Tues April 5th- Review

Question 1

What percent of cancer is hereditary?

Answer 1

5-10%

Question 2

what about famillal?

Answer 2

20%

Question 3

and sporadic?

Answer 3

70%

Question 4

Difference between famillal and hereditary?

Answer 4

Herediatary you can pin point to a mutation in a gene causing it but famillal, you can’t point to a single gene.

Ex. Lung cancer when you’re exposed to smoking in a household that smokes. Carcinogen *

Question 5

Name some indications of hereditary cancer?

Answer 5

MARY acronym **

Question 6

T or F, having a hereditary form of cancer does NOT increase your rate of occurance.

Answer 6

True

Question 7

what are some very rare cancers?

Answer 7

• ovarian
• pancreatic
• male breast cancer

Question 8

what are the possible germline test results “variant classifications”

Answer 8

Can be broken down to pathogenic/ likely pathogenic. Can also be detected as positive/negative.

Question 9

T or F, A VUS will likely jump to pathogenic or likely benign on the report.

Answer 9

True

Question 10

We are NOT allowed to give ammended reports directly to patients, T or F?

Answer 10

True

Question 11

if gene DX reclassifies a variant, what happens?

Answer 11

Gene DX, let’s tempus know with patients listed that it could effect and then tempus informs the clinician.

Question 12

How often does reclassification happen?

Answer 12

most labs will do a review of the database every 6-12 months to see about new VUS’s out there.

Question 13

What’s the purpose of hereditary cancer testing?

Answer 13

• medical management of a patient whoe does not yet have cancer and even the patient that does. We can use this to aid in treatment plans. Some gene mutations will leave to therapy options.
• this can also help the family members when it comes to knowing their risks and getting tested on a routine basis.
• psychological benefit to knowing why cancer arose in the family. psychological benefits.

Question 14

How many genes are on xG?

Answer 14

52 (associated with common hereditary)

Question 15

how many genes are on the xT incidental germline panel?

Answer 15

65

Question 16

how many genes on xG+?

Answer 16

88

Question 17

if a patient has an incidetnal germline finding on EGFR, we cannot test for that. T or F?

Answer 17

True

Question 18

what is included on xG+ ?

Answer 18

All the germlines on the incidental germline findings list.

Question 19

Which 6 common hereditary cancer subtypes do the 52 genes of xG cover?

Answer 19

• Breast
• Pancreatic
• Rectal
• Ovarian
• Prostate
• Endometrial (uterine)

Question 20

Explain familial variant testing and how it varies from other testing types:

Answer 20

If a family member has a known variant, a family member can be tested to see if they have that one specific variant. One huge plus: no chance of a VUS. You either have the variant or you don’t. Positive or Negative.

Question 21

if a family member chooses to get tested, as long as it’s 90 days after the result, there is no cost to the other family members, T or F?

Answer 21

True

Question 22

Why might a client order xG vs. xG+?

Answer 22

A doctor may choose this instead because xG+ which will have a bigger VUS panel. With xG, they aren’t left so much int the “grey area” and are targeting a specific cancer they already know about.

Question 23

Why might they choose xG+ over xG?

Answer 23

To test for less common hereditary cancers since this test is more comprehensive. Say a patient is in the “grey area” and wants answers, this would be a good route to go for them.

Question 24

Explain the ordering process for xG/xG+ ?

Answer 24

The test and the kit form will go directly to GeneDX. Always send the test request form to both.

Question 25

Specimen recs for xG:

Answer 25

Cheek swabs or blood for either of those.

Question 26

For xG normal match, can we accept saliva?

Answer 26

Yes

Question 27

What additional info is needed for the form?

Answer 27

• Family history, ancestory
• History of bone marrow transplant
• If they’ve had any genetic testing done (includes if an incidental germline variant was detected and which one it was)

Question 28

Is patient consent needed for this test?

Answer 28

Yes, any time we are reporting out germline findings in one of the 13 states. Always go ahead and get this conest form signed to avoid issues with the report.