Cutting Edge Reproductive Health Genetic Testing for PCOS and More [Podcast] - PCOS Diva

Cutting Edge Reproductive Health Genetic Testing for PCOS and More [Podcast]

PCOS Podcast 75 - Celmatix“Core to making sure that you get the care that you need and deserve is to truly embrace that you are your own advocate for your care and ensuring that you have the right care team who share your commitment to always pushing the envelope and making sure that you’re at the forefront of a better understanding of the technologies, tests, and treatments that can be out in the world and really exploring and understanding the importance of finding that right fit.” -Angie Lee, Chief Product Officer, Celmatix

The Fertilome test is the world’s first multi-gene panel designed specifically to help women understand what their genetic signature may be saying about their reproductive health. It looks at specific markers or variants in your genes associated with common reproductive conditions, including PCOS, endometriosis, Primary Ovarian Insufficiency, and more. These are all conditions that we know can have an effect on fertility and family building in the short and long term. The mission is to give women more complete information so they gain proactive control over their fertility journey. I spoke with two women at the forefront of this new test, Angie Lee and Indrani Chatterjee.

Listen in as we discuss:

  • The Fertilome test and how it works
  • Why the genetic component important
  • The difference between Fertilome’s test and others like 23andMe
  • How the Fertilome test can help with the fertility journey
  • Tips for finding the right doctor and the importance of a good fit
Listeners to the PCOS Diva Podcast can receive the Fertilome genetic test at a reduced price of $499 (originally $950) with the voucher code PCOSDIVA2018 at 

All PCOS Diva podcasts are available on   itunes-button 

Full transcript follows.

Angie Lee, Chief Product Officer, Celmatix
Angie Lee is the chief product officer at Celmatix, where she oversees product, brand, and design. Her expertise in translating complex information into consumer-centered digital products was instrumental in bringing to market the Fertilome test, the world’s first genetic test that helps women understand their risk for developing reproductive conditions, and Polaris, a data analytics platform that helps women manage their fertility proactively. She has an MBA from NYU and a BA from UT Austin.
Indrani Chatterjee, Medical Science Liaison, Celmatix
Indrani is a Medical Science Liaison at Celmatix, serving as a scientific resource for the commercial team. Before Celmatix, she was an academic researcher at the New York University Center for Genomics and Systems Biology, where she studied the global genetic architecture that underlies fertilization and early embryonic development. Indrani has a PhD in genetics and cell biology from Rutgers University.



Full Transcript:

Amy Medling:                    So, if you’ve been a listener of the PCOS Diva podcast, you probably know my fertility story because I talk about it a lot, especially when the topic of increasing your fertility comes up. And that’s something that we’re going to be talking about today. It took me until age 31 when I was suffering with secondary infertility to finally get a PCOS diagnosis, and one of my missions here at PCOS Diva is to help shortcut the journey for other Divas, so that it doesn’t take so long to get a PCOS diagnosis, that you can really start taking control of your fertility journey.

Well, if you’ve been following the PCOS Diva newsletter, you’ll recognize the name of Dr. Rashmi Kudesia. She’s one of my favorite PCOS Diva contributors and I follow her on Twitter. One day I found her retweeting a treat from Celmatix and it really intrigued me. I kind of followed Celmatix and it turns out they have a tool that can really help with the PCOS diagnosis as well as helping you with your fertility journey and it’s called the Fertilome test. I have invited Angie Lee, who’s the Chief Product Officer for Celmatix and Indrani Chatterjee who’s Medical Science liaison to come and tell us more about their really cool test, the Fertilome test. So, welcome Angie and Indrani.

Angie Lee:                           Thank you so much for having us here.

Indrani C.:                           Thank you.

Amy Medling:                    So, I would love it if you explain to listeners what the Fertilome test is, and why it was created and brought to market. What is the benefit?

Angie Lee:                           Right. So the Fertilome test is actually the world’s first multi-gene panel that’s designed specifically to help women understand what their genetic signature may be saying about their reproductive health. What it does is it looks at specific markers or variants in your genes that have been associated with common reproductive conditions, including PCOS, as well as endometriosis, a condition that’s called Primary Ovarian Sufficiency, which is a condition that can lead to early menopause. These are all conditions that we know can have an effect on fertility and family building in the short and long term.

So, the reason why we really felt we need to bring this product to market is because, for a very long time, women have had … It is our argument, in order to have a true understanding of your body and have a true understanding of your health, is that you need to understand your clinical metrics as well the underlying genetic information. And so what we’re so excited about Fertilome is that it’s the first test that allows a woman to really understand what their genes say about their reproductive health and can give them additional information to take more proactive control over their fertility journey.

Amy Medling:                    Okay, so, when you go to meet with a reproductive endocrinologist, they’re gonna give you a whole battery of hormonal tests and so that’s … the reproductive endocrinologist was the one that was actually diagnosed me with PCOS. So, you have your bloodwork and you find out what’s going on with your hormones. Why do you need the genetic component? Or how does that complete the picture for a reproductive endocrinologist to help provide treatment?

Angie Lee:                           That’s a great question. Clinical metrics literally take a snapshot in time, so when you’re going through the diagnostic process and you’re working with your reproductive endocrinologist. They’ll ask you to come in, say, on day three of your cycle to take a bunch of tests. That’s because your body can change throughout that entire month, but also you can imagine it changes throughout your lifetime.

The difference with a genetic test is that the genes you have when you’re born are the same genes you’ll have at 40. So, depending upon when you take that information – so if you’re being diagnosed through a reproductive endocrinologist when you are wanting to explore or get support for your fertility journey – that’s one point in time. There’s also a point in time when, perhaps when you’re 22 years old, you want to know more about what lays ahead, the genes can provide you useful information and give you insights into things that may not be measured today with clinical tests and may be able to give you more time to take greater proactive control of your health of longer term.

Amy Medling:                    So, something that I was told at age 18, I was this freshman or sophomore in college, still had not received a PCOS diagnosis, but was in the clinic because I wasn’t getting my periods and the doctor told me that, just by looking at me and my irregular cycles, “We’re gonna have to jump through hoops one day to get you pregnant.”

Well, that was something that was really scary to hear as an 18-year-old and not that having babies is really the furthest thing from my mind, but sure, I wanted to have them one day and the thought that I could be infertile was really scary. You kind of mentioned, being 22, it would be really great to know, “Well yeah, you have PCOS, but everything else checks out.” And you’re probably, you know, genetically, and know that the fact that your doctor’s telling you it’ll be really difficult for you to have pregnant, maybe that’s not really true. I would have loved to have known that because I ended up having three healthy children.

Angie Lee:                           Well, I mean, to start it, I am so sorry to hear that you had a physician deliver that news in that way. Unfortunately, I think that many instances, we hear this in talking to … In the course of doing research for this project, we’ve spoken to nearly 5,000 women trying to understand their personal fertility journeys because every journey is very personal and unfortunately we hear too often that people may have interactions that really … there’s moments when comments are made insensitively or said too matter-of-factly that don’t show an empathy as to the information – the weight of the information – that you’re actually receiving.

I think you’re right. Having this information has this incredible strength and also there’s incredible responsibility for that. Having that information at the age of 18 or 22 could be incredibly useful because, for example, say you receive information that you may enter into menopause before the age of 40. And that is an incredibly scary piece of information, but on the flip side, if you’re 18 years old and you realize that your timeline is just a little bit different from the average woman’s, then you may just be able to make decisions about your family building plans that are tailored to your own biology.

So, the vast majority of women … We recently conducted a survey of millennial women who are now aging into motherhood and the vast majority of women are planning to start their family in their thirties. What I think is interesting is we are very pro about having a woman design any future that they want and what we, our mission really, is just to make sure they have all of the information about their biology to make a decision and make a plan that fits with their biology, right?

Having that information earlier on actually provides women greater optionality and with more confidence about what they can do in the future to ensure that they can have the family they actually want.

Amy Medling:                    So, women with PCOS – PCOS is a syndrome, it really affects women differently, and I think it also … Because it’s this inflammatory condition and there’s also some thought that it could be an autoimmune condition. So, I think you find women with PCOS often have other issues as well – endometriosis, hypothyroidism, and I’m just wondering if the Fertilome test, what other factors that would identify, besides the early menopause, which I think is incredibly helpful to know, that might be of interest to women listening.

Indrani C.:                           Yeah, so, the Fertilome test can uncover genetic markers that are associated with PCOS, Primary Ovarian Insufficiency, reproductive pregnancy loss are all conditions that can affect fertility. The test itself, by providing a more in depth picture of what may be going on subclinically, can provide physicians and women who are taking the test a lot more insight as to what may be going on and what sorts of treatment options may be available and may help chart the course of their reproductive journeys.

Angie Lee:                           I think the point that you make is a really good one which is sometimes that with conditions like this, there are other factors at play, and a lot of this is still being studied and there’s a lot that still can be understood and so I think, for example, Dr. Kudesia is a wonderful example of a physician who really understands the complexity in the interrelatedness of the different conditions in the human body.

Building on what Indrani just said is that, there’s more to each of us than a simple single diagnosis. In having this information and understanding, “Okay, what are some of the other markers that may have an impact that may point to more information?” can be incredibly powerful. Over time, what we’re going to see is, we’re at the very beginning of precise medicine. We’re bringing genetics into this field in a way that … cancer was revolutionized 20 years ago using this same methodology and we imagine that as we get more granular into the genetics, we start to uncover more about the complexity.

But I do think it’s wonderful that we’re starting now, we’re building awareness around this based on anecdotal experiences and patterns that we’re all seeing in our own bodies and pattern matching with what we are hearing within your own community. It can be incredibly powerful in that way.

Amy Medling:                    So, I suspect that not every reproductive endocrinologist is even familiar with this test, and I think that’s the frustrating thing for so many of us, is that we get all of this information of this wonderful online resources that, gosh, I didn’t have when I was going through this. My second son is 14, so this is like, 15 years ago when I was really struggling. But now we have so many wonderful resources and I can tell you that it’s so frustrating.

At a couple years ago, I was at ASRM – American Society of Reproductive Medicine conference, and I was talking to one of the main researchers for PCOS, and he really dismissed the use of Myo-inositol and D-chiro-inositol as a therapy for PCOS, even though there’s so much supportive research, and it was just so surprising to me that even these really elite academic doctors, they’re not really on the cutting edge in some ways. I guess I’m going on a tangent, but I would imagine that there are doctors out there that don’t even know that the Fertilome test exists so if somebody listening is really intrigued by the test and wants their doctor to be able to integrate that into their care plan or moving forward in their fertility journey. How do you end up identifying a doctor to utilize?

Angie Lee:                           I think what you tackled or you mentioned really is something that I think … In looking at your website, one of the things that really jumped out at me is how wonderful you are about making sure that people feel empowered in having a voice and advocating in looking for the right doctor.

So, you’re right, when you introduce a brand new test or new form of research, there are going to be earlier doctors and going to be those who are a little bit more hesitant to come on new products or new approaches to therapies. I think one is finding a physician who matches your commitment to innovation and making sure that you’re always constantly looking for the next thing.

You bring up a great point. I think so core to making sure that you get the care that you need and deserve is to make sure that you truly embrace the fact that you are your own advocate for your care and ensuring that you have the right care team who share your commitment to always pushing the envelope and making sure that you’re at the forefront of a better understanding that the technologies and the tests that are available to you as well as the treatment that can be out in the world and really exploring and understanding the importance of finding that right fit.

You’re right. It is hard when you launch any new product that, the country is large and there are lots of physicians, but we were also at ASRM, in this past October where we were talking about the Fertilome test, and it was so wonderful to see how many physicians were just flocking to our booth to really talk about the Fertilome test and to learn about how they can incorporate genetics into the treatment of care.

So, there are definitely physicians out there who are eager to learn more about it and you are continuing to or beginning to offer it in their own practices. We’ve set up a website,, where women who are interested in the test can actually locate a doctor near them. Right now, we have about 80 physicians across the country in all the major markets who are offering the test but if there are physicians that patients are working with currently and would like to explore, we also offer tools that enable them to educate their own physicians about the test.

So, if you were working with a physician that you love in a market that we don’t currently have, you can certainly take that information to the physician and then once they express interest, they can reach out to us, and we can take it from there. We’ll handle educating them on the information, on making sure they feel comfortable on the ordering process, and then we also can hold their hand through the counseling piece and even help with the patient counseling at the end when the results are delivered. So, we have created a process around making sure that as many physicians can begin to offer the test as they want.

Amy Medling:                    Yeah, that’s really great, I mean this is so aligned with what I try to teach women, is that you have to be a Diva and advocate for yourself and sometimes enlightening physicians is part of that process.

Angie Lee:                           Absolutely and I think that that’s something that women often in situations like this, when they get push back or if there’s a physician that’s dismissive of a question or a comment, it is a natural reaction to feel like, “Oh wait, they’re the physician, they’re the educated one, and I’m asking a question.” But really, what we know in this day and age is that innovation moves quickly, technology moves quickly, new discoveries move quickly, and you are the best person to really advocate for pushing forth for as much treatment or education or knowledge for yourself because that really should be your number one priority as you’re undergoing the treatment for a condition like PCOS.

Amy Medling:                    Okay, so, this might be sort of a silly question but, so I did the 23andMe profile a while back, and ran it through another third party system to get more intricate data, I guess mined from that 23andMe test, how is the Fertilome test different from that?

Indrani C.:                           Yeah, so, 23andMe basically is based upon self-reported data. It’s a population self-reported data, where as someone taking the tests, you can answer a bunch of questions in your DNA sequence. Fertilome is different in the sense that we develop the tests after several years of very rigorous research so we identified relevant publications that showed associations of reproductive conditions with genes and then finally using very strict statistical criteria, these genes made it to a panel.

So they’re a very specific reproductive diagnosis, so the test is very different because we are looking at just very strong stringent association of reproductive conditions with certain genes. So, that’s how it’s different whereas 23andMe is much broad.

Angie Lee:                           Right yeah, the markers that are on the Fertilome tests are not included on 23andMe, so that information would not actually be revealed in an analysis that’s done through any consumer product today.

Amy Medling:                    Okay. And I wanted to know, what could somebody expect? Is it a saliva test or is it a finger prick?

Angie Lee:                           So, you can either do a saliva test or a blood test. So it’s very easy and depending on whatever your physician prefers to use. And so, the typical process is you go to your doctor, they would order the test, take the sample, either there or you could take home the saliva kit with you, and then they mail it in. 15 days later, the physician would receive the results. The physician would then provide the results to you and then we have genetic counselors on our team who can have a conversation with you about the report itself.

Amy Medling:                    Okay. And if somebody listening, I mean we’re really just scratching the surface here on today’s podcast, what kind of resources do you have on your website and how can somebody learn more about the Fertilome test?

Angie Lee:                           Absolutely. So definitely go to There we have a bunch of educational materials that can actually provide them insight on how the test can be useful at different parts of their reproductive journey, whether you’re 22 and just want to know proactively more about your health, maybe you are at the early stages of diagnosis for PCOS or endometriosis and just want to know that information, down to if you’re currently been trying to conceive and you’re starting to worry in the back of your mind, “Should I go see a doctor?” This information can be helpful in understanding if you have markers. I might suggest you may want to move more aggressively towards care. And then lastly, women who are currently undergoing treatment for IVF, they can use this information to learn more that could help potentially give physicians more information to refine treatment.

So, all of that information can be found on our website as well as ordering information or physician locators so that you can find a physician area and there is a 1-800 number that you can reach out to a customer service. We have set up a specific voucher specifically as a discount for anyone who’s listening in today and if you just mention the code ‘PCOS Diva,’ they’ll be able to send you a voucher that discounts the price significantly of the test.

Amy Medling:                    Oh excellent, thank you so much.

Angie Lee:                           Thank you.

Amy Medling:                    Well, Angie and Indrani, I really appreciate you coming on the podcast today and really letting us know about these innovative treatments that … well, treatments or diagnosis tools that are available for us and we just need to be Divas to really advocate for them.

Angie Lee:                           Absolutely. Well thank you so much for inviting us on, it’s so great to chat with you and we do thank you for all the work that you do in making sure that people feel they have the tools they need to advocate for themselves and really drive forth meaningful change in this area.

Amy Medling:                    Oh well thank you.

Angie Lee:                           Thank you, Amy.

Amy Medling:                    It’s really my pleasure and I love doing these podcasts, it’s just so fun to meet such interesting women like yourself. So,I just want to thank everyone for joining us today on the PCOS Diva Podcast. I hope you enjoyed it as much as I did. If you liked this episode, please don’t forget to subscribe, and if you have a minute and would be willing to leave me a quick review on iTunes, I’d really love to hear from you, and I read every review and really appreciate them. If you think of somebody that might benefit from this podcast, please take a minute to share it with a friend or family member so she can benefit from it too. And lastly, don’t forget to sign up for my free weekly newsletter- lots of great info from myself and guest contributors like Dr. Rashmi Kudesia. Just enter your email on PCOS Diva to get instant access.

This is Amy Medling wishing you good health. I look forward to being with you again soon. Bye-bye.

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