B Y I NVITATION O NLY :
YOU MAY WANT TO ASK YOUR GENETICIST
PRESERVING PRIVACY
before you take that drug. Why?
GENETICS AFFECT YOUR DRUG RESPONSE
Good responders
No toxicity of drug
metabolites
Bad responders
Toxicity of drug
metabolites
Variability in
Drug response
Cytochrome P450: Liver enzyme
Same Medication, Same Dose,
Different SNPs
•
TO
Good responders
Toxicity of drug
metabolites
Convince
hundreds of
thousands of
people to allow
ongoing access to
their DNA and
medical records so
both early- and
late-onset disease
can be
documented
 Need a new type of informed consent because
current types do not cover using old samples for new
research, and there is no coherent process for ongoing
access to medical records
OF TRUST”
THESIS:
Expanding GINA to define and
require a more robust system of informed
consent procedures for patients in
pharmacogenomics studies and expand
discrimination protection to all insurance
will preserve human dignity and
autonomy during the advancement of
personalized medicine because it
protects against potential discrimination
and dehumanization on the basis of
medical and genetic information.
KANTIAN ARGUMENTS FOR POLICY
• Autonomy: Rational beings have a right to self-determination.
•
•
• Record data for hundreds of thousands of people
• Use statistics to correlate disease states with SNPs
PHARMACOGENOMICS
The Havasupai people of Arizona were desperate. Nearly
50% of tribe members were affected by Type II diabetes,
and tribal leaders wanted to understand if the disease had
a genetic basis so that predisposed individuals could take
preventative measures. They asked two professors at
Arizona State University to help them, consenting
specifically to experiments about diabetes. Unfortunately,
one of the professors had other ideas. She conducted
experiments on schizophrenia and shared the data with
post-docs and even professors at other schools. The
Havasupai then brought a lawsuit against the university,
claiming that tribe members “[feared] going to the health
clinic, seeking medical attention, or providing blood
samples for medical diagnosis or treatment.”
• Look for Single Nucleotide Polymorphisms (SNPs) in
DNA using microarrays or whole-genome sequencing
Whole-Genome Sequencing Methods
IN
“A BETRAYAL
Bad responders
No toxicity of drug
metabolites
REJECTING “ONE-SIZE-FITS-ALL“
CONSENT
Reform GINA
KRISTIAN BOROFKA, AMANDA DEWEY & JULIE HERMAN
• Medications work as intended between 50 and 60%
of the time
• That number is closer to 20% for cancer therapies
• Over 700,000 people in the U.S. suffer or die as a
result of an adverse drug reaction every year.
STEPS
AND
A NEW POLICY FOR A NEW WORLD
• If an individual cannot control choices about who uses their genetic information and
how, their autonomy is removed
• If an individual does not have enough information to make an informed decision,
their autonomy is constrained
• Proper informed consent, which is a way to ensure patients make free, uncoerced,
informed choices, is necessary for autonomy
Privacy: An individual’s right to privacy is the right to freedom from unauthorized
intrusion into medical and genetic information by others.
• Third Party Transfer violates privacy because individuals have a right to
noninterference
Dignity: Innate human worth.
• Personal and cultural beliefs are important extensions of persons, and violating them
through unauthorized use of DNA is dehumanizing
• Preventing discrimination with regard to insurance is important to dignity
• Discrimination intrinsically frames some humans as worth less than others
• Access to insurance is critical to maintaining a dignified life
Currently:
• Bans discrimination by health
insurance companies and
employers on the basis of
genetic predisposition to
disease
• Bans insurers and employers
from requiring individuals to
undergo genetic testing
It does not cover
• Discrimination by long-term
care and life insurance
providers
• Privacy or usage of nonmedical genetic information
• Third-party transfer of genetic information without
consent
Expand GINA to include:
• Non-discrimination for life insurance and long-term
care insurance
• Ban unauthorized third-party transfer of genetic
information like HIPAA does for medical information
• Ongoing informed consent as outlined below
Ongoing Consent
• Ongoing need for updated medical
information require ongoing informed consent
• Implement fines for enforcement
• Participants have the right to opt out at any
point, but it is their responsibility to do so
Reciprocal system of contact and consent:
• Yearly contact with the database participants
informing them of the categories of studies being
done
• Allow the researchers to update participant
medical information, incentivizing researchers to
keep track of the participants
• Strikes a prudent balance between research
needs and ethical concerns
Proposed Reciprocal System
of Informed Consent
Participants
Information
About Types
of Studies
*Updated
Medical
Records
*Ability to
Opt Out
Researchers