Transcript What information goes into Results?

Bioethics in Daily Life
Day 4
ANT 4930
Prof. Connie J. Mulligan
Department of Anthropology
C. Mulligan, Copyright 2011
All rights reserved
Group presentations
• Should be a product of contributions of all group
members
– Not one member’s idea and other members look for
information to support that idea
– Should be something different than any one member could
have created
• Must have clear scientific content
– Should be able to point to scientific content
– Should have numbers, table, reference, etc not just a
scientific idea of the group
• This week, email me your group’s idea(s) by Friday so
I can have some input.
C. Mulligan, Copyright 2011
All rights reserved
Black? White? Asian? More young
Americans choose all of the above
• http://www.nytimes.com/2011/01/30/us/30mixed.html?src=me&ref=
general
• College students today include the largest group of mixed-race
people ever to come of age in the United States
• One in seven new marriages is between spouses of different races
or ethnicities
• “It depends on the day, and it depends on the options.”
• “If someone tries to call me black I say, ‘yes — and white.’”
• “All society is trying to tear you apart and make you pick a side.”
C. Mulligan, Copyright 2011
All rights reserved
This week – Genetic screening II/
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
C. Mulligan, Copyright 2011
All rights reserved
Next week – Genetic screening III/
Gene therapy
•
•
•
•
•
Gene therapy methods
Gene therapy to cure disease
Gene therapy case study at UF
Gene therapy/genetic engineering in non-pathological cases, i.e. genetic enhancement
Required reading (also listed on course webpage, Day 4)
– http://ghr.nlm.nih.gov/handbook/therapy/ethics - very short article on gene therapy
– http://www.cancer.gov/cancertopics/factsheet/Therapy/gene - National Cancer
Institute website on gene therapy for cancer
– http://www.ornl.gov/sci/techresources/Human_Genome/publicat/genechoice/7_dr.htm
- case study of genetic engineering/eugenics
– http://www.research.ufl.edu/publications/explore/current/story_2/ - UF’s Explore
article on UF’s Barry Byrne’s research on Pompe disease and how it was made into a
movie
•
Video – Extraordinary Measures
•
Four oral presentations
C. Mulligan, Copyright 2011
All rights reserved
Day 4
• Eugenics
• Designer babies
• Pushing genetic technologies to create
superior ‘enhanced’ human beings
C. Mulligan, Copyright 2011
All rights reserved
Design your baby
• Choose your baby’s hair, eye and skin color
• Who would be interested?
C. Mulligan, Copyright 2011
All rights reserved
• Today, people are more interested in designing a
single individual than engineering an entire group
of people, like eugenics, i.e. “the biosocial
movement which advocates the use of practices
aimed at improving the genetic composition of a
population” (Wikipedia)
• More of a ‘personal service model’ (Buchanan et al.
2000), driven by a capitalistic society where
services with a demand are provided to those who
can afford them, i.e. no state-controlled program of
eugenics, although the services can become so
widely used that they change the genetic
composition of a population
C. Mulligan, Copyright 2011
All rights reserved
Should we have a Gattacan society?
• Book argues this point from a strictly ethical
perspective
• First, we need to look at the science
– Not just whether it’s feasible, but what a Gattacan
society would look like once the technology is
available
– Because it’s science fiction, there is a tendency to
allow anything. But Gattacan society is close enough
to reality that we can predict what would and would not
be possible in a Gattacan society. That is where the
C. Mulligan, Copyright 2011
argument should take place.
All rights reserved
Can we engineer an enhanced
human?
C. Mulligan, Copyright 2011
All rights reserved
Can we engineer an enhanced
human?
• No, but we can select
fertilized embryos with
certain genetic
characteristics
• Genotype at the preimplantation stage and
implant the embryo with
the desired genotype
C. Mulligan, Copyright 2011
All rights reserved
How accurately can we predict
phenotype from genotype?
• GATTACA Vincent’s prognosis
– Neurological condition – 60% probability
– Manic depression – 42% probability
– Attention deficit disorder – 89% probability
– Heart disorder – 99% probability
– Early fatal potential, life expectancy – 30.2 years
• Is this feasible or reasonable?
C. Mulligan, Copyright 2011
All rights reserved
How accurately can we predict
phenotype from genotype?
• GATTACA Vincent’s prognosis
– Neurological condition – 60% probability
– Manic depression – 42% probability
– Attention deficit disorder – 89% probability
– Heart disorder – 99% probability
– Early fatal potential, life expectancy – 30.2 years
• Is this feasible or reasonable?
• It’s very hard to predict the probability of
complex phenotypes
C. Mulligan, Copyright 2011
All rights reserved
Inheritance of
monogenic and
complex
phenotypes/disorders
C. Mulligan, Copyright 2011
All rights reserved
• This kind of certainty would
be very difficult, if not
impossible, for a complex
phenotype
•
•
•
•
•
Neurological condition – 60%
probability
Manic depression – 42%
probability
Attention deficit disorder – 89%
probability
Heart disorder – 99%
probability
Early fatal potential, life
expectancy – 30.2 years
• More likely – ‘XXX has two
alleles that increase his
probability of heart disease
approximately 5-10% relative
to the general population,
not counting other
unidentified and untested
genes/alleles or
environmental effects
C. Mulligan, Copyright 2011
All rights reserved
What about linked traits?
• We can’t predict with certainty the
probability of tested traits
• What about other traits whose genes are
‘linked’ to the genes we’re testing and
selecting
• What is this phenomenon called?
C. Mulligan, Copyright 2011
All rights reserved
Linkage disequilibrium
C. Mulligan, Copyright 2011
All rights reserved
Use of linked genetic markers, i.e. linkage
disequilibrium, to test for presence of
“disease gene” or any trait of interest
Genetics, Hartl and Jones, 2000
C. Mulligan, Copyright 2011
All rights reserved
What is linkage disequilibrium
(LD)?
• The tendency of particular alleles at distinct loci
to be co-inherited
– Also called gametic association
– Commonly thought of as ‘linked genes’
• Markers that are physically close on the
chromosome are more likely to be inherited
together, i.e. are in strong LD
• Markers that are more distant from each other
are in weaker LD – why?
C. Mulligan, Copyright 2011
All rights reserved
What is linkage disequilibrium (LD)?
• The tendency of particular alleles at distinct loci
to be co-inherited
– Also called gametic association
– Commonly thought of as ‘linked genes’
• Markers that are physically close on the
chromosome are more likely to be inherited
together, i.e. are in strong LD
• Markers that are more distant from each other
are in weaker LD – why?
– Because there is a greater chance of recombination
breaking up those markers
C. Mulligan, Copyright 2011
All rights reserved
LD around an ancestral mutation
• Markers close to the ancestral mutation tend to remain
associated with it despite the passage of time and
recombination events
• Recombination hotspots can change this relationship, i.e.
close markers can be out of LD and far markers can
remain in LD
Jobling et al. 2004,
Fig 3.27
C. Mulligan,
Copyright 2011
All rights reserved
What does LD mean in terms of
genetic enhancement?
C. Mulligan, Copyright 2011
All rights reserved
What does LD mean in terms of
genetic enhancement?
• If genetic markers, and genes, are in LD and are
more likely to be co-inherited, that means you are
selecting for more than just one the gene/allele
you have tested
• For example, by choosing blue eyes, and
selecting against brown eyes, you may also select
against a gene involved in intelligence. You may
also select a gene associated with violence.
C. Mulligan, Copyright 2011
All rights reserved
What does LD mean in terms of
genetic enhancement?
• Many complex disorders have a spectrum of
symptoms, some of which can be highly adaptive
– Autism
• Asberger syndrome/high-functioning autistics/Bill Gates?
C. Mulligan, Copyright 2011
All rights reserved
How to read a journal article
C. Mulligan, Copyright 2011
All rights reserved
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?
C. Mulligan, Copyright 2011
All rights reserved
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?
C. Mulligan, Copyright 2011
All rights reserved
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?
C. Mulligan, Copyright 2011
All rights reserved
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?
C. Mulligan, Copyright 2011
All rights reserved
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
C. Mulligan, Copyright 2011
All rights reserved
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
C. Mulligan, Copyright 2011
All rights reserved
Discussion questions
• How realistic is Gattacan society?
C. Mulligan, Copyright 2011
All rights reserved
Discussion questions
• How realistic is Gattacan society?
• Are children whose genes have been chosen by their parents likely
to have unique emotional burdens?
C. Mulligan, Copyright 2011
All rights reserved
Discussion questions
• How realistic is Gattacan society?
• Are children whose genes have been chosen by their parents likely
to have unique emotional burdens?
• Is the argument at the level of the individual (any individual had no
alternative but to not be born) or at the level of society?
C. Mulligan, Copyright 2011
All rights reserved
Discussion questions
• How realistic is Gattacan society?
• Are children whose genes have been chosen by their parents likely
to have unique emotional burdens?
• Is the argument at the level of the individual (any individual had no
alternative but to not be born) or at the level of society?
• Is Gattacan society unfair? Is it more unfair that society today?
C. Mulligan, Copyright 2011
All rights reserved
Discussion questions
• How realistic is Gattacan society?
• Are children whose genes have been chosen by their parents likely
to have unique emotional burdens?
• Is the argument at the level of the individual (any individual had no
alternative but to not be born) or at the level of society?
• Is Gattacan society unfair? Is it more unfair that society today?
• How much can we transcend our genes? Will people work harder
to overcome a deficit and will we select against that determination
if no one has a deficit?
C. Mulligan, Copyright 2011
All rights reserved
Discussion questions
• How realistic is Gattacan society?
• Are children whose genes have been chosen by their parents likely
to have unique emotional burdens?
• Is the argument at the level of the individual (any individual had no
alternative but to not be born) or at the level of society?
• Is Gattacan society unfair? Is it more unfair that society today?
• How much can we transcend our genes? Will people work harder
to overcome a deficit and will we select against that determination
if no one has a deficit?
• Is it OK to allow genetic enhancement, but make strict genetic
privacy laws (ignorance veil – Chpt 6) so there is no discrimination
based on a simple read of one’s genome?
C. Mulligan, Copyright 2011
All rights reserved