I’m thrilled to be joined by Dena Goldberg, also known as “Dena DNA,” the founder of Malibu Genetics. Dena is a board-certified genetic counselor with a passion for helping fertility patients understand the role of genetics and hereditary disease in their family-building journey. In this episode, we dive into her background, her inspiration for starting Malibu Genetics, and her unique perspective as both a professional and a patient navigating fertility treatments.
Our conversation explores the many ways genetics impacts fertility, from carrier screening to proactive testing for adult-onset conditions. Dena shares her expertise on the different types of genetic counselors, the importance of comprehensive family history, and how genetic testing can empower patients to make informed decisions. We also discuss the challenges patients face in accessing testing, the evolving landscape of genetic counseling, and practical steps for self-advocacy in reproductive care.
In this episode, we cover:
- The different specialties within genetic counseling and how they support patients at every stage of life
- Why carrier screening is essential for all fertility patients, regardless of family history or ancestry
- The difference between consumer DNA tests (like 23andMe) and medical-grade genetic testing
- The significance of proactive genetic testing for adult-onset conditions and how it can impact IVF and pregnancy care
- How pre-implantation genetic testing (PGT-M) can help prevent passing on hereditary diseases
- The importance of comprehensive family history and the limitations of standard questionnaires
- Practical advice for advocating for yourself and accessing genetic counseling, even when insurance coverage is limited
Resources:
- Malibu Genetics: https://malibugenetics.com
- Dena DNA on TikTok: https://www.tiktok.com/@denadna
- Dena DNA on Instagram: https://www.instagram.com/dena.dna/
- Dena DNA on Facebook:https://www.facebook.com/DenaTalksDNA
- Dena DNA on YouTube: https://www.youtube.com/@denadna
Full Transcript:
Dr. Aimee: I am delighted to have Dena Goldberg on today’s show. Welcome, Dena.
Dena Goldberg: Thank you so much for having me.
Dr. Aimee: It sounds like you knew you wanted to be a genetic counselor from a very young age. Tell us more about your history.
Dena Goldberg: I knew I wanted to work with genetics since I was really young because of my little sister, and my parents are both doctors, so I knew I’d be doing something in this area. I originally wanted to work with families who had a child with a disability like my sister’s and help them get connected to resources.
I was doing research in cancer and then went on to grad school. It just so happened that the way everything worked out, I got this amazing position at UCSF and I became really interested in helping all sorts of people with their cancer risk. Genetic testing in the medical clinic is sometimes siloed, so I decided to open Malibu Genetics. I’m glad you think it sounds lovely because I wanted it to be more of this luxury concierge service to be able to help one individual with all of their genetic testing needs at once, instead of just focusing on one specialty at a time.
I had decided to do that, and at the same time, I was going through my own fertility treatments. I’m still on this long journey. I realized after going to a bunch of consultations that not everyone is like you and asks about family history. I have seen countless patients who actually have a hereditary syndrome that would affect them later on in life that they were not aware of and that was not really asked about in fertility consultations, so they went on and did IVF. If they had known about these syndromes, they could have done something like PGT-M, which I’m sure we’re going to talk about later.
That to me felt like there was this missed opportunity to really help a lot of people understand what genetic testing needs to be done before they go through this journey. That’s what inspired me to start working with fertility patients as well, because I think there is a lot of emphasis on embryo genetics and on different prenatal genetics, but we don’t talk a lot about adult-onset conditions and how that can affect IVF.
Dr. Aimee: I love what you’re doing. Thank you for educating my patients, because we have a lot in common. Thank you so much.
What are the different types of genetic counselors?
Dena Goldberg: A genetic counselor is a master’s trained professional who then gets board certified, and we are trained in all areas of genetics, meaning from pre-birth through death. There are genetic counselors that can help you at every step.
When I say pre-birth, that’s preconception, so planning a pregnancy, family planning. Then there is prenatal, which is once someone is already pregnant. Then there’s pediatric, which is when a child is born or when a child develops some sort of disease and needs help getting a diagnosis or resources. Then there are adult-onset conditions like cancer, cardiology, neurology. There’s all these areas as an adult that you can have a risk, we can find the risk and figure out how to lower it.
So, there are genetic counselors that work in all of those specialties.
Dr. Aimee: Why should someone see one?
Dena Goldberg: The main reason usually is because someone has a personal or family history of a disease and they want to understand if it is something that runs in their family or that they can pass on, but there’s a lot of other reasons, too.
For instance, a prenatal genetic counselor may see people who have abnormal ultrasound findings or who are worried about the way that some exposure may affect a developing fetus. Then there’s also this new area that I’m really interested in, which is more proactive genetic testing. Not everyone knows their family history. Some people are adopted, some people were donor-conceived, some people’s families just don’t talk about health issues. So, there is this new category of proactive genetic testing that is looking at some of the most common hereditary conditions and helping people understand if they have one of those, because family history doesn’t always tell us everything.
Dr. Aimee: Some tests that people do as consumers would be things that people assume might test for everything and they don’t need to do more. I’m referring to tests like 23andMe, for example. I see a patient and say to do screening, and they’re like, “I did 23andMe and I’m fine.” Does that screen for what patients need to know?
Dena Goldberg: Great question. That is literally the most common thing that I get asked. The answer simply is no, not at all. The technology that is used in a test like 23andMe is called snip testing, and it’s really only looking at very specific bookmarks on very random genes.
When we’re doing health testing, it’s really important that we understand if our genes are functioning. We know a lot about a handful of genes. When we talk about carrier screening, you need to do sequencing, you need to be looking at the genes, you need to be looking at all of the areas we know can have mutations and not just random bookmarks. There’s a lot that is left out and there will be a lot that gets missed from 23andMe. It is not at all a carrier screening and should never be used to make medical decisions. Anything that is positive should be confirmed with a medical test.
Short answer, no, it is not a medical test in any way.
Dr. Aimee: Okay. Let’s now get into what fertility patients should know, for anyone wanting to grow their family. What is hereditary disease and when do parents need to be concerned about it?
Dena Goldberg: The first thing that most fertility clinics are testing for, and they really should all be testing for this, are the recessive diseases. We think of these as invisible in a family history because a lot of times you are a silent carrier, you carry a condition and you don’t know that you carry it until you have a child with somebody else who also carries that condition, and then you both pass down nonfunctioning copies of those genes. Typically, those people won’t have a family history. Because of that, everyone should be at least offered carrier screening.
It should be a pan-ethnic panel. It used to be that we would test people based on what their reported ancestry was, but what we’re finding is that a lot of people don’t really know their ancestry, and you can have one ancestry and test positive for something that’s more common in a different ancestry. A bigger panel that includes everybody’s ancestry is the carrier screening.
What we don’t always think about when we’re doing family planning is a condition that is also invisible that may affect us later in life. When we talk about things like cancer risk, heart disease risk, early dementia risk, all of those things may not have affected you until you are done with reproduction, when you’re done with family planning. If we can find those things before you actually have children, while you’re going through this process or before you go through this process, then we can take steps to weed those things out.
Additionally, those things may affect the way we treat a person who is pregnant. We may find that they have some sort of cardiovascular disease that was unknown because they have the genetic mutation, but they didn’t have symptoms yet. It actually could alter the way that we would treat them during pregnancy, or even during an IVF egg retrieval or transfer. So, not only is it helpful for the patient, but it’s helpful for weeding it out in future generations.
Dr. Aimee: What is a monogenic disorder?
Dena Goldberg: A monogenic disorder is a condition that is caused by a single gene change. When we talk about genetic testing, it’s easy to look for something if we know a cause. If there is a genetic change, we know that there is a high correlation with disease for that change. Versus polygenic, which is when multiple genes work together and individually have small risk but add up. That’s more complex and we’re still learning about that, and that testing is fairly new. With monogenetic or single gene disorders, there’s a lot that we can do and that we understand with those conditions.
Dr. Aimee: How common are they?
Dena Goldberg: Very common. At least when we’re talking about these adult-onset proactive conditions, it is more common than 1 in every 16 people, just given that one study, and that’s only looking at really common conditions. When we add in rare conditions, they’re probably a lot more common.
Dr. Aimee: What can we do when we know someone has one of these monogenic conditions?
Dena Goldberg: That’s where preimplantation genetic testing for monogenic conditions comes in. If somebody has a good amount of embryos, or they’re deciding on which embryo to transfer, or they really just don’t want to pass down their condition, they can select embryos that do not carry that condition.
I want to clarify, because people always ask me, “Is it genetic engineering? Are you engineering my embryos?” No. This is just embryo selection. It’s embryos that are already made, that are already yours, that are natural, and then we’re selecting the ones that do not carry the condition. These conditions don’t skip generations, so once it doesn’t get passed down, it can’t go on to future generations, so you stop the line right there.
Dr. Aimee: One of the most common questions I get is can you make sure my embryo doesn’t have autism. What is that when it comes to genetics?
Dena Goldberg: Autism is actually a description of a constellation of symptoms. It’s not an underlying condition in and of itself. When we think of autism, we think of the spectrum. They have different sets of behaviors. There are hundreds to thousands of genetic causes of autism. There are a lot we can catch when we do different types of genetic testing, and then there are some we can’t because we just don’t understand.
It’s multifactorial, meaning that many of these cases are probably caused by a combination of genetics and environment, nature and nurture together. It’s not always testable when we think about genetic testing, but there are a good amount of cases that we can catch when we do genetic testing.
Dr. Aimee: I think what you’re referring to, for example, is Fragile X or some chromosomal abnormality that you can pick up.
Dena Goldberg: Yes. Many chromosomal abnormalities can have autism as their phenotype or as a symptom in a way, but not all of them will. There can be the same person who has the same chromosome abnormality or genetic condition, and one may be diagnosed with autism and the other may not. It’s not exact. We’re learning a lot now, and I think in the future we’ll have more information. We at least know that chromosome abnormalities are a big cause.
Dr. Aimee: How does someone know if they have one of those diseases that you mentioned?
Dena Goldberg: That’s where this proactive testing comes in. First of all, most people who have these will have some sort of family history, but there are still people that don’t or that don’t know their family history. We now have this technology to be able to test people for these really common and very severe hereditary conditions for a very low price. Sometimes if there is family history, we can get it covered by insurance. If there isn’t or if someone doesn’t fit criteria, it’s usually no more than $250 or $350 for one of these very good medical panels.
What I recommend is seeing a genetic counselor right before you go through family planning and asking for them to determine if there is something based on family history that needs to be tested. Then you can also ask for proactive testing as well.
Dr. Aimee: I’m glad you brought that up because I have the Y of my TUSHY method. For those who don’t know what that is, it’s my five steps to get to a fertility diagnosis and the Y is “your genetics.” I don’t think that I have been discussing the proactive type of testing often enough. How common is it that someone would have something that they would find on a panel like this?
Dena Goldberg: One of the labs quotes that they’ve found that 1 in every 16 adults has one of these conditions, which is really high.
For something, just to give an example, and this is a syndrome that I know you do assess for, Lynch syndrome, the most common hereditary cancer syndrome. We know that 1 in 279 people have that syndrome and only a few percent are aware of it, so there’s 90-something percent of people who have Lynch syndrome walking around and they don’t realize it.
I’ve seen patients go through the whole IVF process, have a bunch of kids, and then find out they have it. Had they known earlier and had enough embryos to do PGT-M, they could have selected embryos that didn’t have this mutation, therefore ending it there and not passing it down.
That’s just an example of one of the syndromes, but there are a whole bunch.
Dr. Aimee: Is there a point at which fertility patients should consider stepping up to advocate for themselves to have more testing, or what other steps can they take?
Dena Goldberg: It can be really helpful to see a genetic counselor who does this. Most prenatal genetic counselors will also do pre-conceptional appointments where they take a detailed family history, and at that point, a patient can ask for a proactive test as well. It’s actually very new. This testing wasn’t around a few years ago. Not only is this going to be helpful now, but the number of genes on it will increase in the future. The availability of it and the clinical action plan that would change because of these genes will be different as time goes on.
If somebody is going to undergo or are already going through IVF, asking to see a genetic counselor or finding a prenatal genetic counselor to talk about this with before they go through the process can be really helpful.
Dr. Aimee: I find sometimes patients who are in, let’s say, a large HMO network, they go to a genetic counselor hoping that by seeing the genetic counselor then the testing will get covered, but the genetic counselor has a checklist and they say you don’t quite qualify for testing, we’re not going to cover it. That, for me, gets a little frustrating because I’m hoping that people don’t have to pay for it. I think you mentioned the price point for some of these tests, and it seems like it’s reasonable.
Dena Goldberg: It is. It’s only a few hundred dollars. If you think about all of the costs with IVF, it’s actually a really small cost compared to what you’re paying to be on this journey. There are some systems that have very strict criteria, but if you ask and you say, “I really want this testing, and I don’t mind paying out of pocket,” that’s the type of self-advocating that can be really helpful.
Dr. Aimee: If you had a magic Dena DNA wand and you could just wave it over all of the fertility clinics in the world, how would you change things?
Dena Goldberg: Number one, I think all fertility clinics should have a genetic counselor or somebody who is trained in taking a comprehensive family history. Sometimes the only family history that gets taken is on the questionnaire. These questionnaires are long and people don’t always fill everything out, or they don’t always take the time to ask their family members this information. What I’ve found when I’m doing a session is that oftentimes people left things out or forgot things on the questionnaire. To only rely on this questionnaire, it’s going to miss some people.
If I had this idealistic system, it would be having somebody do more of a comprehensive family history, offering an extra proactive panel for people that may not know their family history, or just for anybody that is interested in it. I think that we would catch a lot more of these single gene adult-onset conditions that way and then be able to act on them.
Dr. Aimee: What about egg and sperm banks? I think if anyone takes something that is a little bit more limited, sometimes I see that happening with fresh egg donors, they’re not getting an extensive family history done. Some agencies are definitely working with great genetic counselors, but not everybody. How do you think things could be better from that standpoint?
Dena Goldberg: I love the agencies that do work with genetic counselors, because I know a lot of my colleagues that work for these companies and organizations, they do a pretty good family history. I know, because I’ve talked to some of the sperm banks and donor banks, that they feel if they do too much genetic testing it will weed everyone out. To me, that kind of freaks me out as a patient. I would want as much information as I can get. Not everybody does, but I would.
I think it would be to be in touch with the donor themselves, because you could test the embryo for conditions, but you probably wouldn’t want to screen these embryos for all of these conditions. It’s easier to test the donor themselves. To stay in touch with the donor and either offer a lot of this testing up front or if somebody asks for it, the availability for them to undergo this testing so that the recipient can have that peace of mind.
Dr. Aimee: What about for patients who are using a donated embryo, are there any special considerations for testing for them?
Dena Goldberg: I absolutely think that they should be able to ask the agency that is connecting them to the donor for, at the very minimum, carrier screening, but also to make sure that family history was taken and to make sure that if there was a family history taken and there is anything suspicious that they were tested for whatever, like heart disease or a neurological condition. That’s the very minimum.
I think maybe in the future as this testing gets more available, maybe they’ll start to do these proactive panels just to screen everybody that is going through it because these are significant syndromes that we can test for.
Dr. Aimee: I offer proactive testing to all of my patients that are using fresh egg donors because they’re accessible, they’re available, and I can do that testing. Otherwise, it’s very hard to do. But that is a good point. For people who are using donated embryo, if the donating family is available, maybe that’s something that people should be asking as well.
Dena, I love what you’re doing. I love your message. I love how passionate you are about genetics. Clearly, we are on the same page about being passionate about what we do and love doing it. If someone would like to work with you, where can they find Malibu Genetics?
Dena Goldberg: It’s MalibuGenetics.com. I can see any patients in the state of California and also in several other states, and I’m working on getting licensure in even more states. If you go to MalibuGenetics.com, you can check to see if I can see you depending on what state you’re in. I do mostly telemedicine, meaning using Zoom to see patients, but I also offer house calls if you’re in the Los Angeles area.
Dr. Aimee: What is the pre-IVF genetic counseling and testing package?
Dena Goldberg: The first thing is making sure that they’ve had adequate carrier screening. The second thing is doing a family history of both the person giving the sperm and the person giving the egg. Then if there is anything suspicious, doing a diagnostic test to see if there is something running in their family. If there isn’t something suspicious, or even if there is, also offering that proactive panel. So, it’s this holistic view of things that are actionable that the person themselves may not be affected with but that we can use that knowledge to inform their care and their testing once they go through the IVF process.
Dr. Aimee: That brings me to this question. If someone doesn’t have a doctor that is going to offer these tests to them, can they do them through you?
Dena Goldberg: If I am licensed in their state and can see them, then absolutely. That’s what the pre-IVF package is, and I’m happy to work with patients on that.
Dr. Aimee: That’s excellent. That’s great to know. That is super, that people who want to advocate for themselves and maybe aren’t getting the response that they need or want from their medical team, then they can go to you as their genetic counselor to help them with all of this information.
Dena Goldberg: Absolutely. I am a big fan of being your own self-advocate because, unfortunately, you need to be. In our healthcare system, actually in any healthcare system, you’re the one that’s going to look out the most for you. If somebody is self-advocating, I am just their biggest cheerleader.
Dr. Aimee: People can also watch you on TikTok.
Dena Goldberg: Yes. Outside of Malibu Genetics, I also am Dena DNA. I like to teach people about genetics, genetic testing, and genetic counseling in a way that is really fun. You can follow me on TikTok @DenaDNA. I’m also on Instagram, Facebook, and YouTube. I have a little YouTube series where I do my own animation, I animate these concepts because I’m a very visual learner.
Dr. Aimee: Thank you again, Dena, for coming on and sharing your passion for genetics and for changing the world for each patient, one patient at a time. Thank you again.
