Transcript Ethical issues in personalized genomics

Genetic screening:
Evolving science, evolving ethics
John D. Lantos M.D., Director
Children’s Mercy Bioethics Center
Children’s Mercy Hospital, KCMO
COPYRIGHT 2012
A new era in
genomics and medicine?
• Human genome project
• Direct-to-consumer genomics
• Intellectual property disputes
– Moore
– Catalona
– Myriad Genetics
– Henrietta Lacks
• Personal Genome Project
Past fears
• Eugenics
– Nazi abuses
– Racial stereotypes/profiles – Bell Curve
• Compulsory sterilization
• Genetic determinism
Fears seem to be receding
• The 20th century saw horrific genocides
inspired by Nazi pseudoscience about genetics
and race. It also saw horrific genocides inspired
by Marxist pseudoscience about the malleability
of human nature. Two of the groups who were
historically most victimized by racial
pseudoscience — Jews and African-Americans
— are among the most avid consumers of
information about their genes.
– Steven Pinker
Is genetic information different?
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My family history
My blood pressure and cholesterol level
My psychiatric history
The meds in my medicine cabinet
My tax returns
Records of my web searches
Who should have access?
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Only doctors
Doctors and patients
Family members
Researchers
Insurance companies
The world
Key ethical questions
• Can laws, rules, and morals be imported
from other domains to “cover” genomics?
Personal Genome Project
• Ten individuals agree to make their genome and
their health records public.
• “volunteers…willing to share their genome
sequence and many types of personal
information with the research community and the
general public, so that together we will be better
able to advance our understanding of genetic
and environmental contributions to human
traits.”
MISSION
To encourage the
development of personal
genomics technology and
practices that:
- are effective, informative,
and responsible;
- yield identifiable and
improvable benefits at
manageable levels of risk;
and
- are broadly available for
the good of the general
public
Three people wrote about being
participants in the PGP
Misha Angrist
Richard
Powers
Steven
Pinker
Personal Genome Project
• Harvard IRB:
– All subjects must have Masters in genetics
– Subjects told that there would be no privacy
– Subjects agree to disclose health information
Informed Consent
• Your posted genomic and medical
information could be used to:
– Infer paternity
– Claim statistical evidence that could affect your
employment or insurability
– Claim your relatedness to infamous villains
– Synthesize DNA and plant it at a crime scene
– Reveal propensity for a disease
Risks
• “Did I really want my genome to be
available to everyone via a mouse click
when I clearly didn’t feel that way about
other aspects of my life…My therapist
speculated that maybe my whole foray into
the land of public genomes was just
another form of acting out.”
• Misha Angrist
Risks
• There are risks of misunderstandings, but
there are also risks in much of the flimflam
we tolerate in alternative medicine, and in
the hunches and folklore that many
doctors prefer to evidence-based
medicine.
– Pinker
Risks
• “Personal genomics is just too much fun.”
– Pinker
Risks
• Curiosity may be just suspicion co-opted
by endorphins. I had no idea what I was
blundering into. But I figured I could start
learning now about privacy and public
good, research and entrepreneurship, risk
and susceptibility—all the dangers of
knowing the full story—or I could bump up
against them later, along with the rest of
unwitting humanity.
– Richard Powers
Complexity
• Assessing risks from genomic data is not
like using a pregnancy test kit. It’s more
like writing a term paper on a topic with a
huge and chaotic research literature. You
are whipsawed by contradictory studies
with different sample sizes, ages, sexes,
ethnicities, selection criteria and levels of
statistical significance.
– Steven Pinker
Life-changing?
• “In the end, this journey of self-exploration
had turned out to be more of a speculative
intellectual exercise than a life-changing
clinical one.”
• “My own genome was no longer an
abstraction for me, but neither was it an
immediate revelation.”
– Misha Angrist
Genes and identity
• I soon realized that I was using my
knowledge of myself to make sense of the
genetic readout, not the other way around.
– Steven Pinker
Dealing with bad news
• We know what happens to people who do
get the worst news. They don’t sink into
despair or throw themselves off bridges;
they handle it perfectly well. Most of us
cope using some combination of denial,
resignation and religion.
– Steven Pinker
The Future
• People who have grown up with the
democratization of information will not
tolerate paternalistic regulations that keep
them from their own genomes.
– Steven Pinker
Genotype and phenotype
• When the connection between the ACTN3
gene and muscle type was discovered,
parents and coaches started swabbing the
cheeks of children so they could steer the
ones with the fast-twitch variant into
sprinting and football.
– Steven Pinker
Genotype and phenotype
• Carl Foster, one of the scientists, had a
better idea: “Just line them up with their
classmates for a race and see which ones
are the fastest.”
– Steven Pinker
Genotype and phenotype
• If you want to know whether you are at risk
for high cholesterol, have your cholesterol
measured; if you want to know whether you
are good at math, take a math test.
– Pinker
Genotype and phenotype
• If you really want to know yourself, consider
the suggestion of François La
Rochefoucauld: “Our enemies’ opinion of
us comes closer to the truth than our own.”
– Pinker
The Experimental Man Project
Online and Book
First Step:
Visit My Internist
Prognosis after routine check-up:
• Healthy
• Borderline high cholesterol
• Heart attack risk: 4 percent risk 10 years
The Experiment
• Number of labs, companies: ~250
• Amount of blood drawn, in liters: ~2
• Hours spent in an MRI: 22
• Number of chemical toxins tested for:
320
• Gene markers tested, in millions: 7 – 10
• Gigabytes of data produced: ~100
• Cost: ~$150,000
GENES
Blood, Spit, and Swabs
ENVIRONMENT
Chemical
Report Card
Labs: Axyss Analytical,
Quest Diagnostics
Chemicals Tested: 320
Detected: 165
Cost: $15,000
Duncan D.E.,National Geographic, 2006
BRAIN
BODY
Scans: Ultrasound and CT
Carotid and Chest
(Part of a full-body scan)
Copyright 2008 Entelos, Inc.
Still going… more tests
My Proteomic Scan
Microbial Scan
(Coming)
Conclusion
• “I ought to lose 10 pounds…”
Nothing new
• I’m flooded with the memory of the books:
– Madame Bovary, with its subplot of private
medical research gone horribly wrong.
– Middlemarch, with its search for the Key to All
Mythologies.
– The Magic Mountain, whose hero, convinced
that the newly discovered X-rays are a
glimpse inside people’s souls, carries around
an X-ray photograph of his beloved as a kind
of erotic fetish.
– Richard Powers
• A few years from now, people may carry
around their loved ones’ personal
genomes on USB key fobs.
– Powers
The Future
• “Just like with personal computing, until
there are some compelling stories
involving real products, the only people
who are going to get what’s happening are
the ones who can imagine things that
aren’t yet there.”
– George Church
The Future
• Most hunters and gatherers would never
have been able to wrap their heads
around the concept of a supermarket. The
naysayers would have insisted that
landing food was always going to remain
probabilistic, that no amount of technology
would ever make the satisfaction of
hunger anything more than a matter of
chance. “But the naysayers were wrong.”
– Richard Powers, on George Church
Why?
• Personal genomic medicine is not merely
about saving lives; it’s a more
complicated, ambiguous story, one dating
back to the start of technological time: the
gradual replacement of luck with control.
Once upon a time, we were dealt a hand
by Fate, God, or the Unreliable Narrator,
and the task of life was to deal with that
hand. Now the task is to improve the deal.
– Richard Powers
Personalized Genomics
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A vague sense of promise
Ambiguous benefits
Vague (and mostly unrealized) fears
A technology in search of an application
Ethics
Too soon for
conclusions
New ideas about self,
privacy, medicine, and
freedom.
Evidence-based ethics
• Ethics should reflect human values and
human experience
• Crucial to understanding the meaning of
the new genetics to the people who want
it, need it, and use it.
• Ethics should shape technology, but only
with good feedback loops.
Money
• There seems to be no end of money that
might be made from the molecularization
of human health.
– Richard Powers