Elliot: Ethics of CRC

Question 1

What is diagnostic testing?

Answer 1

Establish diagnosis= genetic

Question 2

What is diagnostic testing used for?

Answer 2

Tx choices

family risks

Question 3

What is the purpose of predictive testing?

Answer 3

Risk and surveillance assessment

Question 4

Clinical genomic programs help guide:

Answer 4

diagnoses
pharmacogenomic decisions
risk assessment
family based decision support

Question 5

Who should have particular diagnostic testing?

Answer 5

Based on personal hx:
CRC at 50 yr or less

Synchronous (one then another)/metachronous (all at the same time) CRC or other HNPCC tumors

Polyps (10 or more adenomatous CRC polyps; 3-5 juvenile polyps in CR or multiple throughout GI)

CRC with first-degree relative with Lynch Syndrome-related tumor

Question 6

Tissue based diagnostic testing is recommended for…

Answer 6

” to all people whose tumors are diagnosed as some form of CRC (regardless of family history or age)

genetic testing for Lynch Syndrome be offered

Question 7

What percent of CRC are related at familial clusters?

Answer 7

20%

Question 8

What percent of colon cancers are d/t a highly penetrant gene mutation that confers a high lifetime risk of dx?

Answer 8

5-10%

*importance of family hx

Question 9

When should you consider predictive testing?

Answer 9

1. Having information reduces morbidity and mortality of diagnosis
2. Effective prevention, screening and treatment exist
3. The predictive power of test (depends on penetrance of condition; family history)

Question 10

When is predictive testing recommended?

Answer 10

1st degree relative w/ known GENE mutation!!

PATTERN of cancers in lineage suggesting syndrome (family history/genogram)

Relative with EARLY-onset diagnosis

REPRODUCTIVE decision concerns (pre-natal/pre- implantation)

Question 11

What cancer details are used to make a family genagram?

Answer 11

Three or more closely realted family members w/ LS cancers (path confirmations)

Two successive generations w/ cancers

At least one person diagnosed <50 yrs

*Clustering of extra colonic cancers (endometerium, gastric, breast, thyroid)

Question 12

What is the purpose of predictive genetic testing?

Answer 12

accurate risk assessment

Question 13

What type of test is used for proband testing?

Answer 13

diagnostic test

If mutation found, gene test used to see if others have same mutation (true positives)

If no mutation in proband, test is uninformative for proband–and for others (false negatives)

Question 14

What percent of CRC genetic testing is non-informative?

Answer 14

70%

Question 15

What ethical issues are influenced by genetic testing?

Answer 15

Privacy / confidentiality
Responsibility / Duty to warn
Discrimination based on results of tests 
Genetic testing of minors
Reproductive decision making

(beneficence- do good when we can, non-maleficence- do no harm, autonomy- individual decision making, justice)

Question 16

What is beneficence?

Answer 16

Knowledge is power
Planning for life
Marriage, finances, support, insurance, etc.
Desire for pregnancy (risk to her health too)
Medical planning for risk management and clinical screening

Question 17

What is non-maleficence?

Answer 17

Privacy / confidentiality
Access to results
Can someone demand another have the test?
Emotional trauma
Family/social harm
Will it develop? When? (Penetrance)
On-going (multi-organ) screening

Question 18

What is autonomy?

Answer 18

Husband’s right to know? MD’s duty to warn him?
Other brother’s right to be informed and choose?

Informed Consent:

• Risks, benefits, effectiveness, and alternatives to testing, and THEN agree to be tested
• Age of consent (FAP vs. HNPCC)

Question 19

What is justice?

Answer 19

Costs of test with counseling

Insurance and employment discrimination (GINA Law)

Is it appropriate to test for diseases in which there is limited pre-symptomatic screening?