Colorectal Cancer Screening Ethics

Question 1

What are the two general tools of clinical genomics?

Answer 1

family histories and genetic testing on physical samples

Question 2

What are some situations in which you would do diagnostic genomic testing on the patient?

Answer 2

1. CRC at age 50 or less
2. synchronous CRC and other HNPCC tumors
3. 10+ adenomatous CRC polyps or 3-5 juvenile polyps
4. CRC with a first-degree relative with a Lynch Syndrome-related tumor

Question 3

True or false: lynch syndrome testing is only if there is a family history or diagnosis at a young age?

Answer 3

false - it’s offered to anyone whose tumors are diagnosed as some form of CRC (regardless of family history or age)

Question 4

What percentage of CRC are from a a familial syndrome involving a gene mutaions conferring high lifetime risk?

Answer 4

only 5-10%

Question 5

What are 3 things you should think about before suggesting predictive genetic counseling?

Answer 5

1. having the info should reduce morbidity and mrotality
2. should have options for effective prevention, screening and treamtne
3. the predictive power of the test - depends on penetrance

Question 6

Under what circumstances should you consider predictive genetic counseling for someone?

Answer 6

1. if they have a 1st degree relative with known gene mutation
2. if the pattern of cacners in a lineage suggests a syndrome
3. if they have a relative with early-onset diagnosis
4. when there are reproductive decision concerns

Question 7

What are some family history considerations that should make you very worried?

Answer 7

1. three+ closely related family members with lynch syndrome cancers (path confirmations!)
2. two successive generations with cancer
3. at least one person diagnosed under 50
4. clustering of extra-colonic cancers

Question 8

What are some extra-colonic cancers associated with lynch syndrome?

Answer 8

endometrium, gastric, breast and thyroid

Question 9

For genetic testing, who is always tested first?

Answer 9

the proband

Question 10

If there is no mutation int he proband, the test is considered….

Answer 10

uninformative

Question 11

If the proband gene mutation test is positive and the other family member’s test are positives, what is the rusults considered as?

Answer 11

true positives

Question 12

What are the beneficence considerations for genetic testing in CRC?

Answer 12

1. knowledge is power
2. planning for life
3. medical planning for risk management and clinical screening

Question 13

What are the non-maleficence considerations for genetic testing in CRC?

Answer 13

1. privacy/confidentiatliy - who has access to results?
2. emotional trauma
3. family/social hamr
4. Will it develop at all and when? - gets penetrance
5. Damage form on-going multi-organ screening

Question 14

What are the autonomy considerations for genetic testing in CRC?

Answer 14

1. Who decides who tells the family?
2. Can minors be tested?
3. Informed consent considerations like risks, benfits, effectiveness, and alternatives

Question 15

Why is the age of consent to testing especially important in CRC?

Answer 15

FAP in particular will ikely present before a patient turns 18, so deciding whether to test them in a timly fashion to avoid further complications is important

Question 16

What are the justice considerations for genetic testing in CRC?

Answer 16

1. cost of test with counseling
2. insurance and employment discrimination (GINA law)
3. Is it appropriate to test for a disease in which there is limited pre-symptomatic screening?