Genetic results and confusing surgical consent

Mmesamom

Hi there! I am waiting on results of genetic testing. I was told two weeks but my appointment last Thursday (two weeks) was cancelled because the results hadn't come in. This Wednesday I received a phone call saying that genetic results were talking a long time and that hopefully would be back by Tuesday.

we are waiting for the results because if it is positive, I will have a bilateral and if it's negative I will have oncoplastic surgery.

Today I got consent papers from the plastic surgeon saying that i was giving consent for a bilateral reconstruction with expanders.

My questions: does a longer genetic test result mean positive results? Will the surgeon send out the papers for insurance reasons or any other reason besides that being the surgical plan? Will I be able to get through this without losing my mind?

ksusan

No, don't worry. It means that it sometimes takes longer, which can have nothing to do with you. For example, it could have been a busy week at the lab. Mine took a month.

Yes, you will get through this without losing your mind, but it will sometimes feel like you're losing your mind!

IF results come back such that you're only doing a unilateral, talk with your surgeon about writing NOT THIS BREAST in Sharpie on the one that you'd be leaving alone, just in case the bilateral order is still in the system and confuses anyone. I wouldn't even bring this up except that my order was for unilateral, which changed to bilateral, but the lab only sent over the pre-surgical dye needed for one breast (meaning that documentation for the final treatment decision may lag behind).

Deep breaths!

BarredOwl

Hi:

Question 1: I agree with Ksusan.

Question 2: I would try very hard to avoid signing that document at this time, if possible. It is an invitation for medical error. Please call the surgeon's office and ask by when do they need a consent from you, and if you can wait to sign the appropriate consent until after the genetic test results are in, because you have NOT finalized your decision at this time. If they say they need it now, ask why.

BarredOwl

[Edited to Add: I am not sure how you could be expected to sign an "informed consent" when you are undecided about the proposed surgery, and you do not have the critical piece of information you need to decide. This would be a terrible practice, so I think there must be some misunderstanding, and someone jumped the gun. If you receive any pressure to sign, please refuse, and ask them to have the surgeon call you directly.]

radgal

I was told that the genetic testing results would take two weeks as well. The labs with do these tests are in another state and the test itself takes time to interpret.

I would refrain from judging what the test results are based on the length of time it has been.

I would also refrain from signing anything until you have the test results in your hand since they are such an influencing factor on your decisions.

Sam2U

1. No longer time to process genetic testing doesn't equal positive results(mine took 3 months with negative results)

2. No idea why he would send out those papers, but I wouldn't consent until you know the plan

3. YES you will get through this without losing your mind

Mmesamom

thank you guys so much! I'm so lost sometimes. This waiting is awful! But I'm determined not to panic and am trying to go one step at a time!

Mmesamom

ok so the results came back negative except for the ATM gene. Anyone have experience with that?

BarredOwl

Hi Mmesamom:

I am sorry you did not receive completely negative results. I have only had BRCA testing and was negative for that, but I met with a Genetic Counselor to understand my results and any limitations in the information, etc.

Will you be meeting with a Genetic Counselor to review the results of your test? If not, please consider obtaining a referral to one.

Keep in mind that all changes in a particular gene are not created equal:

• Some genetic changes are referred to as "deleterious" or "pathogenic" mutations. Different deleterious or pathogenic mutations in the same gene may confer different levels of risk for cancer or other conditions.

• Some genetic variation in genes is normal (blue versus brown eye color), and these changes are sometimes referred to as "polymorphisms". There may be evidence that a particular change does not appear to confer increased risks, based on clinical studies of families that carry that specific polymorphism. There can be caveats to such studies, and the amount and quality of the evidence can affect the interpretation and strength of the conclusions. In some cases, new information might become available which modifies current understanding.

• The risk associated with some genetic changes is unknown ("Variants of Unknown Significance", also referred to as "VUS"). Such genetic changes have not been adequately characterized. So the associated risk could be near 0%, or some intermediate level, or near the highest level associated with other known pathogenic mutations. It is not known.

I have read that there can be differences in how "VUS" and "polymorphisms" are defined by different testing services. Thus, the wording of the definitions for these terms provided in your report controls. Request a copy of your reports. In addition, some test providers may have more information than others about the significance of a particular mutation.

A Genetic Counselor should be up to date on the scientific literature about ATM variants, methods of genetic and familial risk assessment, and the applicable consensus guidelines regarding possible enhanced screening and/or risk reduction measures. The National Comprehensive Cancer Center (NCCN) Guidelines do address ATM, but several guidelines are implicated.

I think a specialist is preferable to advise you concretely about what is known (and unknown) about the possible risks you face based on the specific genetic change found, your family history, and your existing breast cancer diagnosis. A counselor can also help you understand the limitations of any screening program, and provide advice regarding your personalized risk/benefit from suitable risk reduction strategies, if any (e.g., by what percent is risk decreased by doing X).

Medical management recommendations for a particular patient may appropriately differ from consensus guidelines. You may wish to ask what the guidelines recommend in a case such as yours. Then, if you receive a different recommendation, ask what factors support the different recommendation in your case. Your personal risk tolerance will be a part of the decision-making process.

Please note that I am just a layperson. There may be errors in my understanding or the information provided above.

BarredOwl