Lecture 2 - Health Computing: Pitt CPATH Project

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Oct 23, 2013 (4 years and 17 days ago)

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Genomics and Personalized
Healthcare

Lecture 2

Bailee Ludwig

Quality Management

Outline


The Human Genome Project


Quality & Safety



Genomic Ethics



Genetic Law



Risk Perception and Health Behavior


Scenarios



The Human Genome Project


In the pre
-
module survey, a lot of you asked
about the HGP….


“The Human Genome Project (HGP)[is]an international research
effort to sequence and map all of the genes
-

together known as
the genome
-

of members of our species,
Homo sapiens.

Completed in April 2003, the HGP gave us the ability to, for the
first time, to read nature's complete genetic blueprint for building
a human being.”

HGP Facts


The two genomes of any two people are 99% the
same


The HGP has already aided in the discovery of more
than 1,800 disease genes.


Today’s researchers can find a gene suspected of
causing an inherited disease in a matter of days,
rather than the years it took before


There are now more than 1,000 genetic tests for
human conditions


Risk and Diagnosis



Predicted Benefits of the HGP


Personalized medicine


Drugs that work catered to our genetic
makeup, at your speed, with less side effects


Personalized Disease Detection


Detecting and Preventing disease with your
genome


At least 350 biotechnology
-
based products resulting
from the Human Genome Project are currently in
clinical trials.




How accessible can a person’s
genome really be?


According to the National Human Genome
Research Institute…


…by 2014 sequencing a human
genome could be as cheap as $1,000





With a sequencing a genome so
accessible..it will lead to some
amazing

possibilities…



…but there is also some risk we need
to examine

Quality & Safety

in Genomics

Quality Issues

According to the World Health Organization
(WHO) …



Laboratory regulation and accreditation
measures have
not

kept pace with the
growing demand for genetic tests



The accuracy of complicated laboratory tests
should be met with appropriate quality control
guidelines

Safety


Patient safety


Assuring informed consent



Protecting genetic information



Protecting patients from unjust discrimination

Informed Consent

“Before an individual agrees to participate in a clinical trial,
research project or undergo a genetic test, he or she must
be informed of the test's
purpose
, medical
implications
,
alternatives
, and possible
risks and benefits
. Patients
should additionally be made aware of their
privacy rights
,
including where their DNA will be stored and who will have
access to their personal information.


An informed consent document, requiring the patient's
signature, should articulate all of these details. Even after
signing, the patient may still opt out of the test or study;
the
informed consent document is not a contract


Genome.Gov

Quality


Setting standards



Evaluating performance



Monitoring outcomes of service


Counseling must be administered to inform the
patient of the range of options and possible
outcomes

Why…?


…. Safety & Quality measures need to
be developed concurrently with
advances in genetic testing in order to
protect patients
from misinformation,
and avoidable harm



http://www.who.int/genomics/en/

“I understand and agree that any specimens or
tissues normally removed from my body by
VUMC in the course of any diagnostic
procedures, surgery, or medical treatment
that would otherwise be disposed of may be
retained, used for educational purposes or
research,
including research on the
genetic material (DNA) or other
information
contained in those tissues or
specimens”

Genetic Discrimination


Social Discrimination


Sickle Cell Anemia



Employer Discrimination


Railroad and Carpal Tunnel Syndrome



Insurance Discrimination


Fragile X Syndrome as a preexisting
condition”



http://www.youtube.com/watch
?v=8PYpmKSuwIU

Genetic Discrimination

Change Initiative Project

Privacy & Antidiscrimination Laws


Title VII of the Civil Rights Act of 1964


Genetic Diseases associated with particular
ethnic or racial groups


Rehab. Act of 1973 / Americans w/ Disabilities
Act of 1990


Doesn’t stop an employer from requiring
employees to provide genetic info.


HIPAA


Didn’t protect people who chose private coverage


HIPAA Mandate of 2002


Genetic Info. Non
-
Discrimination Act


Specifically deals with Genetic Info.


Bans insurance companies from denying
health individuals coverage or charging
higher premiums


Prevents employers from using genetic
info.


http://www.youtube.com/watch
?v=z7RbIUmbGsg

Louise Slaughter discusses GINA

Medical Ethics


Nonmaleficence


doing no harm


Preventing unsolicited revelations concerning
genetic info.


Benefcence


doing good


Achieved through the discovery of disease
-
related genes and improved treatments


Justice
-

treating everyone fairly


Avoiding genetic discrimination or
stigmatization

Medical Ethics


Autonomy


respecting the individual’s
right to self determination


Preserving your own genetic information



Utility


doing the most good and the least
harm


Duty to warn


Let’s read some
Duty to Warn
Scenarios….




….what would YOU do?

Would you
want

to
know…?

Risk Perception


The degree to which a person holds the
belief

that he or she is likely to develop a
disease (
actual risk is based on medical and
epidemiological data
)




Those actions that are taken to prevent
disease


Health Behavior

Scenarios


http://www.genome.gov/25019902

Discussion Questions