Scott Webb: As is the case with all cancers, early diagnosis is key. And when it comes to breast cancer, genetic testing for hereditary mutations might be the best option for some women. And joining me today to tell us about genetic testing, who's a good candidate, and the many benefits is Denise Jeffery. She's an adult nurse practitioner, specially trained and certified in breast health exams, with over 20 years of radiation oncology and medical oncology experience.

This is your Wellness Solution, the podcast by Elliot Health System and Southern New Hampshire Health, members of SolutionHealth. I'm Scott Webb. Denise, thanks so much for your time today. We're going to talk about genetic testing and a whole bunch of stuff related to this. As we get rolling here, and this is a really fascinating topic, who should have genetic testing?

Denise Jeffery: Well, the criteria for testing have expanded pretty much yearly. And the criteria has gone from being very restrictive to being much more inclusive. And the criteria were just recently updated probably about a month ago. So, when we're thinking about women that have a diagnosis of breast cancer, a woman at 50 or under, so if she's diagnosed at 50 years of age or under, then that's a recommendation to have testing.

If a woman has two or more breast cancers that are diagnosed, either at the same time or at different times, that would be another reason for genetic testing. And if there are two or more women in the family regardless of age, that is also an indication. There are many indications. Some of the other ones are if a woman has a new diagnosis of breast cancer and is of Ashkenazi Jewish ancestry, then that's a recommendation to do genetic testing because the Ashkenazi Jewish population has a higher prevalence of these mutations than the non-Jewish population. So, for the Jewish population, their risk of having a BRCA1 or 2 mutation is one in 40 versus the non-Jewish population, which is one in about 250.

Another indication for testing would be a diagnosis of what's called a triple-negative breast cancer at any age. So, triple-negative breast cancers are breast cancers that test negative for estrogen, progesterone, and HER2. So, those are the three receptors that all breast cancers are tested for.

Scott Webb: Right.

Denise Jeffery: If a woman has a diagnosis of breast cancer and she also has a family history of men with prostate cancer, if there's pancreatic cancer in the family, ovarian cancer, or male breast cancer, those are all indications to consider doing genetic testing. And then, there's the unaffected women, so women that don't have a diagnosis of breast cancer but have a family history. So, any person who has a family history with a close family member who meets any of the criteria that I just mentioned would also meet the criteria for testing as an unaffected individual.

Scott Webb: Yeah. So, it sounds like lots of different scenarios, lots of indications, so a lot to process. It's great to have your expertise. You mentioned family history there related to this, are most cancers hereditary?

Denise Jeffery: No. In fact, most cancers are sporadic events. Only about five to 10% of all cancers are due to an inherited mutation. We do see cancers that run in families, and these are referred to as familial cancers when a hereditary mutation hasn't been identified. And the majority of all cancers are just sporadic events that are due to environmental and lifestyle factors.

Scott Webb: Yeah, sporadic events, I hadn't heard it put that way before, but that makes sense. And that it definitely feels like what many of them are. So, when folks are trying to decide, women are trying to decide, working with their health care providers, how do you decide which genes to test?

Denise Jeffery: Well, historically, the testing for hereditary mutations was very limited. So, from the standpoint of breast cancer, prior to 2014, we would test for two genes, BRCA1 and BRCA2. So, those are two high-risk breast cancer genes. If the testing for those two genes was negative, we'd essentially be done at that point. But in 2014, a couple of big things happened. The company that did all of the testing for BRCA1 and 2 lost a patent on the BRCA1 and 2 testing, and that opened it up to many other labs.

In addition, the technology changed at that time. That allowed the testing of many genes at the same time. So now, we use these multi-gene panels, and those panels can test for only genes that increase the risk of breast cancer, or we can test for panels that will cover many different hereditary cancer syndromes. And that's more the trend these days, is to test for broader panels.

Scott Webb: Yeah, I see what you mean. And it certainly sounds advantageous both for, you know, those taking care of folks like yourself, but also for all of us, women especially through this lens of breast cancer. So, if a person is diagnosed with a hereditary mutation, is there anything that can be done about that?

Denise Jeffery: Yeah. All genes have specific risks and cancers that they are associated with. So, what happens is that we look at the gene that's found to carry the mutation and the risks associated with that particular gene and make recommendations for management. So, from the standpoint of breast cancer genes, let's say if a woman has a hereditary mutation that increases her risk, then there would be a recommendation to increase surveillance with mammograms alternating with MRI. Depending on the gene, there may also be risks of other cancers, potentially screening for other cancers, and maybe risk-reducing surgeries.

So, the BRCA1 and 2 genes can increase the risk of ovarian cancer as well. So, if a mutation is found in one of those genes, then there's a recommendation to remove the fallopian tubes and ovaries for risk reduction. So, it really just depends on, you know, what gene is found to carry the mutation and the risks associated with that particular gene.

Scott Webb: Yeah, I see what you mean. And I'm wondering, when we think about the diagnosis of a hereditary mutation, if a person is diagnosed with that, does that automatically mean that all family members are at risk?

Denise Jeffery: Well, all first-degree family members will have a 50% chance of inheriting that same mutation, so it would be recommended that all first-degree family members undergo testing. So, if a woman, let's say, has a diagnosis of breast cancer and she's diagnosed with a hereditary mutation, and she has a sister who undergoes testing and her sister tests negative for that same mutation. Then, her sister would be considered at population or average risk for breast cancer. But if her sister tested positive for that mutation, then she's going to have the risks that are associated with that gene.

Scott Webb: Yeah, I see what you mean. This is a lot to take in, but you're doing a great job explaining all of this. I'm wondering if you could just take us through, you know, at least on a sort of layman's terms basis, how is genetic testing done?

Denise Jeffery: It's easy actually. It only requires a tube of blood or saliva sample. Some labs are now using buccal swabs, which is a swab of the inside of your cheek. My preference is generally to do a blood draw, just because there's less likelihood that there'll be a failure of the sample in the lab. So, with saliva samples, there can be many factors that will affect how much DNA is in the saliva. So, if you choose the saliva sample and testing is done, there's a greater possibility that will fail in the lab. Whereas we don't really see that with blood.

Scott Webb: Let's talk a little bit about insurance. We can't talk about anything in health care without usually touching on insurance. Will genetic testing affect our ability to get insurance?

Denise Jeffery: So that's a question that I think many people have and why some people will not come in for genetic testing, even if it's recommended is because they're concerned about insurance. But there's legislation called the GINA Act or the Genetic Information and Non-Discrimination Act, and this is federal legislation that protects people from discrimination by health insurers and employers based on genetic information. So, your health insurer can't say, "Well, they're not going to cover you" or they can't increase your premium. They can't change the plan based on genetic information. But the things that are not protected by this legislation are life insurance, long-term care insurance, and disability insurance. So, for instance, if somebody is diagnosed with a hereditary mutation and wants to purchase life insurance, one of two things would happen: either they wouldn't be offered the life insurance, or it would be at a higher cost, but health insurance is protected.

Scott Webb: So Denise, if I had genetic testing through a direct-to-consumer testing company and no mutation was identified, does that mean that I don't have a genetic mutation?

Denise Jeffery: Possibly. But the direct-to-consumer testing labs, it's not a substitute for testing through a genetics laboratory that specializes in testing for hereditary mutations. And the reason is that direct-to-consumer testing labs test for one specific type of mutation in the gene. And there are several different types of mutations that happen in the genes that can increase someone's risk for developing a cancer. So, testing through a genetic testing lab that tells you that you don't have any mutations really hasn't been comprehensive testing of those genes. So, it's definitely not a substitute.

And the converse is true, also that if a person has testing through a direct-to-consumer testing lab, and the lab tells them that they have a likely pathogenic or a pathogenic mutation in a gene, then that has to be confirmed with a genetics laboratory. For instance, I saw a woman recently who came to me with her results from a direct-to-consumer testing lab that had identified a mutation in a gene. When we did the confirmatory testing through the genetics laboratory, she did not, in fact, have a mutation. And unfortunately, she had been treated before at a different location as if she did have a mutation.

Scott Webb: Oh, I see what you mean. Yeah, I see the complications there. False positives or false negatives or, you know, however, whatever the right way is to put it. I see what you're saying. This has been really interesting. One of the things I love about what I do is learning from experts, and I definitely have from you today. I'll give you an opportunity here as we wrap up. What are your final thoughts and takeaways? You know, when we think about genetics and breast cancer risk and genetic testing in general, what do you most want folks to know?

Denise Jeffery: There are many people that are probably out there with hereditary mutations that are not having testing. We know that we've only probably nationally identified 1% or 2% of the people that carry hereditary mutations that can increase their risk. And so, I would say that, you know, if genetic testing is recommended, at least go to a place where you can get information that is reliable and make a decision about whether or not you want to pursue testing. And this is a rapidly evolving field. There are constant changes to what we know about the risks of certain genes and the cancers that are caused by these genes.

If someone's had genetic testing, I would say it's important to keep in touch with the people who have done their testing to determine whether or not there have been any changes in their recommendations for screening or management, because sometimes genes, the risk of cancers with certain genes can go down and they can actually be taken off of genetic panels, or there can be increases in risks. So, it's important to stay in contact with your genetics professionals or the people that did your testing so that you can make sure that you are being cared for appropriately.

Scott Webb: Yeah. That's just great advice from an expert today. Thank you so much, Denise. You stay well.

Denise Jeffery: Thank you.

Scott Webb: And for more information, go to elliothospital.org/breast health.

If you enjoyed this podcast, please be sure to tell a friend and share it on social media. This is Your Wellness Solution, the podcast by Elliot Health System and Southern New Hampshire Health, members of SolutionHealth. I'm Scott Webb. Stay well, and we'll talk again next time.