Transcript Informed consent, genetic complexity and

Informed consent, genetic
complexity & citizen science
Dana Waring
Cornerstones of Science
Library Partner Summit - December 12, 2014
[email protected]
@pgEdorg
@dwaringbateman
www.pged.org
Today’s agenda
• Can we use best selling books to engage, educate
and excite people about genetics?
• Practical, relevant, without jargon & clear
connection back to a person’s life, family or
experiences in society
• The Immortal Life of Henrietta Lacks and The
Sports Gene as a way to tackle informed consent
and genetic complexity. The Patient Will See You
Now, out in January 2015
The Immortal Life of Henrietta Lacks
http://www.radiolab.org/story/91716-henriettas-tumor/
2014: 228,000 genomes at $1000 a piece
2006: 1 genome
for $5,000,000
http://www.technologyreview.com/news/531091/emtech-illumina-says-228000-human-genomes-will-be-sequenced-this-year/
Building the databases between traits
(including disease) and our genes
How do scientists use
cell lines in 2014?
https://catalog.coriell.org/0/Sections/BrowseCatalog/Diseases.aspx?PgId=3
http://www.nature.com/news/hela-publication-brews-bioethical-storm-1.12689
Do scientists still use HeLa cells?
55,000+ publications since
Immortal Life of Henrietta Lacks was published!
The Lacks family gets a say with the
National Institutes of Health via a
“data use committee”
http://www.usatoday.com/story/tech/sciencefair/2013/08/07/henrietta-lacks-nih/2627923/
Informed consent: Do you want to know about:
Genetic markers that are strongly linked to
conditions that benefit from early treatments,
treatments with a possibility of success?
Genetic markers associated with adult onset
diseases, for which successful treatments exist?
Genetic markers associated with adult onset
disease, but lack established successful treatments
and interventions?
Genetic markers that *might* be linked to disease
but are not well understood?
The Lacks family: pioneers in consent,
privacy and research ethics
http://rebeccaskloot.com/wp-content/uploads/2011/08/HELA-hist-marker-3.jpg
The Sports Gene
David Epstein’s TED Talk
http://www.ted.com/talks/david_epstein_are_athletes_really_getting_faster_better_stronger?language=en
http://www.washingtonpost.com/news/morning-mix/wp/2014/07/02/how-tourettes-afflicted-tim-howard-went-from
-international-ridicule-to-world-cup-history/
http://www.telegraph.co.uk/sport/othersports/athletics/11126511/Dennis-Kimetto-sets-new-world-record-at-Berlin-Marathon.html
Do Now
Answer the following questions:
Do you wish your parents had genetically tested
you as a child to see if there is a certain sport at
which you might excel or to see if you might have
a special gift for music? Why or why not?
What could be a benefit and what could be a
disadvantage to having genetic analysis of this
sort performed at an early age?
What can a genetic test for
“sports ability” tell us?
www.nytimes.com/2008/11/30/sports/30genetics.html
How do genetic testing and athletics
intersect?
• Genetic testing is being used to predict injury risk
and to detect medical conditions with the aim of
preventing harm to athletes
• Companies offer testing to help parents and
children use genetics as part of the puzzle in
deciding what sport to pursue.
• The role of genetic testing in sports presents a
number of personal and societal questions in
need of attention.
CARDIOMYOPATHY
Source: American Heart Association
SICKLE CELL TRAIT
How do we decide to
screen for conditions
that may put an
athlete’s health at risk?
How common or risky
does a trait need to be
before we screen
everyone?
Why can US Olympian Jennie Finch strike out
top Major League Baseball players with a much slower
pitch than they typically hit?
http://azstarnet.com/gallery/sports/college/wildcats/photos-softball-pitcher-jennie-finch/collection
Michael Phelps and
Usain Bolt:
What has led them
to excel?
Photo via www.michaelphelps.net
Photo: Matt Dunham AP
Discussion questions:
• How effective might genetic analysis be in
predicting athletic performance?
• Should genetic analysis be used to screen
athletes for health conditions? Why or why not?
• From a scientific perspective, what are the most
important facts when examining the link between
athletic performance and genetics?
• What should a family consider when a child is
thinking about playing a contact sport? How can
genetic information both illuminate and complicate
how parents decide what is right for their children?
http://esl-bits.net/listening/Media/2013-07-24/A.Fathers.Hunt/
Citizen scientists
Partners in health