c. mulligan, copyright 2011 all rights reserved bioethics in daily life day 3 ant 4930 prof. connie...

C. Mulligan, Copyright 2011All rights reserved

Bioethics in Daily LifeBioethics in Daily Life

Day 3Day 3

ANT 4930ANT 4930

Prof. Connie J. MulliganProf. Connie J. Mulligan

Department of AnthropologyDepartment of Anthropology

C. Mulligan, Copyright 2011

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This week – Genetic screening/genetic This week – Genetic screening/genetic testing and ancestry estimationtesting and ancestry estimation

• Prenatal screeningPrenatal screening• Testing for personality, mate choice, etcTesting for personality, mate choice, etc• Genetic ancestry testingGenetic ancestry testing• Reproductive technologiesReproductive technologies

– Who is the mother when egg and sperm are donated?Who is the mother when egg and sperm are donated?

• Required reading (also listed on course webpage, Day 3)Required reading (also listed on course webpage, Day 3)– http://www.newsweek.com/2010/06/09/inside-information.print.html - Newsweek article, Americans want http://www.newsweek.com/2010/06/09/inside-information.print.html - Newsweek article, Americans want

to know their genetic codesto know their genetic codes– http://www.technologyreview.com/blog/editors/25297/ - Genetic testing can change behaviorhttp://www.technologyreview.com/blog/editors/25297/ - Genetic testing can change behavior– http://www.nature.com/ng/journal/v42/n10/pdf/ng1010-811.pdf - newborn genetic screeninghttp://www.nature.com/ng/journal/v42/n10/pdf/ng1010-811.pdf - newborn genetic screening– http://www.nature.com/nature/journal/v466/n7308/pdf/466816a.pdf - Nature, Aug 12 2010, Genetic testing http://www.nature.com/nature/journal/v466/n7308/pdf/466816a.pdf - Nature, Aug 12 2010, Genetic testing

regulationregulation– http://www.time.com/time/magazine/article/0,9171,1158968-2,00.html – Iceland genetics projecthttp://www.time.com/time/magazine/article/0,9171,1158968-2,00.html – Iceland genetics project– http://www.medicalnewstoday.com/articles/157335.php - Iceland/deCODE project - genes identified to datehttp://www.medicalnewstoday.com/articles/157335.php - Iceland/deCODE project - genes identified to date– Skim Skim http://http://bioethics.georgetown.edu/pcbe/reports/beyondtherapybioethics.georgetown.edu/pcbe/reports/beyondtherapy// - Beyond Therapy: Biotechnology and - Beyond Therapy: Biotechnology and

the Pursuit of Happiness, report from the President’s Council on Bioethics, 2003 (353 pages)the Pursuit of Happiness, report from the President’s Council on Bioethics, 2003 (353 pages)

• Video – African American LivesVideo – African American Lives

• Four oral presentationsFour oral presentations


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Next week – Genetic Next week – Genetic screening/genetic enhancementscreening/genetic enhancement

• EugenicsEugenics• Designer babiesDesigner babies

• Required reading (also listed on course webpage, Day 3)Required reading (also listed on course webpage, Day 3)– Bioethics at the Movies (BAM)Bioethics at the Movies (BAM)

• ChptChpt 5 (“No Gene for Fate?”: Luck, Harm, and Justice in 5 (“No Gene for Fate?”: Luck, Harm, and Justice in GattacaGattaca))• ChptChpt

6 (Lifting the Genetic Veil of Ignorance: Is there anything really unjust about 6 (Lifting the Genetic Veil of Ignorance: Is there anything really unjust about GattacanGattacan society?) society?)

– http://www.scientificamerican.com/article.cfm?id=regulate-designer-babieshttp://www.scientificamerican.com/article.cfm?id=regulate-designer-babies – Scientific American article on the need to regulate ‘designer babies’ – Scientific American article on the need to regulate ‘designer babies’

– http://en.wikipedia.org/wiki/Eugenicshttp://en.wikipedia.org/wiki/Eugenics - Wikipedia entry on eugenics - Wikipedia entry on eugenics

• Video – GATTACAVideo – GATTACA

• Four oral presentationsFour oral presentations


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Group projectsGroup projects• Group projects (10 per semester, 10 points per project, same grade Group projects (10 per semester, 10 points per project, same grade

for entire group):for entire group):• Suggestions for successful group projects:Suggestions for successful group projects:

– Limit yourselves to one main pointLimit yourselves to one main point, or at the most two related points, to be , or at the most two related points, to be included in your projects. Resist the impulse to include all information included in your projects. Resist the impulse to include all information relevant to your topic. Instead choose the one, or two, pieces of information relevant to your topic. Instead choose the one, or two, pieces of information that best support or explain your point.that best support or explain your point.

– I think 5 minutes is sufficient time for the sort of projects and presentations I I think 5 minutes is sufficient time for the sort of projects and presentations I have in mind. Thus, have in mind. Thus, I am modifying the original description of 5-10 min I am modifying the original description of 5-10 min presentations to 5 min presentationspresentations to 5 min presentations..

• Grading criteria:Grading criteria:– Explicit statement of question or problem – Explicit statement of question or problem – 2 points2 points– Explicit statement of answer or position – Explicit statement of answer or position – 2 points2 points– Inclusion of scientific information to support your point – Inclusion of scientific information to support your point – 2 points2 points– Clear evidence of critical thinking in presentation of your position – Clear evidence of critical thinking in presentation of your position – 2 points2 points– Use of visual aids to enliven project/talk – Use of visual aids to enliven project/talk – 1 point1 point– Proper citation of sources – Proper citation of sources – 1 point1 point


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Oral presentationsOral presentations• Oral presentations (4 per semester, 25 points per presentation, Oral presentations (4 per semester, 25 points per presentation,

individual grade for presenter):individual grade for presenter):• Suggestions for successful oral presentations:Suggestions for successful oral presentations:

– Practice the entire presentation. Practice more than once. It’s only 5 min so it Practice the entire presentation. Practice more than once. It’s only 5 min so it doesn’t take that much time to practice it. You may think that your doesn’t take that much time to practice it. You may think that your presentation will be better if it is ‘fresh’, ad libbed, extemporized, etc, but you presentation will be better if it is ‘fresh’, ad libbed, extemporized, etc, but you would be wrong. Nothing beats a talk that is smooth and polished. Practicing would be wrong. Nothing beats a talk that is smooth and polished. Practicing makes you work on your wording for each slide. Practicing also forces you makes you work on your wording for each slide. Practicing also forces you to think about how much time you spend on each slide and each bit of to think about how much time you spend on each slide and each bit of information, i.e. there should be balance in terms of how much time you information, i.e. there should be balance in terms of how much time you spend on each point. Finally, practicing ensures that your talk is the correct spend on each point. Finally, practicing ensures that your talk is the correct length.length.

• Grading criteria:Grading criteria:– Practiced presentation, e.g. you have something to say about each slide, Practiced presentation, e.g. you have something to say about each slide,

wording has clearly been worked out prior to class, you refer to wording has clearly been worked out prior to class, you refer to slides/figures/etc when making particular points, etc – slides/figures/etc when making particular points, etc – 15 points15 points

– Professional and polished presentation, e.g. stand and face the class, make Professional and polished presentation, e.g. stand and face the class, make eye contact with class members, etc – eye contact with class members, etc – 5 points5 points

– Speak for correct length of time, i.e. 5 min and no more than a couple Speak for correct length of time, i.e. 5 min and no more than a couple minutes longer – minutes longer – 5 points5 points


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Day 3Day 3

• Prenatal screeningPrenatal screening

• Testing for personality, mate choice, etcTesting for personality, mate choice, etc

• Genetic ancestry testingGenetic ancestry testing

• Reproductive technologiesReproductive technologies– Who is the mother when egg and sperm are Who is the mother when egg and sperm are

donated?donated?


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Genetic testingGenetic testing

• Gene testsGene tests (also called DNA-based tests), the newest and most (also called DNA-based tests), the newest and most sophisticated of the techniques used to test for genetic sophisticated of the techniques used to test for genetic disorders, involve disorders, involve direct examination of the DNA molecule itselfdirect examination of the DNA molecule itself– Other genetic tests include Other genetic tests include biochemical testsbiochemical tests for such gene products as enzymes for such gene products as enzymes

and other proteins and for and other proteins and for microscopic examinationmicroscopic examination of stained or fluorescent of stained or fluorescent chromosomes.chromosomes.

• Genetic tests are used for several reasons, including:Genetic tests are used for several reasons, including:– carrier screening, which involves identifying unaffected individuals who carry carrier screening, which involves identifying unaffected individuals who carry

one copy of a gene for a disease that requires two copies for the disease to be one copy of a gene for a disease that requires two copies for the disease to be expressed expressed

– preimplantation genetic diagnosispreimplantation genetic diagnosis– prenatal diagnostic testing prenatal diagnostic testing – newborn screening newborn screening – presymptomatic testing for predicting adult-onset disorders such as Huntington's presymptomatic testing for predicting adult-onset disorders such as Huntington's

disease disease – presymptomatic testing for estimating the risk of developing adult-onset cancers presymptomatic testing for estimating the risk of developing adult-onset cancers

and Alzheimer's disease and Alzheimer's disease – confirmational diagnosis of a symptomatic individual confirmational diagnosis of a symptomatic individual – forensic/identity testing forensic/identity testing


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Genetic testing for CFGenetic testing for CF• Lots of variants (Lots of variants (>1500 variants)>1500 variants) – which to test for??? – which to test for???

– 49% 49% F508/ F508/ F508 F508– 21% 21% F508/common mut, not F508/common mut, not F508 (3 multiplex PCRs)F508 (3 multiplex PCRs)– 21% 21% F508/rare mutF508/rare mut– 4.5% common mut, not 4.5% common mut, not F508/rare mut F508/rare mut– 2.25% homozygote - common mut, not 2.25% homozygote - common mut, not F508F508– 2.25% rare mut/rare mut2.25% rare mut/rare mut

• Screen for Screen for F508F508– How many individuals w/ at least 1 copy of How many individuals w/ at least 1 copy of F508 detected?F508 detected?– How many CF patients detected?How many CF patients detected?

• Screen for Screen for F508 and other common mutsF508 and other common muts– How many individuals w/ at least 1 copy of How many individuals w/ at least 1 copy of F508 or common F508 or common

mut detected?mut detected?– How many CF patients detected?How many CF patients detected?


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– 49% 49% F508/ F508/ F508F508– 21% 21% F508/common mut, not F508/common mut, not F508 (3 multiplex PCRs)F508 (3 multiplex PCRs)– 21% 21% F508/rare mutF508/rare mut– 4.5% common mut, not 4.5% common mut, not F508/rare mutF508/rare mut– 2.25% homozygote - common mut, not 2.25% homozygote - common mut, not F508F508– 2.25% rare mut/rare mut2.25% rare mut/rare mut

• Screen for Screen for F508F508– How many individuals w/ at least 1 copy of How many individuals w/ at least 1 copy of F508 detected?F508 detected?

• 91% so 91% so F508 screen will ID majority of CF patients or carriersF508 screen will ID majority of CF patients or carriers– How many CF patients detected?How many CF patients detected?




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• 91% so 91% so F508 screen will ID majority of CF patients or carriersF508 screen will ID majority of CF patients or carriers– How many CF patients detected?How many CF patients detected?

• 49%49%




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• 91% so 91% so F508 screen will ID majority of CF patients or carriersF508 screen will ID majority of CF patients or carriers

– How many CF patients detected?How many CF patients detected?• 49%49%

• Screen for Screen for F508 and other common mutsF508 and other common muts– How many individuals w/ at least 1 copy of How many individuals w/ at least 1 copy of F508 or common mut detected?F508 or common mut detected?

• 97.75%97.75%

– How many CF patients detected?How many CF patients detected?


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• 91% so 91% so F508 screen will ID majority of CF patients or carriersF508 screen will ID majority of CF patients or carriers

– How many CF patients detected?How many CF patients detected?• 49%49%

• Screen for Screen for F508 and other common mutsF508 and other common muts– How many individuals w/ at least 1 copy of How many individuals w/ at least 1 copy of F508 or common mut detected?F508 or common mut detected?

• 97.75%97.75%

– How many CF patients detected?How many CF patients detected?• 72.25%72.25%


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Genetic testingGenetic testing

• Gene testsGene tests (also called DNA-based tests), (also called DNA-based tests), the newest and most sophisticated of the the newest and most sophisticated of the techniques used to test for genetic techniques used to test for genetic disorders, involve disorders, involve direct examination of direct examination of the DNA molecule itselfthe DNA molecule itself


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Polymerase chain reaction (PCR)= the exponential, synthetic amplification of nucleic acid from a targeted region of the genome

Used to produce sufficient quantities of DNA so we can analyze it

Genetics, Hartl and Jones, 2000


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Prenatal/newborn testingPrenatal/newborn testing

Siblings born with PKU. Untreated 11 yr old boy (left) is severely retarded.His 2 ½ yr old sister was treated from early infancy with a low-phenylalanine

diet and has normal intelligence.Mange and Mange, 1999, Fig 1.1


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Pre-implantation genetic screeningPre-implantation genetic screening

• Hormone treatment to Hormone treatment to stimulate ovulation of stimulate ovulation of multiple eggsmultiple eggs

• in vitroin vitro fertilization of fertilization of several eggsseveral eggs

• 1-2 cells removed from 8-1-2 cells removed from 8-cell embryocell embryo

• PCR analysisPCR analysis• Implantation of unaffected Implantation of unaffected

embryosembryos

Korf 2000


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• Get ready for flood of prenatal genetic testingGet ready for flood of prenatal genetic testing

• http://www.nature.com/nature/journal/v469/http://www.nature.com/nature/journal/v469/n7330/full/469289a.htmln7330/full/469289a.html


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Genetic ancestryGenetic ancestry


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Measuring genetic ancestry of individualsMeasuring genetic ancestry of individuals• Ancestry informative markersAncestry informative markers

– Polymorphisms that exhibit large frequency Polymorphisms that exhibit large frequency differences between populations, possibly different differences between populations, possibly different ‘racial’ groups‘racial’ groups

– In Panel b, short alleles indicate increased probability In Panel b, short alleles indicate increased probability of African ancestryof African ancestry

Jobling et al. 2004, Fig 15.6


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Detecting and measuring admixtureDetecting and measuring admixture

• You can use allele You can use allele frequencies in ancestral frequencies in ancestral populations to calculate populations to calculate admixture in a completely admixture in a completely linear waylinear way

Jobling et al. 2004


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STRUCTURE analysis to determine ancestry proportions of individual populations

Three possible parental populationsOrange = African componentBlue = Asian componentYellow = European components


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Individual ancestry estimatesIndividual ancestry estimates

• Triangle plot displays ancestry Triangle plot displays ancestry proportions from three putative proportions from three putative parental populationsparental populations– 100 Alu markers provide much better 100 Alu markers provide much better

resolution of individual ancestry resolution of individual ancestry estimatesestimates

Jobling et al. 2004, Fig 9.5


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STRUCTURESTRUCTURESample of 87 Puerto RicansSample of 87 Puerto Ricans

No info on unadmixed/ancestral popsNo info on unadmixed/ancestral pops

Overall proportion of membership of thesample in each of the 3 clusters

Inferred Clusters 1 2 3 0.340 0.302 0.358


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Does genetic ancestry cluster geographically?Does genetic ancestry cluster geographically?

• Map shows location of Map shows location of population samplespopulation samples

• Graph shows distribution of Graph shows distribution of genetic ancestry in African, genetic ancestry in African, Asian and European Asian and European populationspopulations

Serre and Paabo 2004


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What if you collect more samples?What if you collect more samples?The geographic distinction disappears!!The geographic distinction disappears!!

Serre and Paabo 2004


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Americans want to know about Americans want to know about their geneticstheir genetics

• Would you want to know something about Would you want to know something about your genetic ancestry?your genetic ancestry?


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• Would you want to know something about Would you want to know something about your genetic ancestry?your genetic ancestry?– Why?Why?– What did you think of the genetic ancestry report?What did you think of the genetic ancestry report?


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• Would you want to know something about Would you want to know something about your genetic ancestry?your genetic ancestry?– Why?Why?

• Would you want to know something about Would you want to know something about your genetic predisposition for disease?your genetic predisposition for disease?


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• Would you want to know something about Would you want to know something about your genetic predisposition for disease?your genetic predisposition for disease?– If yes, would it have to be a disease with a cure?If yes, would it have to be a disease with a cure?


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• Would you want to know something about Would you want to know something about your genetic predisposition for disease?your genetic predisposition for disease?– Would it have to be a disease with a cure?Would it have to be a disease with a cure?– Would the disease risk have to be substantial, e.g. Would the disease risk have to be substantial, e.g.

greater than 50%?greater than 50%?


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• Would you want to know something about your Would you want to know something about your genetic ancestry?genetic ancestry?– Why?Why?

• Would you want to know something about your Would you want to know something about your genetic predisposition for disease?genetic predisposition for disease?– Would it have to be a disease with a cure?Would it have to be a disease with a cure?– Would the disease risk have to be substantial, e.g. greater Would the disease risk have to be substantial, e.g. greater

than 50%?than 50%?– What if the disease risk were only 5%?What if the disease risk were only 5%?


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than 50%?than 50%?– What if the disease risk were only 5%?What if the disease risk were only 5%?– Does it matter if the information comes from your doctor or Does it matter if the information comes from your doctor or

a commercial testing company?a commercial testing company?


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than 50%?than 50%?– What if the disease risk were only 5%?What if the disease risk were only 5%?– Does it matter if the information comes from your doctor or Does it matter if the information comes from your doctor or

a commercial testing company?a commercial testing company?– What would you do with this information?What would you do with this information?


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Parts of an article Parts of an article – some of this information is very field-specific and – some of this information is very field-specific and

may not be true outside Bioanthropologymay not be true outside Bioanthropology

• What is an abstract?What is an abstract?

• What information goes into an Intro?What information goes into an Intro?

• What information goes into Results?What information goes into Results?

• What information goes into Disc?What information goes into Disc?


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Parts of an articleParts of an article

• What is an abstract?What is an abstract?– A summary of points presented in skeletal formA summary of points presented in skeletal form– Opportunity for authors to specify what they think Opportunity for authors to specify what they think

are the most important pointsare the most important points





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• What information goes into an Intro?What information goes into an Intro?– Background infoBackground info– Foreshadows DiscussionForeshadows Discussion– All Intro material should be followed up later in articleAll Intro material should be followed up later in article




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• What is an abstract?What is an abstract?• What information goes into an Intro?What information goes into an Intro?• What information goes into Results?What information goes into Results?• What information goes into Disc?What information goes into Disc?

– Interpretation and significance of resultsInterpretation and significance of results– Opportunity for authors to focus on what they think is Opportunity for authors to focus on what they think is

most important about their resultsmost important about their results– Should pick up on info in IntroShould pick up on info in Intro– Can be very dependent on what topics are currently Can be very dependent on what topics are currently

‘hot’ so Discussion can become outdated even if ‘hot’ so Discussion can become outdated even if Results are still relevantResults are still relevant


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How to read a journal articleHow to read a journal article• Note year of publicationNote year of publication

– Anything more than 5 yrs old is fairly old in my fieldAnything more than 5 yrs old is fairly old in my field

• Note authorsNote authors– Have you read anything else by this lab?Have you read anything else by this lab?– AuthorAuthor et al. et al. YearYear is the best way to refer to a paper is the best way to refer to a paper

• Refer to articles this way in Questions/Comments, Journal Analysis, Refer to articles this way in Questions/Comments, Journal Analysis, exam, etcexam, etc

• General strategy for an article outside of your fieldGeneral strategy for an article outside of your field– Read Abstract, then Intro and then DiscRead Abstract, then Intro and then Disc– M&M is usually too complicated unless you want a specific M&M is usually too complicated unless you want a specific

piece of infopiece of info– Results is generally pretty cut and driedResults is generally pretty cut and dried– Re-read abstract after you read paperRe-read abstract after you read paper

• See what authors presented as the take-home messageSee what authors presented as the take-home message


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How to remember and How to remember and understand a journal articleunderstand a journal article

• Take notes while readingTake notes while reading• Re-read article until you really understand itRe-read article until you really understand it• Make summary notes when you are finished readingMake summary notes when you are finished reading

– What was purpose of study?What was purpose of study?– What questions were being asked?What questions were being asked?– What were final answers?What were final answers?– What was unique about the study?What was unique about the study?– What is the next step?What is the next step?

• Write notes on paper itself or on notecards or Write notes on paper itself or on notecards or electronicallyelectronically

c. mulligan, copyright 2011 all rights reserved bioethics in daily life day 3 ant 4930 prof. connie...

Documents

genetic codes http

pages http

skim http

behavior http

newborn genetic screening

designer babies http

genetic veil of ignorance

iceland genetics project