SBI245 Biochemistry Assessment 2 (2013)

SBI245 Biochemistry Assessment 2 (2013):

Single nucleotide polymorphisms (SNPs) are single base pair changes in the genome, some have been associated with disease, others with phenotypical differences. The human genome is around 3 billion bases, with around 1.4 million identified in 2001 (Lander et al., 2001). Since the publication of the human genome the cost has decreased and availability of genome sequencing and genetic testing has improved. Whole genome arrays, SNP chips, next generation sequencing and other technologies allow the general population to access information about their genome. With the increased access to this technology what are the ethical considerations? Your task:

Write a 1000 word article suitable for a lay (non-science specialist) audience. Introduce one SNP associated with disease, outline what the change is and briefly explain why this change causes disease (~100-300 words). Use this example to discuss one ethical issue around the increase availability of personal genome sequencing. Be sure to include: 1) SNP a. Reference b. Description c. Testing d. Treatment 2) Ethics a. Scope and implications clearly articulated b. Provides balanced arguments both for and against viewpoint Resources: http://www.nytimes.com/2012/08/26/health/research/with-rise-of-gene-sequencing-ethical- puzzles.html?pagewanted=all http://www.nature.com/nrg/journal/v9/n2/abs/nrg2302.html http://www.yourgenome.org/ http://www.nature.com/nature/journal/v409/n6822/pdf/409860a0.pdf http://www.nature.com/nature/journal/v409/n6822/full/409822a0.html

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of 7 Lander, E. S., Linton, L. M., Birren, B., Nusbaum, C., Zody, M. C., Baldwin, J., Devon, K., et al. (2001). Initial sequencing and analysis of the human genome. Nature, 409(6822), 860-921. doi:10.1038/35057062

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of 7 Marking process:

Your assignment is due Thursday Week 8 5pm Darwin time, it will be peer marked. During week 9, each student will be responsible for peer marking and providing comments on allocated assignments (~5 other students work). Your ~5 peer marked reports will be returned to you in week 10. You will have until Thursday 5pm of week 11 to revise your assignment, incorporating suggested corrections or changes. Mark allocation:

Mark from peer assessment based on original submission 5% (due Thursday 5pm week 8) Mark for peer assessment of others work 5% (due Thursday 5pm week 9) Instructor marked final submission 10% (due Thursday 5pm week 11) Criteria:

Rubric available at submission portal (included below). Comment:

Students were consulted during the development of the rubric, and provided additional feedback after using the tool. At the end of semester students were invited to contribute their articles to a student publication: Life the University and Biochemistry; SNPs of Our Lives which is now available in the CDU library. If this item is used in the future the weighting for each element will be adjusted so more value is directly attributed to accuracy of content.

Developed by Dr Sheryl Maher

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of 7 Name: Magazine article Description: Used for the evaluation of SBI245 assignment 2 magazine article Type: Used for Grading  Proficient Competent Novice Not yet competent Title Points: Points: Points: Points: .1 (2%) 0 (0%) .05 (1%) 0 (0%) Attention grabbing Informative Relevant Not provided Not misleading or uninformative. Lead Points: Points: Points: Points: sentence/paragraph .15 (3%) .09 (1.8%) 0 (0%) 0 (0%) Introduces the field. Written in Provides some background to the an active manner. Guides the topic. But doesn't guide the reader reader. through the article. Example Points: Points: Points: Points: .75 (15%) .56 (11.25%) .22 (4.5%) 0 (0%) SNP selected is pathogenic or Example presented is pathogenic and a A genetic disorder was used as No example associated with an increased SNP. The example does not flow well an example but not it is not a included. risk of a pathogenic phenotype. with the rest of the article SNP Integrated well into the article. Makes the reader care for the topic.

Document Version: 1.0 Date Published: DD/MM/YY

of 7 Photo choice Points: Points: Points: Points: .5 (10%) 0 (0%) 0 (0%) 0 (0%) – Image selected is relevant Photo selected and caption provided, Image provided is not relevant No image included and informative. Adds value to could be missing source or link to topic to topic presented. the written information. Is presented. Image not referred to in linked to from the text. Citation text or attribution included.

Integration of Points: Points: Points: Points: sources .5 (10%) .3 (6%) .15 (3%) 0 (0%) Information presented is Referencing style other than Article is based mostly on No references or accurate and can readily be Vancouver used. Not all statements opinion and limited references sources mentioned tracked to original sources. are supported with references. Some used Vancouver style used for errors in formatting references Minimal use of personal experience or opinion. Balance Points: Points: Points: Points: .5 (10%) .25 (5%) .15 (3%) 0 (0%) – Equal time (words and One side of the debate is presented in Many points presented with Assignment does number of points) is spent a logical supported manner. little depth or exploration of not address ethical exploring positive and negative consequence considerations. effects. Conventions Points: Points: Points: Points:

of 7 .25 (5%) .15 (3%) .08 (1.5%) 0 (0%) – Spelling, grammar and Presentation does not conform with Spelling and formatting errors presentation conventions are typical magazine standards. Errors in make reading the assignment adhered to. formatting or spelling are minor and difficult. Standard conventions do not detract from readability. are not adhered to. Building conclusions Points: Points: Points: Points: 1 (20%) .6 (12%) .3 (6%) 0 (0%) Paragraphs build on each other Paragraphs link but ideas are not The conclusion appears to towards the conclusion Each always presented logically presented. 'come out of nowhere'. The paragraph has a clear thesis The link between one idea and the paragraphs each present a new sentence. The paragraphs build next is not always apparent. point but are not linked to one towards the conclusion. another. Paragraphs are ordered in a logical manner and are linked to improve readability. Ideas are appropriate and clearly expressed. Audience Points: Points: Points: Points: consideration 1 (20%) .6 (12%) .3 (6%) 0 (0%) The article is appropriately Most of the article is well written and The article would be difficult for pitched at consumers with an enjoyable to read but some parts are someone outside of a science interest in the field – but not overly complex or too simplistic. background to understand as specific biological background. too much specific terminology

of 7 The use of jargon is avoided or or jargon is used. OR The article explained as appropriate. The is pitched at a very basic level article is enjoyable to read and does not respect the readers intelligence. Length Points: Points: Points: Points: .25 (5%) .18 (3.5%) .12 (2.5%) 0 (0%) 1000 words Including title, by 950-1050 words 900-1100 words under 900 words line, text and figure caption or over 1100 words (but not reference list). As measured by word's word count