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

September 4, 2013

Dirk Jan BoerwinkelFEDERA dag October 18, 2013‘Next generation DNA sequencing: impact on clinical care and society’

Faculty of ScienceFreudenthal Institute

for Science and Mathematics Education

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 understandingKolstø, 2001 Scientific literacy for citizenshipRyder, 2002 School science education for citizenship

Changes in genetics

Changes in sciencenew meaning of concepts such as gene and genomenew genetic research instruments and approaches

Changes in societynew applications of genetic technologiesnew ethical questions related to genetics applicationsmany media reports on genetics applications

Genetics education often lags behindFocus on simple (and rare) gene-trait relationsInteraction genome-environment almost absent

Boerwinkel & Waarlo, 2008 Science education in the genomics era

Research question

What constitutes genetics literacy for the 21st century?

Research method

a 3-stage Delphi study

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?’

Experts Number

Science education researchers

26

Developers of educational materials

18

Teachers & teachers’ trainers

8

Science communicators 6

Medical doctors & genetic scientists

8

Educational policy makers 3

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)

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.  

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

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

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

Six situations in which genetic knowledge is needed

1. Participating in a forensic survey2. Testing for risk traits in elite sport3. Buying genetically modified food4. Buying a ‘Direct To Consumer’ genetic test for

BRCA-15. Discussing media headlines on a newly found ‘gene

for alcoholism’6. Participating in a discussion on ethnic (‘racial’)

differences

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)

Cases differ in relevant conceptual knowledge Conceptual knowledge Case on forensic DNA

surveyCase 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

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?

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

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 education3. An educational column in a (Human) Genetics Research Journal

Dirk Jan BoerwinkelFreudenthal Institute for Science and Mathematics Education, Utrecht the Netherlands D.J.Boerwinkel@uu.nl

Anat YardenWeizmann Institute of Science, Rehovot Israel Anat.Yarden@weizmann.ac.il