant to those individuals not professionally involved in science? Why is this knowledge relevant? ExpertsNumber Science education researchers 26 Developers of educational materials 18 Teachers & teachers trainers 8 Science communicators 6 Medical doctors & genetic scientists 8 Educational policy makers3

6 Data analysis of Stage 1 Analysis of the answers based on the OECD/PISA framework of competencies required for scientific literacy 3 forms of knowledge: Content knowledge Epistemic knowledge Procedural knowledge OECD, 2013 PISA 2015 DRAFT SCIENCE FRAMEWORK (Programme for International Student Assessment)

7 Content knowledge (knowledge in science) Understanding genetic concepts and relations All cells have the same genetic information but different cells express different genes a change in genes is not necessarily hereditary Traits result from the expression of one or more genes working alone or together, with the environment, often in unpredictable ways Any two people share over 99% of their DNA sequence.

8 Epistemic knowledge (knowledge about science) Understanding how genetic knowledge is achieved and how genetic information is interpreted and used The relative certain conclusions from forensic DNA research and some monogenetic diseases, together with simplified media statements can give the wrong impression that genes determine our fate and provide certainty Uncertainty is an inherent part of science, and there is no final, complete understanding. In genetics, this idea manifests itself in several ways, notably in the concepts of genetic risk and predisposition. The possibility to select embryos in PIGD and modify genetic information raises issues for individuals and society such as gender choice and human enhancement

9 Procedural knowledge (knowledge how to do science) Skills related to the use of genetic information A 10 times higher risk may still be very small In representing research, media leave out most scientific doubt and limitations of the study

10 Research method: stage 2 Workshop with the contributing experts (46 out of 57) Discussing 6 cases in which citizens are confronted with situations where genetic knowledge is needed; formulating the desired genetic literacy in these cases by comparing with the classified knowledge components

11 Six situations in which genetic knowledge is needed 1.Participating in a forensic survey 2.Testing for risk traits in elite sport 3.Buying genetically modified food 4.Buying a Direct To Consumer genetic test for BRCA-1 5.Discussing media headlines on a newly found gene for alcoholism 6.Participating in a discussion on ethnic (racial) differences

12 Choice of cases based on differences in Practice (medical diagnosis, forensics) Gene-trait relation (monogenic/polygenic, role of the environment) Genetic structures (functional genes, STR, SNP) Source of information (media, product information) Type of issue (privacy, ethnicity, health)

13 Cases differ in relevant conceptual knowledge Conceptual knowledge Case on forensic DNA survey Case on DTC BRCA testing A. All organisms have genetic information that is hierarchically organized -- B. The genetic information contains universal instructions that specify protein structure C. Proteins have a central role in the functioning of all living organisms and are the mechanism that connects genes and traits But forensic DNA research does not concern genes But there are no such things as disease genes D. All cells have the same genetic information but different cells use (express) different genes Therefore we can use any cell of the body - E. Organisms reproduce by transferring their genetic information to the next generation And therefore we share this with relatives But somatic mutations are not transferred to the next generation F. There are patterns of correlation between genes and traits and there are certain probabilities with which these patterns occur There is a 50% chance that the BRCA-1 mutation is passed to a son or daughter. Sons can pass the mutation to their daughters G. Changes to the genetic information can cause changes in how we look and function - But there are many different mutations in the same gene H. Environmental factors can interact with our genetic information -So the risk of cancer is also influenced by life style

14 Cases also differ in other knowledge types Case on forensic DNA survey Case on DTC BRCA testing Nature of Science aspects A certain DNA-match is not the same as legal proof BRCA-1 DTC test can only test a limited number of mutations Ethical, Legal and Societal Aspects (ELSA) Who should have access and rights to stored information? Would I participate? Can I be forced? Should DTC testing be regulated? Would I consider such a test? Am I obliged to tell the result in a job interview?

15 Some first examples Structure and functioning of an organism are influenced by the interaction of many genes and many environmental factors during development and life. In rare cases, a variation in one gene is linked to a change in one trait. Humans share 99,5% of their genetic information Genetic differences between people can affect disease risk and susceptibility to substances which makes it relevant to use genetic tests in medical diagnosis and treatment. Other genetic differences are neutral and can be used in personal identification and ancestry studies. Genetic information can be stored and shared digitally

16 Proposed documents in 2014 1.An underpinned formulation of genetic literacy with a caveat that this will have to be adapted regularly in response to new technological developments. 2.A brochure with examples of good practices in education 3.An educational column in a (Human) Genetics Research Journal

17 Dirk Jan Boerwinkel Freudenthal Institute for Science and Mathematics Education, Utrecht the Netherlands Anat Yarden Weizmann Institute of Science, Rehovot Israel

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