Genetic Counseling Flashcards
what happens in genetic counseling
- 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
the leading cause of mortality and morbidity in the ph
breast ca
what is the nicca law
ra 11215: national integrated cancer control act of 2019
objectives of nicca law
read
red flags associated with hereditary ca: multiple cancers
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
red flags associated with hereditary ca: young ca
any 1 of the following at less/= 50 yo
- breast
- crc
- endometrial
red flags associated with hereditary ca: rare ca
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
pre test counseling in the development of ca
- 1: normal cells
- 2: cell becomes mutated
- 3: mutated cell rapidly divides
- 4: growth of new blood vessels forming invasive tumor
- 5: metastases
t/f mutation equates to having cancer
false, mutations INCREASE THE CHANCE OF HAVING CANCER
causes of cancer
- 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)
most common pattern of inheritance for cancer
autosomal dominant
what is somatic testing
- identified mutations in the tumor itself
- performed on tumor tissue
- patient has cancer
- ordered by oncologist and patient does not consent
purpose of somatic testing
to identify treatment options or determine prognosis
what is germline testing
- identifies mutations you were born with
- samples taken from body
- patient may be unaffected
- ordered by genetic counselors and pts consent
purpose of germline testing
- identify pts with inherited ca predisposition syndromes
- can be used to determine treatment in some cases
purpose of post test counseling
- 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
possible results of genetic test
- pathogenic variant detected or positive result
- no pathogenic variant detected or negative result
- variant of uncertain significance
result when mutation is detected in the genes known to cause cancer
pathogenic variant detected or positive result
result when no detected mutation in the genes known to cause cancer
no pathogenic variant detected or negative result
- does not mean patient has no mutation
- only cancer related mutations are tested
result: mutation where more testing needs to be done
variant of uncertain significance
- lacks evidence if mutation can cause cancer
main benefits of hereditary genetic testing
- precision oncology: getting exact medication for mutation
- testing of at-risk family members
t/f if vus is present in a patient that already has cancer, that patient has a poor prognosis
true
