Genetics Flashcards
What are characteristics of people at high risk for hereditary cancer?
- Cancer in 2+ close relative on same side of family
- Early age at diagnosis (earlier than average age, usually before age 50)
- Bilateral/multiple cancers
- Multiple rare cancers
- Multiple primary tumors (breast and ovary, colon and uterus)
- Evidence of autosomal dominant transmission (GENE is autosomal dominant, NOT the phenotype)
What are some benefits of genetic testing?
- Identify disease or non-disease states/risks
- Identify at-risk family members
What are some limitations of genetic testing?
- Expensive!
- Limited family structure (if there are few female family members in the family history (ie father has 3 brothers and no sisters), you would have limited genetic information)
- Must interpret all results in the context of family history
What is the general recommendation for genetic testing of minors?
Testing for adult-onset cancer predisposition is not generally recommended unless it will alter management
You would also worry about insurance discrimination later in life (GINA doesn’t protect life insurance, long term care, or disability insurance)
What are some elements of informed consent/genetic counseling?
- Discuss syndrome, genes to be tested, associated risk
- Discuss possible results and implications
- Discuss options to assess risk w/o testing
- Discuss implications for family members (importance of sharing info)
- Discuss accuracy of test
- Discuss cost
- Discuss psychological implications
- Discuss genetic discrimination risks
- Discuss options/limitations of test
- Discuss follow-up plan
Define the 4 bioethical principles.
- Beneficence- traditionally understood as the “first principle” of morality; the dictum to “do good and avoid evil”
- Non-maleficence- “first to do no harm”; considered corollary of beneficence, difficulty with rigorist interpretation = makes action almost impossible in a world where best actions may have some harmful results (may be better to think of it as doing no evil)
- Autonomy- based upon intrinsic value of each individual, their capacities, their point of view, represents individual’s personal rule of self, remaining free from controlling interferences that prevent the making of meaningful choices (includes truth telling, confidentiality, informed consent
- Justice- fairness in care-giving (eg. Organ transplant, genetic testing, access to health care)
What is currently suggested regarding duty to warn?
Current legal climate generally places duty to protect patient confidentiality ABOVE a duty to warn others w/ whom you have no professional relationship
You have a duty to warn if:
- You have a professional relationship w/ the person who may cause harm or the potential victim AND
- The person at risk is identifiable (not just a generic set of relatives) AND
- The harm is foreseeable and serious (not just a theoretical/abstract harm that might happen at some point
What is GINA?
Genetic Information Nondiscrimination Act, 2008- provides individuals with federal protections against genetic discrimination in health insurance and employment
- NOTE: GINA does NOT protect information about current health status or apply to life, disability, or long-term care insurance
