Genetic screening for cancer

Question 1

Role of genetic counselling

Answer 1

process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease.

Question 2

Counselling process

Answer 2

Interpretation of the family and medical history to assess the chance of disease occurrence or recurrence. Education about inheritance, testing, management, prevention, resources, and research. Counselling to promote informed choices and adaption to the risk or condition

Question 3

Genetic testing types

Answer 3

Diagnostic (to confirm a suspicion based on signs and symptoms) and predictive (detect risk)

Question 4

Genetic testing for Breast cancer

Answer 4

BRCA 1 and 2 are the only ones so far. 3 results: positive (clearly has mutation), non-informative (haven’t found anything but still could be another gene), variant (benign change, or unknown significance). Site specific on BRCA1 - positive is high risk, negative is average risk

Question 5

Cancer risk for BRCA1/2 carriers

Answer 5

Female carriers have much higher chance of breast or ovarian cancer. For males, BRCA2 carriers have higher risk of prostate cancer and slight risk for male breast cancer

Question 6

Screening for BRCA

Answer 6

Breast cancer: self exam, physician exam, mammogram, MRI. Ovarian: pelvic exam and ultrasound (lots of false positives?). Prostate: digital rectal exam after 50

Question 7

Prevention for BRCA carriers

Answer 7

Bilateral mastectomies, remove ovaries (reduce breast cancer too if before menopause), chemoprevention (tamoxifen)

Question 8

Pros and cons of genetic counselling etc

Answer 8

Pros: help make medical decision, empowerment, info for family members. Cons: doesn’t predict future, worry, discrimination (insurance)

Question 9

Ethical dilemmas

Answer 9

Right to know vs. right not to know; Duty to warn vs. confidentiality; Testing minors; Adoption issues (let the child know that he/she could be carrier); Duty to re-contact