Genetic Counseling

Question 1

what happens in genetic counseling

Answer 1

• communication to understand and adapt to the genetic component of health conditions
• interpretation of family and medical hx to assess disease occurrence and recurrence
• education about inheritance
• counseling to promote informed choices and adaptation to the risk or condition

Question 2

the leading cause of mortality and morbidity in the ph

Answer 2

breast ca

Question 3

what is the nicca law

Answer 3

ra 11215: national integrated cancer control act of 2019

Question 4

objectives of nicca law

Answer 4

read

Question 5

red flags associated with hereditary ca: multiple cancers

Answer 5

a combination of cancers on the same side of the family

• > 2 breast/ ovarian/ prostate/ pancreatic (hereditary breast and ovarian ca)
• > 2 colorectal, endometrial, ovarian, gastric, pancreatic, other ca (lynch sydrome)
• > 2 melanoma or pancreatic

Question 6

red flags associated with hereditary ca: young ca

Answer 6

any 1 of the following at less/= 50 yo

• breast
• crc
• endometrial

Question 7

red flags associated with hereditary ca: rare ca

Answer 7

any 1 at any age

• ovarian ca
• breast: male or triple negative
• crc with abnormal msi/ihc, msi associated histology
• endometrial ca with abnormal msi-ihc
• > /= 10 gi polyps adenomatous type

Question 8

pre test counseling in the development of ca

Answer 8

• 1: normal cells
• 2: cell becomes mutated
• 3: mutated cell rapidly divides
• 4: growth of new blood vessels forming invasive tumor
• 5: metastases

Question 9

t/f mutation equates to having cancer

Answer 9

false, mutations INCREASE THE CHANCE OF HAVING CANCER

Question 10

causes of cancer

Answer 10

• hereditary 5-10% (present in every generation)
• familial ca 10-25% (clustering that may or may not be due to a particular gene, can be environmental)
• sporadic 60-75% (lifestyle, radiation, carcinogens)

Question 11

most common pattern of inheritance for cancer

Answer 11

autosomal dominant

Question 12

what is somatic testing

Answer 12

• identified mutations in the tumor itself
• performed on tumor tissue
• patient has cancer
• ordered by oncologist and patient does not consent

Question 13

purpose of somatic testing

Answer 13

to identify treatment options or determine prognosis

Question 14

what is germline testing

Answer 14

• identifies mutations you were born with
• samples taken from body
• patient may be unaffected
• ordered by genetic counselors and pts consent

Question 15

purpose of germline testing

Answer 15

• identify pts with inherited ca predisposition syndromes

- can be used to determine treatment in some cases

Question 16

purpose of post test counseling

Answer 16

• give information on what patients should do with the result
• tell pt how the result can help him/her with management
• needed when patients undergo hereditary testing

Question 17

possible results of genetic test

Answer 17

• pathogenic variant detected or positive result
• no pathogenic variant detected or negative result
• variant of uncertain significance

Question 18

result when mutation is detected in the genes known to cause cancer

Answer 18

pathogenic variant detected or positive result

Question 19

result when no detected mutation in the genes known to cause cancer

Answer 19

no pathogenic variant detected or negative result

• does not mean patient has no mutation
• only cancer related mutations are tested

Question 20

result: mutation where more testing needs to be done

Answer 20

variant of uncertain significance

- lacks evidence if mutation can cause cancer

Question 21

main benefits of hereditary genetic testing

Answer 21

• precision oncology: getting exact medication for mutation

- testing of at-risk family members

Question 22

t/f if vus is present in a patient that already has cancer, that patient has a poor prognosis

Answer 22

true