Genetic Testing During Fertility Preservation Helps Patients ‘Stay in Control’ of Health


Cancer survivors may be able to consider cancer-causing genes when undergoing fertility preservation.

Fertility preservation is possible for patients with cancer, and they may even be able to gain insight into potential inherited cancer risks of embryos, explained Zameena M. Lakhani, a genetic counselor and instructor for the fertility and reproductive endocrinology center at Northwestern Medicine, in an interview with CURE®.

How patients use the information — or if they want the information at all — is completely up to them, Lakhani emphasized, so finding a team of clinicians who is on the same page can be key.

In a recent interview with CURE®, Lakhani discussed the current process of genetic testing and fertility preservation, and what patients need to know about it.

Can you give a brief overview of the fertility preservation process for patients with cancer?

Generally, if a patient is diagnosed with a cancer that requires treatment or surgery that would affect their fertility, they can choose to do preservation of their fertility.

So for individuals assigned male at birth, that would include sperm preservation, which could happen in the form of manual release, or also in the form of extractions surgically, if necessary, for other reasons. Oocyte cryopreservation is also an option for individuals assigned female at birth, and that tends to be more invasive. It’s a surgical option where (clinicians) can extract the eggs and ultimately have them frozen for use later in life. Some people at that time will choose to freeze eggs or embryos.

We usually have an expedited egg-retrieval process for those patients (with cancer) — they meet with a physician, they’ll talk through their options, make up a plan, are they freezing eggs, or embryos and then kind of go from there. So that that can be done in advance of their cancer treatment, which is typically time-sensitive.

For patients with a genetic mutation that is associated with their cancers are there protocols or anything that needs to be taken into consideration when it comes to embryo or egg selection?

So generally, we can test for those genes, but it’s not always a guarantee. The different labs require different approaches and different mutations might have a different technical approach for it. So, if a patient is choosing to freeze eggs, it’s usually something that they can discuss later, when they get to the stage of making embryos. The testing is only done on embryos, not on eggs. So, if they’re freezing eggs, I usually would not see them as a genetic.

If somebody is freezing embryos, though, then we’ll typically have them come in and see me and we’ll talk about what are the risks to their embryos. Most cancer genes have a 50% risk of their dominant conditions, although there are some exceptions to that.

We would also want to make sure that if there are any recessive risks associated with their gene that we do any testing needed for their partner. So BRCA2 is a great example of this, where if someone were to inherit two copies of a BRCA2 mutation that would lead to Fanconi anemia and have very different early-onset childhood risks than what we typically think of as being associated with BRCA2, and so I would want to test that patient’s reproductive partner for that gene as well. Once we kind of have all the information we need, we go through pre-implantation testing for monogenic conditions, and we work with a third-party lab that will essentially design a custom test to that family using their genetic markers. Usually, we asked for samples from the couple, so the individual providing the egg and the individual providing the sperm.

We also ask, typically, for samples from the parents of the individual who have the genetic mutation. Not all parents are available, and so there often are workarounds, like having genetic test reports from the affected parent, or maybe someone else on that family member’s side. But we use all of that information to build this test, and eventually that test is going to be what’s used to test the embryos and screen them to say this embryo was very low risk, or very high risk for whatever cancer gene we’re looking for.

Is this done every time a patient has a cancer-related mutation, or should patients advocate for these tests to be conducted?

I think that that would vary from institution to institution. At our institution, it’s pretty commonplace because we do have a genetic service built into our reproductive endocrinology clinic. That’s not the case that a lot of centers around the country, so I think it’s definitely something that patients can advocate for, if that’s something they’re interested in testing.

Genetic testing for embryos is not something that is wanted by all patients, and that’s also totally a valid approach. And not every patient who tests their embryos is going to exclude positive embryos. So, everybody uses this information in a different way. But certainly, that’s the purpose of genetic information, to get people information that they can use for building their families in whatever way they feel would be helpful. So, I think it’s something that certainly patients can keep in mind to ask for.

Is there anything else that you want to mention, or you feel that patients and their families should know about this topic?

Everybody’s decisions are going to be different, and (patients should) really be advocating for value-based decisions. If you find yourself in a situation where maybe you’re feeling like it’s not your decision, I would just remind patients that really it is their decision, and they should feel comfortable and confident in their care team helping them get to that point.

I also think that it’s really important to maintain family records for people, I know that it can be really hard to talk about cancer within families. There’s a little bit of broken telephone going on. Everybody doesn’t want to always disclose things that are happening to them. But finding someone within your family who can really act as a historian and kind of keep everyone’s test records, keep like a family tree — those things can be really helpful when you go to get testing.

Having family history information can be helpful in your risk assessment, particularly if testing comes back negative, because a negative test result doesn’t always mean that your cancer risk is absent or reduced or the same as the general population, you can still have an increased cancer risk based on your family history alone. And so, you know, thinking about yourself staying in control of your own health, documenting as much as you possibly can, making sure you have as much information as possible. It’s your decision every step of the way, whether you get the testing and kind of what you do with that.

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