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29 Cards in this Set
- Front
- Back
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Importance of Genetics and Medicine
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all diseases are now seen to have genetic components
all of us (even seemingly healthy people) have around 50 severly glitched genes all physicians myst be ready to explain statistical risk to healthy patients that want to stay well ethical issues in genomic medicine |
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Human Genome Project
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findings: 3 billion bp, less than 5% found in genes
smallest - 1 KB largest - 2,400 KB humans around 30,000 genes, but only 1/2 have known funtions gene dense regions rich in G and C gene poor regions rich in A and T AT and GC regions can be seen as banded regions genes are found in concentrated areas 2% codes for proteins 50% is repeat sequences Y chromosome has fewest genes chromosome 1 has the most genes |
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What do the BP's mean?
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variation, person to person is less that 1%
just a few hundred thousand BP's account for all our visible differences even fewer numbers involved in disease risk variations are being catalogued 10-20 years, we wil be able to identify hereditary factors for most diseases |
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Clinical Applications
Diagnostics |
several hundred tests already available in clinical uses
the list is growing medicine is progressing to become more preventative cancer susceptibillity screening are going to be apart of the near future reproductive screenings will be able to diagnose disease earlier |
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Clinical Applications
Pharmacogenomics |
effort to identify why people dont respond the same way to medications
which drugs will work for who leading to safer treatments |
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Clinical Applications
Gene Therapy |
fix the broken gene
very risky in trials gene delivery has proved to be very difficult used viruses as vectors, but can cause systemic inflammatory reactions, leading to organ failure safe practice of this is very far in the distance |
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Clinical Applications
Designer Drugs |
drugs individually designed to bring system back into balance
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CML
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Philadelphia chromo (9 and 22) discovered in 1960's
fusion of ABL and BCR this fusion protein causes transformation of WBC to malignant cells ST 1571 (gleevec) blocks action of this drug - and 30 terminal patients went into complete remission |
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Ethical Issues
Genetic Discrimination |
health insurance cancelled
fired from work, because of high risk adoption/military problems |
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GINA
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genetic information nondiscrimination act
passed by Bush prevents health insurance and employment discrimination |
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ethical Issues
Psychological Impact and Stigmatization |
how does personal genetic information affect the perception of self and society?
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Ethical Issues
Privacy and Confidentiality |
who owns and controls this info?
who will have access? |
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Ethical Issues
Oversight and Regulation |
when should tests be made available, and who determines this (market)?
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Ethical Issues
Timing |
Is this ready to be implimented into standard health care
most doctors have little training on genetics and statistics |
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Ethical Issues
Directions of Research |
which diseases to focus on?
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Ethical Issues
Ownership |
who owns the genome?
who owns the HGP? Who will profit? |
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Ethical Issues
Acess |
who will benefit?
what will be done about unequal access? |
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Ethical issues
Informed consent |
information repressents risk and probability
patients must understand tests have limitations should parents be able to test their children for adult diseases |
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Ethical Issues
Genetic Determinism |
affects concepts of free will and personal responsibility if we have a gene described for every behavior
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Ethical Issues
Gene transfer |
to fix defective genes
and enhance and improve normal traits line between normal and abnormal blurs who decides on procedure? are all disabilities diseases? |
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Ethical issues
Trait Enhancement |
designer babies
tay sachs is already factored in for couples at high risk, why not obesity/atheticism/hair color? where do we draw the line in England, you can create babies to save the life of a sibling |
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Summary of Genetics and Medicine
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HGP has raised several ethical issues that need to be addressed
physicians myst gain competence in medical genomics and ethics |
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Medical Errors
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inevitable
preperation improves probability of effective compassionate response errors are under-reported due to litigation, reputation, or self justification |
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Causes of Medical errors
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Lapse in Judgment
systemic flaws flawed treatment plans inadequate information |
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Cost of Errors
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trust is sabotaged by current climate
finacial costs are in the billions annually |
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Physicians are obligated to disclose errors
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AMA code of Medical Ethics 8.12
obligated by full disclosure |
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effective communication
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creates good context for discussion
maintain eye contact be direct and honest be prepared for reactions give patient a chance to ask questions emphasize your continued support |
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Institutional policies on reporting errors
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they differ
some states mandate reporting some states have no-fault insurance, to incourage reporting |
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Enhancing patient safety
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by reporting errors:
it increases quality of epidemiological data provides opportunities for system changes enhances patient doctor trust through being transparent |
