Dr. Aimee invites board-certified genetic counselor Natalie Richeimer to discuss the crucial intersection of genetic counseling, IVF, and cancer. Natalie explains the role of genetic counselors in the fertility space, particularly how they assist patients in understanding their risk for genetic conditions stemming from family history, personal health, or ethnicity.
Dr. Aimee and Natalie talk about the important work done by JScreen, an organization providing accessible genetic testing for cancer and carrier screening. The conversation highlights the importance of understanding whether cancer is hereditary or sporadic, the implications of genetic predispositions, and how early genetic testing can impact fertility planning and treatment options.
Natalie shares insights on the different types of genetic tests available, including those for embryos, and emphasizes the evolving nature and expanding role of genetic testing in family planning. They also discuss common misconceptions about genetic testing, especially among patients with a family history of cancer, and offer practical advice on how to access genetic counseling and testing through JScreen.
In this episode, Natalie and I talk about:
- The role of a genetic counselor in your fertility journey.
- How getting a cancer diagnosis might affect one’s approach to their fertility.
- Whether genetic screening like 23&Me is sufficient, and why. (Spoiler: it’s not!)
- Why having this kind of knowledge about your genes is always a positive.
- Who should consider genetic testing for fertility, and when.
- How family history does and doesn’t play into your unique case.
Resources:
JScreen’s website
JScreen on Instagram
Full Transcript:
Dr. Aimee: I thought it would be great to bring on a genetic counselor. Her name is Natalie Richeimer, and she’s from JScreen. She’s very passionate about educating people about their genetic risk factors and she’s very passionate about the IVF patient population also because of her own personal journey. Oftentimes, I get questions from patients about does IVF cause breast cancer. Thanks, Natalie, for joining us today.
Natalie Richeimer: Thank you for having me.
Dr. Aimee: I want to talk about how a cancer diagnosis can impact a fertility journey. Obviously, for me, I consider this an emergency condition. I literally drop everything for my patients with a cancer diagnosis and help them. As a genetic counselor, what’s your role when someone has that diagnosis?
Natalie Richeimer: For us, it’s kind of two-pronged. On the one hand, we have to think about fertility because that is, especially when we’re dealing with certain types of cancer, something that needs to happen quickly. If somebody has an ovarian cancer diagnosis and we’re working with weeks before we start chemo, we need to be helping guide them to someone like Dr. Aimee to help them through their journey.
Another thing as a genetic counselor that we’re going to be doing is figuring out if that cancer is something sporadic, meaning something that just happens due to lifestyle, diet, environment, or is it something that’s hereditary. About 20% of cancers are due to genetic change that someone is born with that puts them at a higher chance for cancer than the regular population. Understanding if they are having this cancer because of a purely genetic reason is going to be hugely important in making sure we can test future babies or embryos with Dr. Aimee, and she’ll talk about that.
It also can be really helpful in directing treatment. Specifically with breast cancer, not all breast cancer treatments are the same. Depending on the type of breast cancer, we’re going to treat it differently if there’s a genetic predisposition, if there’s a gene change that’s putting them at that risk for cancer.
The third thing is that it’s going to change how we screen things. It’s going to change how we think about their future. I like to think a lot about something, a very famous gene that a lot of people know about, the BRCA 1 and 2. Someone may come down with breast cancer from that, but they may end up in Dr. Aimee’s office not because they’re getting chemo right away but because they’re now at an increased risk for something like ovarian cancer and they may have to be planning their families a little bit faster or sooner than they had anticipated without this cancer predisposition.
There’s a lot of different levels of how I as a genetic counselor get involved. My job is really to make sure they’re getting to people like you, to make sure they’re getting to the right care specialists like oncologists, making sure they’re understanding what they should be doing next in their journey.
Dr. Aimee: A cancer gene diagnosis, if you have that diagnosis of a high risk gene, for me that’s a fertility-threatening condition because you’re never too young to get cancer when you have a gene like that. That’s why I always say the more you know, the better things will go. I’m sure as a genetic counselor you face situations where sometimes people are afraid to find out the information. Do you find that nowadays that has kind of changed with people, in our society are more open to finding out?
Natalie Richeimer: There are people who love knowledge. I am the information seeker in my family, I love it. I have family members who are like, “Oh my god, I would never want to know that. Who would ever do that?” I think a lot of the patients, by the time they start their fertility journey, they are more information seeking because they’re already in a little bit of a different headspace.
Cancer for so many people is a very scary word. I would say whenever I talk to people, there’s none of us who don’t know someone that has been through cancer at one time or another. That comes with a lot of trauma. What I say to my patients or people who I’m talking to that are thinking about it is you were born with this genetic change, really your choices are just if you want to do something to reduce your risk of cancer, if you want to make sure that you’re able to plan your family without interruptions. That’s the person’s choice.
I think when people reframe it that way, “I have this whether I choose to find out or not,” it really changes that. So many people will do things differently. I’m a mommy of two boys. I think back to my early 20s, all the things we would have done differently if we knew what was coming up later. That’s what I say to people, this is giving you a crystal ball. It’s up to you if you want to take it, but it’s a crystal ball.
Dr. Aimee: Right. Then you can screen embryos through IVF with a technology called PGTM where we can test embryos for the gene, should you want to prevent it from being passed on into your family. You can screen for genes like BRCA 1 and 2, for Lynch Syndrome, almost any gene that you’re positive for that could increase risk of a genetic cancer, you can test your embryos for.
What about people who, let’s say, are unaffected with cancer, should they also consider hereditary cancer genetic testing, or for people who don’t have it in their family? What is your position on that, who should be doing this type of testing?
Natalie Richeimer: I will say we’ve come such a long way in genetics and we’re going to come even further in the next ten years. It used to be like the secret menu at Starbuck’s, only some people were offered genetic testing. We were realizing more and more that cancer is the second leading cause of death in the United States, it’s incredibly prevalent. We used to think it’s only a tiny subset of people that have a gene change that’s really putting them at risk. The more we’re learning, the more we’re realizing actually there’s a lot more going on.
I like to say to people if this is something that you want to do, especially if you’re going into the space of IVF, if you’re going into the space of IVF, there’s a chance that it could stop with you. Your babies could be at a decreased risk. You could do that. I definitely would say it’s worth a conversation.
I would say having no family history of cancer is not the same as having an unknown family history. What do I mean? I mean people who have been adopted, or people who are like, “I don’t have much to do with mom and dad’s family, they’re way out in a different country. They’re in South America and we have nothing to do with them.” We may not know about all of their family histories. I still think it’s a very worthwhile thing to do.
The flip to that is people who have serious family histories who are often gaslit sometimes in a medical setting. Like, “Your dad and your grandpa and your brother had prostate cancer, but you’re somebody who doesn’t have a prostate, you don’t need to get testing.” What I will say is that cancer looks different in different bodies. Maybe you don’t have a prostate, but sometimes prostate cancer can put people at an increased risk for breast cancer or other cancers.
So, I definitely think people should be getting the information. I think we’re moving to a place in medical genetics where this is going to start becoming open to the population, meaning open to everyone.
The other thing I want to talk about is certain ethnic groups. Even if you don’t have a family history, we know there is an increased chance or risk for having a genetic change. A famous example is people who have Ashkenazi Jewish ancestry. That doesn’t mean that both your parents were Ashkenazi. It could mean Grandma was Ashkenazi or Grandpa. You’re at a ten times greater risk of carrying a genetic change in BRCA 1 and 2 compared to the general population. The carrier chances in the Ashkenazi community are one in 40. In the general population, they’re one in 400.
Depending on your ethnicity, and there are specific things in specific ethnicities, you should have a chat about that. If we want to take care of our health and our cancer risk, you should be definitely thinking about that.
Dr. Aimee: I offer this testing even to my egg freezing patients. Like you said, if you had family members with cancer, oftentimes I’ll tell patients who have a type of insurance, let’s say an HMO that won’t cover it, I’ll encourage them to go to their doctor to see if they can get coverage for the testing. I would say almost always they’re told that they don’t “qualify” for it. That’s why I was really glad that you were available to talk to us about this today, because that’s where JScreen comes in. Tell us about JScreen and how people can get tested, and how special and important it is for people to know about it.
Natalie Richeimer: This happens all the time. People don’t meet guidelines. We have specific guidelines in cancer societies called NCCN, and insurance companies will use that to disqualify as many people as possible. Insurance companies don’t really want to pay for things. It’s really unfortunate, but that’s the reality.
The other thing, and this is a huge hurdle, is that you have to have a doctor order it. For some of us, we don’t have PCPs that are comfortable ordering it, or maybe we don’t have a PCP. You and I are both in California. Maybe you’re in Kaiser and they won’t do it for you, and you don’t have anything you can go out of network.
JScreen is something that’s focused on access. It’s available to anybody. What they essentially do is you can order the test online. It’s a spit kit, it comes to your house. I get this question all the time; Is spit the same as blood? If you do it right, it’s the same.
Dr. Aimee: Don’t eat. Don’t chew gum. Don’t brush your teeth. Don’t wear lipstick.
Natalie Richeimer: It’s for 30 minutes of your life, and then you can do all those fun things again. The spit is just as good. It comes straight to your house. You pay $49 upfront, that’s just a registration fee that we have. People with insurance typically will get coverage, so some people will only pay $49. Let’s say you have an HMO, you have Kaiser, or you have zero insurance whatsoever. The max out-of-pocket you will pay, including that registration fee, is $298.
The testing tests for 48 genes that we know put people at an increased chance or risk for cancers. It’s not just breast cancer. Breast cancer is something we’re talking about, but it screens for other cancers like prostate cancer, colon cancer, ovarian cancer, gastric cancer, and a lot of other things, a lot of other cancers. It’s really comprehensive.
My favorite part is that after you get the results, you might be like, “What do I do with that?” That’s the scary part. Your testing includes meeting with a genetic counselor just like me who goes over all of the results, tells you what you should be doing with that, who in the family should be getting tested next, and how it might impact your fertility journey. That makes you a more informed patient when you’re meeting with an REI like Dr. Aimee, to have a really great conversation about what to do with this. “I spoke with my genetic counselor. I know I should be doing PGTM. If I’m doing PGTM and I’m selecting embryos, and I only get affected embryos, I should be going with male versus female embryos because the risk is lower.”
Having that education, making yourself an informed fertility patient will just make your treatment so much better and so much more tailored to you.
Dr. Aimee: Do you ever get the question, “I did 23&Me. Isn’t that enough?” I knew you would because I do too.
Natalie Richeimer: I get it all the time. I want to talk about 23&Me. 23&Me is the fun Christmas gift that we all want. We want to know if we have some interesting ancestries, Native American, African American, Nigerian. That’s cool, and I love that. I think that’s great. It is not medical grade testing.
When I talk about genes, I want you all to think of genes are just a giant paragraph of instructions. What we do at JScreen and what we do with our partner lab Myriad is we literally read through the instructions, we do a spellcheck, and we check for missing and extra words. That way we’re making sure in all ways that this is a gene that should be working. If it’s not working, we say that puts you at an increased risk for cancer.
There are hundreds of mutations in the BRCA 1 and 2 genes. I use that as an example. They test for three. I have people who come to me and say, “But I tested for BRCA 1 and 2 with 23&Me, and I’m okay, I’m good, it came back negative.” I said you tested for three, but there are hundreds more that you didn’t test for.
Besides them not testing for enough, it’s also not medical grade testing. We don’t know if the testing they’re doing is actually up to snuff laboratory-wise. With information like this, which is life saving, you want to make sure that you are getting the best information. We’re all about the cars we drive and the manicures we get. We should be about the testing we get. Quality matters.
Dr. Aimee: Thank you, Natalie, for joining me today and talking about such an important topic. Is there anything else that you want to share?
Natalie Richeimer: I think the biggest thing is that people are going to watch this and people are going to have questions. Reach out to us if you have questions.
Also, understand that the scary part is testing and thinking that you could be positive. I also tell people the flip. You might be totally negative, yay. That’s something you can go into your fertility journey knowing that you’ve crossed that off. Most of the people that I speak to who have done testing have been so satisfied with it. The people who haven’t, a lot of times they find out later that they could have done testing. Speak to the people you need to speak to. Be your best advocate.
I see so many interesting comments, people who are starting to follow should read that. Genetic testing is amazing, as you can see.
If you are a fertility patient, this is my biggest thing because I’ve been through this myself, you are spending so much time and money to meet with an expert like Dr. Aimee, make sure you’re doing as much testing as possible so that you can have that tailored fit fertility journey.
Dr. Aimee: For patients who, for example, aren’t necessarily being told what’s available to them, you can talk to a genetic counselor and find out more about your family history, how to do a pedigree with them, and I’m sure offering appropriate testing.
Natalie Richeimer: Yes. I will say the one thing that I’ve encountered, and I had a patient who came to me… I’m going to tell you a little anecdotal story, if that’s okay.
Dr. Aimee: Yes, please.
Natalie Richeimer: A patient came to me, and this is a family friend, so we know each other. She really advocated for herself a lot. Her dad had prostate cancer. Her grandfather had prostate cancer. Her uncle had pancreatic cancer. Her auntie had colon cancer twice. This is a strong family history of cancer. On top of that, she’s Ashkenazi Jewish with four grandparents. She plucked up the courage, went up to her PCP and said, “I’d like cancer genetic testing.” Her doctor said, “You don’t have breast cancer in your family, so you won’t benefit from this testing.”
She felt really discouraged and came to me just to check, “Am I wrong? Should I not be able to get testing?” I was like you’re not wrong, your doctor might just not know about that. If you feel like your doctor isn’t understanding, JScreen takes away a hurdle for that. Anybody can order, even without a strong family history, even without your doctor signing their stamp of approval if they don’t feel comfortable. I want to let people know you’re your best advocate, you know your body the best. If this is something that you feel passionate about, you should be able to have access to that testing. Everyone should.
Dr. Aimee: Sometimes I have patients that come in and they have a parent that had breast cancer, for example, and I’ll always ask, “Would you like screening?” They’ll say, “My mom did screening, so I’m fine.” When I hear that, I think but things have changed, the panels are bigger, your mom may not have had all of the screening. How do you address that?
Natalie Richeimer: I feel the same way. First of all, as a provider, I always say, “Can I see the testing?”
Dr. Aimee: Yes.
Natalie Richeimer: Sometimes what they think they were screened for is actually different. They didn’t have genetic screening, they tested germline screening where they’re looking at the genes, they tested the tumor. That’s a different kind of testing. So, I want to see the screening.
I will say for me, the testing from five years ago is leaps and bounds behind what we’re doing now, and it will continue to update and change. We’re getting better. Our panels, which is the amount of genes we’re testing for, are getting bigger. We’re learning more. I would highly recommend, especially if there’s a family history of cancer and it’s strong and nothing came up, you should definitely revisit testing. I know that’s not what people want to hear, but it really is the best thing to be doing.
Like I said, we talked about 23&Me, sometimes that testing was 23&Me, so making sure not only if the testing was good but if it was comprehensive. Again, our methods are getting better, we’re getting better. When people tell me, “My grandma had testing,” we don’t have records for that. “It was genetic.” I’ve heard that so many times. I’ve had people with really strong histories of ovarian cancer, “They tested genes and they said it wasn’t genetic.” Sometimes what doctors are seeing, or what patients are hearing, are not necessarily correlated to the testing we have. I would highly recommend, I always do a plug for reproductive screening. If you did carrier screening ten years ago and you’re doing IVF, do a new panel, it’s completely different.
Dr. Aimee: Yes. Our panels 15 years ago were like ten genes. Now they’re like 600.
Natalie Richeimer: Yes. It’s crazy. We’ve come a long way, and we’re going to keep coming longer. I’m excited to be part of that journey.
Dr. Aimee: Thank you so much, Natalie, for joining me today. I’m sure people will be reaching out to JScreen to get screened. I hope we help at least one person by doing this call.
Natalie Richeimer: Of course. If anyone has questions for myself, feel free to DM us. We would love to help you.Dr. Aimee: Awesome. Thank you again. Have a great night. Talk to you soon.
