GENOME GENERATION Cardbased discussion activity NAME THE PICTURE

GENOME GENERATION Card-based discussion activity

NAME THE PICTURE

DNA

Chromosom es

Nucleosome • a section of DNA that is wrapped around a core of proteins

Video: Zoom in on your genome

WHAT IS DNA? • Deoxyribonucleic acid • A long molecule that encodes our genetic instructions • 2 strands twisted together into double helix shape • Made up of specific sequences of bases

THE DNA CODE A C G T adenine , cytosine , guanine , thymine Base pairs: A-T C-G

WHAT IS A GENE? Coding DNA Non-coding DNA • Each chromosome contains genes • The human genome contains ~ 20, 00025, 000 genes Protein • A length of DNA that contains the code to make a molecule in your body

WHAT IS A GENOME • An organism's complete set of DNA • Contains all the information needed to build and maintain that organism • We have 2 copies of our genome packaged in 23 pairs of chromosomes (inherited from parents) • The Human Genome Project: work out sequence of bases in the DNA code of humans more than 3 billion base pairs!!

GENETIC VARIATION G A C T A G C T G A T C G A C T A T C T G A T C • Mutation: a permanent change in the DNA sequence • May occur within a gene and change protein produced or switch genes on/off • Single letter, reversal, insertion, deletion, duplication. .

SEQUENCING TECHNOLOGY - Sequencing technology is advancing rapidly. - 10 000 x cheaper in 2011 than in 2001 - Within 10 years DNA sequencing could become part of routine medical screening. - Commercially available personal genotyping tests are already available online (~$200) Illumina Flow Cell used in Sequencing

WHAT IS GENOTYPING? - Involves looking at particular regions of the genome that are known to vary between individuals. - Information from genotyping can indicate: • disease risk • drug responsiveness • carrier status for disease • personal traits such as eye colour

WHAT IS GENOME SEQUENCING? - Genome sequencing involves finding out the whole sequence of a person’s DNA. - Commercially available personal genome sequencing currently costs between $8000 $20 000.

GENES VS ENVIRONMENT - A predisposition means that people with a particular genotype tend to have an increased risk of developing a disease. - Lifestyle plays a significant role in increasing or decreasing the risk of developing some diseases. Environment Infectious Disease Obesity Type 2 Diabetes Genes Monogenic

GENOME GENERATION

STORY CARDS

INFO CARDS How m alon uch ca e re n ally genet i tell you cs ? s k factor s i r e h t e What ar rt disease? for hea W rma hat is cog eno mic s? pha Wha d medicines e s li a n o rs e p Are e future? the drugs of th The gene tics About the risk gene Apo. E-e 4 What i of br east renia? izoph t is sch s flucl canc er oxacil lin?

ISSUE CARDS But, what if… ? Is it right that…? Wha t wo uld y o u do …? b Is it Who How shou ld kn ow… ? wou ld yo now k o t r ette u fee l…?

TIMES FOR DISCUSSION ACTIVITY TIME ACTIVITY 3 minutes Read Story Cards in your small groups and begin discussions around questions. 3 minutes Read Info Cards in your groups and continue discussions. Have your opinions changed as a result of this new information? 4 minutes Read Issue Cards and discuss as a group your thoughts on the issue/question. Have your top 2 issues written down. 5 minutes One speaker from each group shares with the class what they talked about and what their top 2 issues are. Groups may choose to respond to or add to other groups’ thoughts.

DISCUSSION (10 min) - Decide what are the two top issues that come out of the scenario. It’s up to your group to decide how you choose them. - E. g. you may want to choose 1 issue that everyone agrees on, and 1 issue that is most controversial. Or you may want to choose 2 issues your group thinks are the most significant ethically or socially, and rank them in order of importance. - In each group, designate one person to be the recorder (note-taker throughout the discussion) and one person to be the speaker/presenter. You may keep the same roles throughout or you can switch it up each discussion round. - Record your two top issues on the handout provided as they will be used in the class sharing session.

DISCUSSION GUIDELINES - Speak for yourself and not for others. - Allow others to finish before you speak. Listen well. - Ask questions as well as making statements. - Explain what you think and feel. - Respect differences in opinion. Find where you agree. - Share your life experiences and knowledge – it is valuable.

GET INTO GROUPS - Form small groups and sit together - Push tables together so that you are sitting facing each other and better able to facilitate group discussions

JILL AND SCHIZOPHRENIA RISK This scenario is set in the future and assumes that people will be able to find out this information through a recreational genotyping kit. - Summary: A woman (Jill) who has no knowledge of her father’s family history. She has a husband a young baby and pays to be genotyped to get a better understanding of her genetics. She does not know that the test will reveal that she has a rare chromosome deletion, associated with a higher than normal risk of developing schizophrenia. Initial question: If you were Jill would you want to know that you have an increased risk of schizophrenia?

SHOULD RESEARCHERS SHARE INCIDENTAL FINDINGS? This scenario is set in the present day. Summary: A researcher (Lin) is working on a study into childhood developmental disorders. She discovers that one of the children in the study has a mutation associated with the cancer retinoblastoma. The study has a strict policy not to share incidental findings with participants. The group has to decide whether Lin should tell the child’s parents. Initial question: Should Lin share the results with the participant’s parents?

HEATHER, HER RISK FOR ALZHEIMER’S AND HER RELUCTANT TWIN Set in the future, recreational genotyping has become commonplace. Summary: A young woman (Heather) has an identical twin. Heather wishes to start a family with her husband has decided to get herself genotyped. Her twin objects to the test and does not wish to know the results. The results show that the twins are carriers of two copies of the gene variant Apo. E-e 4, which puts them at high risk of developing Alzheimer’s disease. The group has to decide whether Heather should tell her sister or parents about the results. Initial question: Who should Heather tell about her results?

PETE’S POTENTIAL ADVERSE DRUG REACTION This scenario is set in the future. A test for the genes linked to this drug reaction does currently exist, but is not currently widely available to patients. Initial question: Should Pete take the test? Summary: Pete’s doctor would like to prescribe the antibiotic flucloxacillin, since it is particularly effective for his type of infection. However, in rare cases flucloxacillin cause a serious liver injury, and Pete is offered a test to determine whether he has a particular genotype associated with this severe reaction. Pete is concerned about the cost but his wife is keen for him to take the safe option. His teenage son is concerned about misuse of the data if it becomes part of his medical records. The group has to decide whether Pete should take the test.