Defining the genetics literacy that is required by a 21 st century citizen

1. Defining the genetics literacy that is required by a 21st century citizen • 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 Via Invoegen | Koptekst en Voettekst invoegen FIsme | Titel van de presentatie

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 Research methoda 3-stage Delphi study What constitutes genetics literacy for the 21st century?

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?’

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 embryo’s 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 Participating in a forensic survey Testing for risk traits in elite sport Buying genetically modified food Buying a ‘Direct To Consumer’ genetic test for BRCA-1 Discussing media headlines on a newly found ‘gene for alcoholism’ 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

14. Cases also differ in other knowledge types

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

17. Dirk Jan Boerwinkel Freudenthal Institute for Science and Mathematics Education, Utrecht the Netherlands D.J.Boerwinkel@uu.nl Anat Yarden Weizmann Institute of Science, Rehovot Israel Anat.Yarden@weizmann.ac.il