Bioethics in Daily Life

Bioethics in Daily Life Day 3 ANT 4930 Prof. Connie J. Mulligan Department of Anthropology

This week – Genetic screening/genetic testing and ancestry estimation • Prenatal screening • Testing for personality, mate choice, etc • Genetic ancestry testing • Reproductive technologies • Who is the mother when egg and sperm are donated? • Required reading (also listed on course webpage, Day 3) • http://www.newsweek.com/2010/06/09/inside-information.print.html - Newsweek article, Americans want to know their genetic codes • http://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 screening • http://www.nature.com/nature/journal/v466/n7308/pdf/466816a.pdf - Nature, Aug 12 2010, Genetic testing regulation • http://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 date • Skim http://bioethics.georgetown.edu/pcbe/reports/beyondtherapy/ - Beyond Therapy: Biotechnology and the Pursuit of Happiness, report from the President’s Council on Bioethics, 2003 (353 pages) • Video – African American Lives • Four oral presentations

Next week – Genetic screening/genetic enhancement • Eugenics • Designer babies • Required reading (also listed on course webpage, Day 3) • Bioethics at the Movies (BAM) • Chpt 5 (“No Gene for Fate?”: Luck, Harm, and Justice in Gattaca) • Chpt 6 (Lifting the Genetic Veil of Ignorance: Is there anything really unjust about Gattacan society?) • http://www.scientificamerican.com/article.cfm?id=regulate-designer-babies – Scientific American article on the need to regulate ‘designer babies’ • http://en.wikipedia.org/wiki/Eugenics - Wikipedia entry on eugenics • Video – GATTACA • Four oral presentations

Group projects • Group projects (10 per semester, 10 points per project, same grade for entire group): • Suggestions for successful group projects: • Limit yourselves to one main point, or at the most two related points, to be included in your projects. Resist the impulse to include all information relevant to your topic. Instead choose the one, or two, pieces of information that best support or explain your point. • I think 5 minutes is sufficient time for the sort of projects and presentations I have in mind. Thus, I am modifying the original description of 5-10 min presentations to 5 min presentations. • Grading criteria: • Explicit statement of question or problem – 2 points • Explicit statement of answer or position – 2 points • Inclusion of scientific information to support your point – 2 points • Clear evidence of critical thinking in presentation of your position – 2 points • Use of visual aids to enliven project/talk – 1 point • Proper citation of sources – 1 point

Oral presentations • Oral presentations (4 per semester, 25 points per presentation, individual grade for presenter): • Suggestions for successful oral presentations: • 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 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 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 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 length. • Grading criteria: • Practiced presentation, e.g. you have something to say about each slide, wording has clearly been worked out prior to class, you refer to slides/figures/etc when making particular points, etc – 15 points • Professional and polished presentation, e.g. stand and face the class, make eye contact with class members, etc – 5 points • Speak for correct length of time, i.e. 5 min and no more than a couple minutes longer – 5 points

Day 3 • Prenatal screening • Testing for personality, mate choice, etc • Genetic ancestry testing • Reproductive technologies • Who is the mother when egg and sperm are donated?

Genetic testing • Gene tests (also called DNA-based tests), the newest and most sophisticated of the techniques used to test for genetic disorders, involve direct examination of the DNA molecule itself • Other genetic tests include biochemical tests for such gene products as enzymes and other proteins and for microscopic examination of stained or fluorescent chromosomes. • Genetic tests are used for several reasons, including: • 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 expressed • preimplantation genetic diagnosis • prenatal diagnostic testing • newborn screening • presymptomatic testing for predicting adult-onset disorders such as Huntington's disease • presymptomatic testing for estimating the risk of developing adult-onset cancers and Alzheimer's disease • confirmational diagnosis of a symptomatic individual • forensic/identity testing

Genetic testing for CF • Lots of variants (>1500 variants) – which to test for??? • 49% F508/  F508 • 21% F508/common mut, not F508 (3 multiplex PCRs) • 21% F508/rare mut • 4.5% common mut, not  F508/rare mut • 2.25% homozygote - common mut, not F508 • 2.25% rare mut/rare mut • Screen for F508 • How many individuals w/ at least 1 copy of F508 detected? • How many CF patients detected? • Screen for F508 and other common muts • How many individuals w/ at least 1 copy of F508 or common mut detected? • How many CF patients detected?

Genetic testing for CF • Lots of variants (>900 variants) – which to test for??? • 49% F508/ F508 • 21% F508/common mut, not F508 (3 multiplex PCRs) • 21% F508/rare mut • 4.5% common mut, not F508/rare mut • 2.25% homozygote - common mut, not F508 • 2.25% rare mut/rare mut • Screen for F508 • How many individuals w/ at least 1 copy of F508 detected? • 91% so F508 screen will ID majority of CF patients or carriers • How many CF patients detected? • Screen for F508 and other common muts • How many individuals w/ at least 1 copy of F508 or common mut detected? • How many CF patients detected?

Genetic testing for CF • Lots of variants (>900 variants) – which to test for??? • 49% F508/ F508 • 21% F508/common mut, not F508 (3 multiplex PCRs) • 21% F508/rare mut • 4.5% common mut, not F508/rare mut • 2.25% homozygote - common mut, not F508 • 2.25% rare mut/rare mut • Screen for F508 • How many individuals w/ at least 1 copy of F508 detected? • 91% so F508 screen will ID majority of CF patients or carriers • How many CF patients detected? • 49% • Screen for F508 and other common muts • How many individuals w/ at least 1 copy of F508 or common mut detected? • How many CF patients detected?

Genetic testing for CF • Lots of variants (>900 variants) – which to test for??? • 49% F508/ F508 • 21% F508/common mut, not F508 (3 multiplex PCRs) • 21% F508/rare mut • 4.5% common mut, not F508/rare mut • 2.25% homozygote - common mut, not F508 • 2.25% rare mut/rare mut • Screen for F508 • How many individuals w/ at least 1 copy of F508 detected? • 91% so F508 screen will ID majority of CF patients or carriers • How many CF patients detected? • 49% • Screen for F508 and other common muts • How many individuals w/ at least 1 copy of F508 or common mut detected? • 97.75% • How many CF patients detected?

Genetic testing for CF • Lots of variants (>900 variants) – which to test for??? • 49% F508/ F508 • 21% F508/common mut, not F508 (3 multiplex PCRs) • 21% F508/rare mut • 4.5% common mut, not F508/rare mut • 2.25% homozygote - common mut, not F508 • 2.25% rare mut/rare mut • Screen for F508 • How many individuals w/ at least 1 copy of F508 detected? • 91% so F508 screen will ID majority of CF patients or carriers • How many CF patients detected? • 49% • Screen for F508 and other common muts • How many individuals w/ at least 1 copy of F508 or common mut detected? • 97.75% • How many CF patients detected? • 72.25%

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

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

Prenatal/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

Pre-implantation genetic screening • Hormone treatment to stimulate ovulation of multiple eggs • in vitro fertilization of several eggs • 1-2 cells removed from 8-cell embryo • PCR analysis • Implantation of unaffected embryos Korf 2000

Get ready for flood of prenatal genetic testing • http://www.nature.com/nature/journal/v469/n7330/full/469289a.html

Genetic ancestry

Measuring genetic ancestry of individuals • Ancestry informative markers • Polymorphisms that exhibit large frequency differences between populations, possibly different ‘racial’ groups • In Panel b, short alleles indicate increased probability of African ancestry Jobling et al. 2004, Fig 15.6

Detecting and measuring admixture • You can use allele frequencies in ancestral populations to calculate admixture in a completely linear way Jobling et al. 2004

STRUCTURE analysis to determine ancestry proportions of individual populations Three possible parental populations Orange = African component Blue = Asian component Yellow = European components

Individual ancestry estimates • Triangle plot displays ancestry proportions from three putative parental populations • 100 Alu markers provide much better resolution of individual ancestry estimates Jobling et al. 2004, Fig 9.5

STRUCTURESample of 87 Puerto RicansNo info on unadmixed/ancestral pops Overall proportion of membership of the sample in each of the 3 clusters Inferred Clusters 1 2 3 0.340 0.302 0.358

Does genetic ancestry cluster geographically? • Map shows location of population samples • Graph shows distribution of genetic ancestry in African, Asian and European populations Serre and Paabo 2004

What if you collect more samples?The geographic distinction disappears!! Serre and Paabo 2004

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

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

Americans want to know about their genetics • Would you want to know something about your genetic ancestry? • Why? • Would you want to know something about your genetic predisposition for disease?

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

Americans want to know about their genetics • Would you want to know something about your genetic ancestry? • Why? • Would you want to know something about your genetic predisposition for disease? • Would it have to be a disease with a cure? • Would the disease risk have to be substantial, e.g. greater than 50%?

Americans want to know about their genetics • Would you want to know something about your genetic ancestry? • Why? • Would you want to know something about your genetic predisposition for disease? • Would it have to be a disease with a cure? • Would the disease risk have to be substantial, e.g. greater than 50%? • What if the disease risk were only 5%?

Americans want to know about their genetics • Would you want to know something about your genetic ancestry? • Why? • Would you want to know something about your genetic predisposition for disease? • Would it have to be a disease with a cure? • Would the disease risk have to be substantial, e.g. greater than 50%? • What if the disease risk were only 5%? • Does it matter if the information comes from your doctor or a commercial testing company?

Americans want to know about their genetics • Would you want to know something about your genetic ancestry? • Why? • Would you want to know something about your genetic predisposition for disease? • Would it have to be a disease with a cure? • Would the disease risk have to be substantial, e.g. greater than 50%? • What if the disease risk were only 5%? • Does it matter if the information comes from your doctor or a commercial testing company? • What would you do with this information?

How to read a journal article

Parts of an article – some of this information is very field-specific and may not be true outside Bioanthropology • What is an abstract? • What information goes into an Intro? • What information goes into Results? • What information goes into Disc?

Parts of an article • What is an abstract? • A summary of points presented in skeletal form • Opportunity for authors to specify what they think are the most important points • What information goes into an Intro? • What information goes into Results? • What information goes into Disc?

Parts of an article • What is an abstract? • What information goes into an Intro? • Background info • Foreshadows Discussion • All Intro material should be followed up later in article • What information goes into Results? • What information goes into Disc?

Parts of an article • What is an abstract? • What information goes into an Intro? • What information goes into Results? • Just Results • No interpretation, no discussion • What information goes into Disc?

Parts of an article • What is an abstract? • What information goes into an Intro? • What information goes into Results? • What information goes into Disc? • Interpretation and significance of results • Opportunity for authors to focus on what they think is most important about their results • Should pick up on info in Intro • Can be very dependent on what topics are currently ‘hot’ so Discussion can become outdated even if Results are still relevant

How to read a journal article • Note year of publication • Anything more than 5 yrs old is fairly old in my field • Note authors • Have you read anything else by this lab? • Author et al. Year is the best way to refer to a paper • Refer to articles this way in Questions/Comments, Journal Analysis, exam, etc • General strategy for an article outside of your field • Read Abstract, then Intro and then Disc • M&M is usually too complicated unless you want a specific piece of info • Results is generally pretty cut and dried • Re-read abstract after you read paper • See what authors presented as the take-home message

How to remember and understand a journal article • Take notes while reading • Re-read article until you really understand it • Make summary notes when you are finished reading • What was purpose of study? • What questions were being asked? • What were final answers? • What was unique about the study? • What is the next step? • Write notes on paper itself or on notecards or electronically

Bioethics in Daily Life