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#152: Janice Berliner on Brooke's Promise

by Kira Dineen
July 16th 2021

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the practice of genomic counseling and very interpretation is advancing at an incredible pace. The University of british Columbia offers an online flexible graduate certificate for genetic professionals who want to keep up. You will learn to apply the latest methods in clinical bioinformatics, very interpretation and genomic counseling. It's an ideal way to earn cuz while enhancing your genetic counseling practice, learn more via the link in the show notes for this episode or at D. N. A podcast dot com. It's time to defend our title as the best 2020 science and medicine podcast. The podcast award nominations start july 1st 2021. So we need you listeners to get DNA today nominated at podcast awards dot com last year we were against very popular podcast and because of the support we had from you, we ended up winning. So to win again, we need all of you to nominate DNA today in the science and medicine category. So head over to podcast awards dot com. And again select DNA today for the science and medicine category, pause the show. Now I swear it takes 30 seconds to do it. Thank you so much.

How is it that we find ourselves surrounded by such complexity. You're listening or watching DNA today. We are a genetics podcast and radio show. I'm your host, Kristine. I am a certified genetic counselor practicing in the prenatal space on the show. We explore genetics impact on our health through conversation with leaders in genetics experts like genetic counselors, researchers, doctors and patient advocates. My guest today is Janice l Berliner. She is the director of the masters of Science in genetic counseling program at Bay Path University and she's also the author of brooks Promise a novel that we're going to be diving into on this episode. Thank you so much Janice for coming on the show. Thank you for having me. I'm so excited to be here. I'm so excited to have you and for people watching on Youtube. This is a copy of brooks Promise um that I just finished reading and we're going to be talking about the contents of the book and the genetic counseling aspects to it because I don't read a lot of books that even mention genetic counselors, let alone have sessions in the book which I was very excited by.

But I'm spoiling it a little bit. So what is brooks promise about for those that maybe haven't heard of the book yet? Right, well, brooks promise against all odds is a hopeful story about changing expectations, forgiveness, reconciliation. It's about putting your life back together after learning your past is alive Through dreams and flashbacks. We learned that one of the main characters whose name is Julia had been assaulted 30 years ago at summer camp when she was 15 and has no memory of it at all. And now she's older, married has a couple of Children and her son Ryan who's grown up and married, pushes his wife into a pregnancy. She's not sure she's ready to have and they have a beautiful baby girl who has failure to thrive and when they take her for a number of medical evaluations, they find that she has a diagnosis of a devastating hereditary disease. And in the background of all of that era is her. His wife is a defense attorney who was hired to defend a college kid accused of acquaintance rape his case as well as cares pregnancy helped to restore Julia's memories, which ends up revealing a world of secrets that threatens to unravel the entire family.

So, you know, they're all forced to uncover these truths that they don't want to face and discover a past that's going to have life altering consequences for all of them. So, it certainly is a lot of storylines that all kind of line up and and end up coming together in different ways. Um and just have to say that one of the main character, I mean, you have the couple, but one of the characters is named Kira. So that might be confusing during this interview, when I saw that, I was like, oh look at that, I don't see the name, Kira come up a lot. You spell it with a y it's a little bit differently. Um But what inspired you to like sit down and write this novel is this something you've been thinking about for a while. Was this something more related to just recently in life of saying, you know what I'm going to sit down and write a book with genetic counselors. It's funny, a lot of people ask me that and it's not something that I had always dreamed of doing and finally found the time for it just kind of came to me one day. You know, one of my favorite authors is jodi Picoult, who as many of you probably know, wrote a book called My Sister's Keeper, in which she tackled the issue of a couple having a baby for the speech specific purpose of being a stem cell donor to save her sister and the ethical dilemmas.

And that really struck me, and I've actually used that book for book groups of my students. And then my other favorite author is lisa Genova, who right um uses the PhD that she has a neuroscience to make neurologic disorders like Alzheimer's and Huntington's Disease accessible to everyone. Um in her book Still Alice and Inside The O'briens and others really bring these neurologic disorders to life. But in in fiction, in a way that it's accessible. And in fact, on her website, it says that she writes stories that are equally inspired by neuroscience and human spirit. And so a couple of years ago, it occurred to me that I could do the same for genetic disorders. So, you know, as well as I do, that people expect to be expect genetics to be really complicated and assume that they're not going to be able to understand the details. I wanted to make those details accessible and real to the person reading a fiction story. So, in brooks promise the genetic disorder is a metabolic disease in baby Brooke.

And I have another novel coming out soon, where I'm exploring a hereditary cancer syndrome in an adult. And it's great because in this novel books promise you can go through the fertility side of things, you know, a little bit of the prenatal and then the pediatric. And that sounds like the other books covering cancers. You got like 34 ish main areas, their genetic counseling. Um Right, but you might have to write a lot of books if you're gonna include all the specialties. But maybe that's a challenge of giving you there. Um So the first genetic counselor they meet with is a fertility genetic counselor. Um what is discussed in this session? I mean, it's a scene in the book, do we say seen Sir? Books I think We do. I don't know. But you know, it's a chapter it's a part of, you know, going through like um you know, meeting with the fertility genetic counselor. What's the type of content that's covered in that maybe for people that are listening that are like, I didn't even know genetic counselors working fertility. What does that look like? That's what Ryan Aguirre said to each other is what is a genetic counselor.

Why are we here? You know, they made an appointment with a fertility clinic because naturally they were having trouble conceiving. I don't know what else you would and they didn't even know they were seeing the genetic counselor. So, you know, we always experience that with our patients. So I thought that was important to bring up. And so they meet with this genetic counselor who tells them that every couple exploring the option of assisted reproductive technologies in their clinic anyway, meets with the genetic counselor in order to review the couple's medical history is to determine whether there might be any signs of why they're having trouble conceiving and what risks there might be to a baby due to things like maternal illness, medication, exposure or anything that the parents might pass on to the child. It's also to discuss how the couple might feel if they discovered that one or the other was infertile and might need to utilize a sperm or egg donor to conceive the pregnancy and all the emotional ramifications and physical logistics of how that all works. She explains that there are many ways to achieve a pregnancy and offers them carrier screening to provide some extra security for having a healthy baby.

Or at least that's what they go into it thinking right. And so for part of that, you know, they're looking at the fertility treatment options. And there's, you know, some people think, oh, you just go in, you do IVF. But there's a lot of different options when it comes to it. Um and one of them is I ui that they're like focused on um what is I ui for people that don't don't know of that, that's interest uterine insemination. So depending upon what type of fertility issues people are experiencing, they're different processes that can be used. And kira and Ryan decided to start with artificial insemination or in pewter and insemination because it's one of the simpler treatments and is often the first step for couples with unexplained infertility. So if that hadn't worked, perhaps they would have gone to the next somewhat more complicated procedure, but they didn't actually need to right. And sometimes it can take a couple rounds of doing that. Which we also kind of see an experience there, which I thought was really great that it's you know, you see that things are not as straightforward as some people think of like, oh you just, you know, one day you just try and then you're pregnant and that's not always how it happens.

Um show how that affects people psychologically. It can be devastating, particularly for people who have been trying for a really long time. Finally to get there not get their acts together, but finally make the big decision to go for fertility treatments. And then it doesn't necessarily work right away and that can be a major setback psychologically. And even for a marriage it can be really challenging. Yeah, we get to see that play out in brooks promise just the relationship between Ryan and Kieren. The conversations they have, especially with other family members and how they're taking in that information of you know we're doing fertility treatments and you know how does everybody feel about that and you know what are their perspectives on it? How much do they understand about it? And I think it's cool that you also see Ryan and here learning from the genetic counselors this but then you know cure talks to her parents and says okay I'm reiterating this to you and that's something that you know it's genetic counselors were sitting there were like okay do you have what you need to tell say your partner that's not their other family members.

But then we actually get to see a play out in characters which is really cool because for genetic counselors that we don't see that part, we don't see people in their homes explaining it right and we hand them materials to share with their families and we don't know if they ever do it. And so here it did. If you're interested in a career in genetics. I highly recommend checking out kgs. Master in human genetics and genetic counseling program in Claremont California. Kg. I emphasizes inter professional collaboration systematic problem solving this safe efficient and ethical uses of biotechnology and personalized patient care. This is all accomplished through a variety of experiences including rigorous didactic coursework, clinical training research preparation and supplementary activities such as case conferences, Grant rounds, journal clubs and seminars. The K G I program has established affiliations with multiple genetic centers throughout southern California which offer access to tremendous resources for clinical industry and laboratory experiences and provide a culturally dynamic enriching environment for genetic counseling students.

Kg I. Is dedicated to the education of innovative genetic counselor who will serve the needs of individual patients, the health care system and the bioscience industry. You can learn more about the program at K G I dot E D U slash DNA. Today. Again, that's K G I dot E D U slash DNA. Today. Did you know there's a genetic counselor that specializes in offering care to those in the adopted community, Brianne Kirkpatrick co wrote the D. N. A guide for adoptees to provide a resource for those in the adopted community, especially those who are utilizing DNA testing to find biological relatives or seek out medical information. She also started watershed D. N. A. To offer personalized genetic counseling to directly support people in the aftermath of a surprise DNA discovery. You can hear brand share her insight from her book in episode one oh three of DNA today, learn more at watershed Deanna dot com where you can also book your consult today with brand if we fast forward to as we've been saying, baby Brooke has failure to thrive, which is a kind of general ish term.

What are some of the signs or symptoms when a baby has failure to thrive? Right. So, like you said, it's really an umbrella term to describe inadequate growth or the inability to maintain growth, which usually occurs in early childhood. It can be a sign of under nutrition and it may be caused by medical problems or factors in the child's environment, such as abuse or neglect or in this case genetic disease. Those that are biological may involve genetic factors such as chromosome abnormalities like down syndrome or single gene disorders, such as those involved with metabolism. As we see in Brooke. And so one of the conditions as they're going through and meeting with, uh, is it a pediatric genetic counselor at that point? Right? Pediatric clinic counselor in a geneticist at different points. Um, so part of the work up with that is they're coming up with different conditions that could be there. So one of those is called pompeii disease. Um, what for those that maybe aren't familiar with pompeii disease? I know we've been talking about like, oh, metabolic conditions, Can you break down what that means?

Sure, pompeii diseases, what's called the glycogen storage disorder. It happens when the body can't make a protein that breaks down a complex sugar called glycogen for energy. So too much sugar builds up and damages the muscles and the organs. So it causes muscle weakness and trouble breathing and in more severe cases, a whole host of other problems that mostly affect the liver heart and muscles and depending upon the type can be very serious. And when it came to figuring out like what disorders um you were going to explore in terms of what the characters were facing, What lead you towards pompeii disease. Was there any experience in genetic counseling that led to that? No, actually not not my own personal genetic counseling or in my work? Um it's actually a pretty funny story. I had initially written it as a different metabolic disorder, which is really um un excitingly named maple syrup urine disease because when a child is affected with this, your intense to smell like maple syrup and that has to do with the metabolites that are building up in the urine.

And when my son was an infant, I noticed that his diaper sometimes smelled like maple syrup and of course he was absolutely fine. But as a genetic counselor, I know it's a real disease and um you know, I just kind of had to make sure, and my son has always been laughing at me that I was just using my genetic knowledge to make up something ridiculous, we know a lot. So we're looking for things and family members. So I was going to use that disorder in the book as an homage to my son, but then I realized that maple syrup urine disease would have been picked up on a newborn screening panel, so that the fact that Brooke hadn't been diagnosed with it right away wasn't particularly realistic. Um So at that point I said, okay, I need to change this to something that would work and then I had to think about newborn screening panels and what they detect and what they don't. And pompeii was one of those that wasn't commonly put on the newborn screening panel at least, you know, a few years ago when I was writing the book.

And then so I changed the whole thing to pompeii. And then in some of my research, I discovered that there is now enzyme replacement therapy for pompeii. And I thought that changes everything again, I'm not rewriting this. So then it hit me, all I had to do was set it back 10 years and it worked. I did notice that and then I started googling, I was like and it takes place in Vermont, right? Um So I was a newborn screening, right? Yes, because I was like, well I'm not familiar with the Vermont newborn screening, I practice in Connecticut and then you know, went to school in new york. So that's what I'm used to and I was like, well maybe it's not on there, like I'm gonna have to ask Janice because you know, I'm going to look at the details, you know, I'm gonna be like what's going on because you know, generally people write about what they know, so, you know, if you read a john Grisham books, his books are always set in Memphis or Jack, like somewhere in the south, that's what he knows. And jodi Picoult sets her books in New Hampshire or that area because that's what she knows. So, I mean I'm from New Jersey, I could have said it here, but then it just, it wouldn't have worked. You had to fact check it, it had to had to be legit.

So the other thing I was thinking about during this was, you know, Kieran Ryan met with a fertility genetic counselor. You know, we mentioned that earlier part of their work up was carrier screening. That's very standard if someone is having fertility treatments that alright, let's cover the carrier screening that way. If we find that a couple as a carrier of the same condition that there's a risk to a pregnancy that they have the option of choosing embryos that didn't inherit that disorder. So I'm kind of thinking, okay, they're carriers, couldn't came back negative. So how is that? They could have a child with an inherited genetic condition where where is almost the loophole for lack of a better term in terms of like having that negative carrier screening, it's a fair question. And Kira and Ryan asked that question as well. And in fact, I like highlighted the book. I was like, Ryan and I are on the same page here. Yeah. You know, he's saying maybe there's a lawsuit going on here, I think he's just reaching for anything that will help him cope with the situation. But the fact of the matter is the carrier screening is not foolproof and that's not necessarily because it has errors.

It's because it doesn't include everything. You know, we can't put everything on a carrier screening panel. There are thousands of different disorders. So much like each year, a group of scientists decides which um particular flu viruses should be included in a flu vaccine. It's kind of the same thing except that it doesn't change too much year to year, but you know, the ones that are deemed more common and severe as newborn illnesses go are the ones that are included and there are thousands of different ones. So deciding what to do, take some finesse. So carrier screening panels cover, like I said, the more likely genetic conditions but can't cover all of them. So, you know, in some of the ones that are more likely to occur in certain populations such as Tay Sachs disease and those of Ashkenazi, jewish descent, um are ordered for those couples where that applies. And so we see for kira that they added the jewish genetic panel onto her testing because she's adopted and she doesn't know what her ethnic background is.

So there's, I mean to say there's guesswork involved is not really fair. It's definitely much more intentional than what guesswork sounds like, but there are definitely things that are not involved in the panel and pompeii diseases. Generally speaking, one of them because it's very rare And it's it's possible to if it was on the panel that they could have a more rare mutation and that it's just not covered on the panel. Especially if I'm thinking the book takes place around 2008, is that right? Kind of in that time zone? So time zone in that area That back then, maybe we weren't sequencing genes as much as now we're kind of leaning towards. So if that was, you know, 13 years ago, I wasn't practicing 13 years ago, but I imagine that we weren't sequencing as much and it was more of looking at the hotspots on Jeans. Okay. Is there any problems here here here and not reading through the whole Jean. Exactly, right. Yeah. It's the same way we used to do genetic testing for, you know, people who are already living with different kinds of disorders.

You could test for them in some way, but you couldn't necessarily rule out all of the mutations that could be possible. And if you couldn't, then you couldn't offer testing to the rest of the family because you don't know what you were looking for, right? Yeah. You have to have, like what you're testing forward to be able to test other people. Has DNA testing turned your life upside down genetic counseling can help just as the novel brooks promise explores multiple areas of genetic counseling, so does watershed DNA brian kirkpatrick is the founder of watershed DNA, where she offers her years of expertise to help people process the emotions and family dynamics around genetic test results for people seeking DNA testing brand can help people choose the right DNA test for those that have already done a test. She can review genetic results, brand guides people uncovering a situation of not parent expected coaches those preparing to share DNA secret and assist those attempting to search for biological family members to find the right path forward. And here's a bonus. You can hear today's guests, Janice berliner on watershed Deanna's podcast called DNA clarity and support podcast.

You can listen in your favorite podcast player by searching DNA clarity and support podcast or you can go directly to watershed DNA dot com where again, you can also book a consult with Brianne and learn more about all the ways watershed DNA can support you and your family. Again, that's watershed DNA dot com, preparing for a career in genetic counseling. Check out keck Graduate Institute in Claremont California at K G I. You will gain the training and development to become an innovative collaborative and carrying genetic counselor, KG I prepares graduates to be leaders among healthcare professionals dedicated to the delivery of advanced personally optimized patient care and the translation of applied and clinical science breakthrough to enhance the quality of life. So, if you want to be a genetic counselor, check out K G I at K G I dot E D u slash DNA today. Again, that's KG dot edu slash DNA today. And something you mentioned earlier was talking about, like the enzyme replacement therapy. That's more of a recent treatment for people that have pompeii disease during this cure, goes to like a conference to learn more about pompeii disease, which I think is such a cool aspect that um, was included in the book of just the patient advocacy side and that patient advocates like are such a big part of like the medical community in terms of helping with their own Children or whoever they're caring for.

Um, but also just like adding to knowledge we have and educating others. Um, what resources are there for parents seeking support of? Maybe if they have a child with a rare disorder. There anything that like as a genetic counselor over the years that has been resources that you found to be really helpful. Sure there are many different types of advocacy groups. Some are conditions specific and focus on one rare condition or a group of closely related conditions. So whether it's pompe disease or it's um, glycogen storage disorders or its metabolic disorders. You can keep increasing your your scope, I guess. Um, some may focus on providing support or driving research while others offer a whole range of services like helping to find a doctor organizing conferences or working to gain the support of local state or federal legislators. Some are more umbrella groups or alliances in which advocacy groups may join together and attack a larger issues, maybe like advocating for legislation to help or protect all individuals with rare and genetic conditions. A couple of good examples include the national Organization for rare disorders, which we sometimes called nord and the genetic alliance.

So while these groups may also provide information and resources for specific medical medical conditions, their activities and resources tend to be focused more on helping the rare disease community at large. And then of course there are just general support groups that focus on a particular symptom that may have different causes or on a part of the body or a body system. These groups tend to offer more general information and resources and sometimes just a place to talk through your feelings on the subject. Yeah, definitely. And nord is such a great resource. The headquarters is actually in Danbury Connecticut for people that are Connecticut based. Um, so close to my hometown there, I did an internship with them when I was younger. But um, there is such a fantastic resource and I find that even when you're searching conditions on there, they really phrase information very nicely in terms of giving you like a complete picture, but phrasing it in layman's terms so that anybody can read it. Um, so I find that that's just a great resource and that they link out to so many other like patient organizations and like those smaller chapters that you were kind of referring to.

Um, so there's certainly so many different resources there. And then, you know, once we're back to in person conferences and like that being, you know, more involved in terms of meeting other people. Um, the rare disorder patient advocates we've had on the show so far have talked about just how embracing an impactful it can be to meet with other parents of Children with the same or similar disorder. Have you heard this from patients over the years? Is that kind of what influenced the book a little bit in terms of like those interactions between parents. I can't say that's what influenced the book to begin with, but it's certainly what made me want to put it in there once I started writing the story and for people who are reading it for whom the whole subject matter may resonate. I think it's going to be important for them to see that these resources exist and how to access them. And that there are these big conferences that can involve both the research scientists and the patients and and further out than that even there's there's the medical personnel that help with patients and their the parents and the siblings.

And there's so much out there and it's a big village to take care of these Children who really need the care. Yeah. Yeah. It certainly is. And I think in the digital age too, it's just so much easier to connect with people, especially around the world. Um and you know, going back to Ryan and kira and all of their experiences, um you know a twist in the book that I wasn't wasn't expecting is that they're found to be related and we're going to leave it vague so that people read the book and everything. Um but right, when you know I found this out, I was like, you know, wow, should we be concerned about other conditions other than pompeii disease? If they're looking at having other kids pompeii disease is going to be one of a conversation, will they have another child pompeii disease, having that conversation with you know, their genetic counselor. But what about other conditions? Right. It's true. So many just genetic disorders, especially those that are detected with carrier and newborn screening, are inherited in a recessive fashion, which means that they have to be inherited from both parents in order for the child to be at risk.

If the baby only inherited from one parent, he or she will be a carrier like the parent but won't be affected with the condition that we're talking about. If a couple is related to each other, then there's an increased chance that each of them has inherited the same recessive gene alteration from a common ancestor. So you know, we all have abnormal recessive genes, we generally speaking don't know about it because the only time it affects us is if we have a child with somebody else who has the same genetic disorder as a recessive trait and it's passed on by both parents in the same pregnancy. And so luckily that doesn't happen all that often. Which is why something like pompeii is so rare, but so it's not because they had a baby with pompeii that we're worried about other conditions, it's more that the same mechanism that caused the recessive inheritance that resulted in pompeii in Brooke could be at work with other genes that they might have in common because of their shared family history and therefore could put another child at risk for pompeii for something else or for both even.

Yeah, I think that's very well said. And just that you know, maybe not all of us. That's a bit of a statement, but you know, most of us are a carrier of some condition. I mean there's there's hundreds of conditions that are inherited in this audit similar recessive way that you explain. So, you know, if this is one of them, are there other conditions that they're both a carrier of because they share some kind of common ancestors you said? Um So certainly another thing to be thinking about and I don't know if this will pop up if there's gonna be a sequel or anything else on the horizon there. I have, I have to ask, right, well you are not the first person who have asked about a sequel. So I'm going to say quite possibly I've written an outline for it, but I haven't started it yet because there were other things I've been wanting to do in the meantime, so decided to write another story first. This one is entitled In Good conscience and is the story of a famous actor who develops a serious illness I mentioned before it's a cancer and in the course of his treatment loses the love of his life. His private information is leaked for the world to see and he faces his mortality of course, much sooner than he ever would have imagined.

Meanwhile, one of the nurses where he's being treated is grappling with whether to reveal some information that she knows about him doing so could save some lives, but would go against everything she was ever taught about patient confidentiality. So it's kind of a patient confidentiality versus duty to warn, kind of, story. And as she struggles with that inner turmoil in her guilt, she ends up forging a delicate relationship with the main character, the cancer patient um which ultimately kind of redeems both of them and um they get through it together, which is maybe all I'll say about that one for now. Yes. No, it sounds fantastic. Yeah, I'm looking forward to reading that one and for people that want to read brooks promise because that's available now, we're teaming up for a give away. So you can head over to our social media, just search DNA today on twitter, instagram youtube facebook and connect with us and enter to win a copy of again for people watching our Youtube video here, brooks promise again, you can win your own copy by heading over to our social media there.

Um but if people can't wait to see if they win the giveaway, where can they just buy the book and have it shipped right to a right. It's on amazon, it's on Barnes and noble. It's on good reads and it's on my website which I would love for you to check out at Janice berliner dot com. And on the website you'll find a great deal of information about brooks promise of course as well as about me and a good number of blog postings I've written and a couple of podcasts that I've done prior to this one and I will very shortly be adding details about in good conscience there as well. So all of the information is there and we're going to link to that in the show notes to this episode available at DNA podcast dot com along with our other 150 episodes that we have. So definitely feel free to watch and listen to all of those. A lot of the episodes are about genetic counseling. Um since that's the field that I've decided to pursue. And so we've had a lot of genetic counselors on the show here like Janis. Um and so if you have any questions for myself for Janice, feel free to email in info it info at DNA podcast dot com.

And one quick favor before we end the show, if everybody could take a moment to rate and review us on apple podcasts, we'd really appreciate that. And if you read books, promise, then do Janice a favor and leave a rating on amazon good reads, Barnes noble. One of them, all of them. Um that is the way to help authors out for people that aren't aware. Reviews are very important. Um so thank you so much Janice for coming on and just nearing out with me about a genetic counseling book because there's not a whole lot of them out there. So it's like a very small shelf that I've started now. Thank you so much for having me. It was so much fun. Don't forget to help us defend our best 2020 science and medicine podcast title. Go to podcast awards dot com and select DNA Today in the science and medicine category. Here's a bonus if you tweet or post that you nominated DNA today, then we will share your post and give you a shadow on the show as a thank you again. That's podcast awards dot com DNA Today for the science and medicine category. You have the power to get DNA today nominated again and hopefully win again.

So please nominate us now at podcast awards dot com science and medicine category. If you would like to enhance your genetic counseling practice. Don't forget to check out the University of british Columbia's graduate certificate in genomic counseling and variant interpretation. The program has four courses Which are each 13 weeks long. They are fully online and flexible so they can fit in with any time zone or schedule. sGC has also approved each individual course for 3.9. See us that's almost four cpus per course, learn more of you. The link in the show notes for this episode or at DNA podcast dot com. Alright, everybody. Thanks for listening or watching, join us next time to learn and discover new advances in the world of genetics. D N. A. Almeida.

#152: Janice Berliner on Brooke's Promise
#152: Janice Berliner on Brooke's Promise
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