Crack the Case: Where Family History is Always “Pertinent”… Inheritance Pearls from a Genetics Counselor

April 21, 2023

Genetic counselors are a wonderful resource to pediatricians everywhere, working closely not only with medical geneticists, but also a host of sub-specialists. They wear many hats as families grapple with a new possible diagnosis – gatherers of information with trusty pedigrees, teachers of lofty medical concepts to anxious parents, guides through a bevy of genetic testing options carrying different pros, cons, and cost/coverage. They also provide vital emotional support to parents and children wondering: “what does this all mean for me, my family, and possibly my future family?”

This week’s episode features Dinel Pond, Children’s Minnesota’s lead genetic counselor, who guides us through expert family history-taking, strategies for explaining genetic concepts across different languages and educational backgrounds, and often encountered clinical cases.


Dr. Angela Kade Goepferd: This is Talking Pediatrics, a clinical podcast by Children’s Minnesota, home to the kid experts where the complex is our every day. Each week we bring you intriguing stories and relevant pediatric health care information as we partner with you in the care of your patients. Our guests, data, ideas and practical tips will surprise, challenge, and perhaps change how you care for kids.

Welcome to Talking Pediatrics. I’m your host, Dr. Angela Kade Goepferd. On this episode, another Crack the Case with Bryan Fate, we speak with one of our kid expert genetic counselors, Dinel Pond, about what general pediatricians need to know about things like getting a good family history, how to explain genetic testing to a family and how to grapple with the costs and sometimes red tape of prior authorization that comes with pursuing genetic testing.

Dr. Bryan Fate: So welcome to Crack the Case where we dive into real cases seen at our Minneapolis clinic to highlight medical decision making approaches to general pediatrics topics and life in primary care. We’ll also incorporate music written by myself and friends at the end of every episode to highlight teaching points and hopefully engage the emotive side of your brain. I’m Dr. Bryan Fate, a general pediatrician at our Minneapolis clinic. And with me today is Dinel Pond, one of our fabulous genetic counselors at Children’s Minnesota. In addition to working in our genetics, pharmacogenomics, and cancer and blood disorders clinics, Dinel is also a passionate teacher and clinical supervisor for learners from the University of Minnesota as well as Augustana University. Well, welcome Dinel. And as an icebreaker, so our listeners can learn more about you, just wanted to ask what drew you to genetic counseling to begin with?

Dinel Pond: I wanted something to do with genetics. I knew going into college that I wanted to study genetics. And I was interested in the medical field but not necessarily in becoming a physician. So I kind of lucked into hearing about genetic counseling during I think it was a junior level course at the University of Minnesota. And luckily, the University of Minnesota has a genetic counseling program, so I was able to talk to various people and learn more about the career and really kind of fell in love with the idea of blending the science and the psychosocial aspects and dove right in.

Dr. Bryan Fate: You wear many hats. And learning more about it just as preparation for this, I have a lot of admiration for your field, Dinel. I’m going to introduce our cases today and talk a little bit about genetic counselors who are a wonderful resource to pediatricians everywhere, working closely not only with medical geneticists, but also a host of other subspecialists. They wear many hats as families grapple with a new possible diagnosis. Gatherers of information with trustee pedigrees, teachers of lofty medical concepts to anxious parents, guides through a bevy of genetic testing options carrying different pros, cons, and at times, staggering financial costs to those tests. They also provide vital emotional support to parents and children wondering what does this mean for me, my family, and possible my future family? So with that, we will start the case.


So our first case today, Dinel is Fanny who is a newborn coming to your clinic for the first time after an unremarkable prenatal and nursery course. As a first patient encounter, you know it’s important to lay a solid bedrock of history to chart your decision making going forward, including the oft neglected family history section in which most physicians write in “non-contributory.”

Dinel Pond: Yes.

Dr. Bryan Fate: So Dinel, as a genetic counselor, how would you guide general pediatricians to elicit the most clinically relevant pieces of a family history and in doing so, kind of avoid getting lost in the weeds? I feel like I either get way too much information like, Great uncle Charlie’s knee replacement when he was 65. Or nothing and then I look and there’s a sternal scar and just, “Hey, did you have something related to your heart?”

Dinel Pond: Oh, I had a pacemaker placed when I was 15. Right?

Dr. Bryan Fate: Right. So just wondering if there are specific phrases or questions that you use to kind of frame that information.

Dinel Pond: Our approach to a family history and genetics clinic is usually a little bit different and it’s a little bit focused based on what the clinical concern is, but I think there are still some general family history questions that we pretty much ask of everybody. So the ones that we pretty much ask of everybody include is there a history of birth defects, so things like cleft lip, cleft palate, a hole in the heart. Those are the keywords that are really going to bring the major things to people’s brains. Also learning disabilities, autism, that scope of issue. And then depending again upon sort of where you are with your patient’s age, if it’s a newborn, maybe asking about is there a history of sudden deaths or SIDS, something like that or hearing or vision loss would be helping you screen out some early concerns. I would steer away, especially in newborns, from asking things like family history of cancer. That’s probably not going to be very relevant to your patient at that point in time and that could definitely drag you into the weeds.

Dr. Bryan Fate: Mm-hmm. Yes, and given that we unfortunately don’t usually have the time to break out the pedigrees in our 20 to 30 minute visits, you tapped on this a little bit, but kind of key clinical areas of focus. So I sometimes think of sudden death and things like inherited arrhythmias, heart disease, things that have had a very major impact without any prior warning signs. But any also specific medical diagnoses or categories that you really hit into in a first new patient visit you would think of?

Dinel Pond: For newborns, I think one of the big concerns for families that I often hear about is family histories of autism or learning issues. So I would generally ask some sort of variation on that question, looking for intellectual disability, especially is there an X-linked pattern in the family type of thing. But also thinking maybe neurology, you could ask about seizures or muscle weakness. So thinking about epilepsy and various types of muscular dystrophy. Those aren’t going to be very common, but it might be worth asking about. Short and tall stature would be another one that would sort of broadly cover a lot of areas if you’re thinking significant connective tissue disorders.

Dr. Bryan Fate: Good. But I think we have a couple primers for my next case here. So an East African family brings her three-year-old daughter, Ila, to a clinic visit for her well check after recently being diagnosed with autism spectrum disorder. So you primed that nicely. After going through developmental supports, therapies and how family is coping with the diagnosis, you begin to discuss the AAP’s recommendations that all children with autism undergo a genetics valuation. So between the interpreter and limited formal schooling background for parents, you end up stumbling through an explanation about “building blocks”, something about a blueprint, and everyone seems utterly confused by the end of your rambling, which has happened before. The concept of genetics and inheritance is a big one and just describing it I think can be really challenging. So just wondering how you typically describe that and the possibility of testing in a way that’s clear and approachable to families like Ila’s.

Dinel Pond: It really depends on like you pointed out, that whole spectrum, what is the family’s base knowledge? What is their own personal conception about what it means to have these instructions in your body? Where did those come from? I had a colleague once describe how she was trying to explain this concept to an East African family. And she thought she was making good progress and then all of a sudden the interpreter came back and interpreted the mom saying, “So tell me, does this have to do with the meat or the bones?”

Dr. Bryan Fate: Yeah, yeah.

Dinel Pond: That’s a great lesson I think in thinking about trying to understand what the family understands about this. I usually start by saying, “Okay, what we’re talking about here is our understanding about how we pass on our information or our instructions for how our bodies should be built to our children.” I tend to use analogies having to do with recipes or cookbooks a lot. I feel like that’s a concept that’s relatively universal, not everywhere. But I think it’s kind of better understood even if it’s not about a book, you can talk about it being, hearing a recipe from your grandmother, right? Most cultures have that as concept and how following that recipe the right way or different ways can give you different outcomes. So if we’re trying to make a diagnosis of a genetic condition, what we’re looking for, is there a problem with one of the recipes in your body where if you follow it that way, it’s not going to work, it’s not going to turn out. And I think that tends to be pretty well understood.

Dr. Bryan Fate: Yeah. And I’ve also encountered certain religious backgrounds too where it’s kind of what’s there is there and manifest. And therefore the idea of testing is kind of a non-starter conversation that even if we think we might be able to find something that changes management or could catch something that could affect the child one day, I think that’s another piece of the conversation that can be there.

Dinel Pond: Absolutely. And we’ve definitely run into that, too, like, “No, I don’t want to do anything. I understand this is the way my child is and this is the way they were made.” Are we going to be able to change that? The answer is pretty much always no. And in that case, well, why bother? Although sometimes when we do come back and say, “Oh, but we might learn that there’s this problem that we need to look at.” And we could treat that problem or if we treat that problem we could prevent other issues from happening down the road. Sometimes families will decide, okay, that might make sense for our family. That might be important information for us. But certainly not everybody does.

Dr. Bryan Fate: And you talked about, so framing the idea of doing genetic testing and trying to think of the benefits that might provide in terms of finding things that we can’t see to the naked eye like kidneys and heart and things that we might catch, something that we could help the child with later on, so screening, but also changing potentially the management of certain diagnoses. So just seeing how you kind of frame benefits of a genetic test if you think it’s indicated.

Dinel Pond: Asking those questions and seeing where are you in your desire to know? Because some families really want to know an answer and they’re really curious. And even if it won’t change management, even if the odds are that we’re not going to get an answer, they still want to rule something out or rule something in. I think it’s just important to be able to have those conversations. And I think that’s where a really skilled interpreter comes into the picture, having somebody who’s really able to help you navigate the cultural understanding.

Dr. Bryan Fate: I also think sometimes there’s a conflict of us as physicians who want to know ourselves, who want to answer, who want to put a nice bow on it and say we have a diagnosis. And there is some self there that is motivated by our medical curiosity to know. But being able to put that on hold when we assess the values of the family as well, if it’s just for knowing’s sake, I see that conflict in myself sometimes, too.

Dinel Pond: There have been times too where we’ve been in clinic and trying to sort of assess that value. Are we really trying to push this? Should we be really trying to push this? Can we step back and be okay with the family’s decision to not pursue something or to, in our eyes, potentially over pursue something? There is a lot of self-reflection that goes into it as well.

Dr. Bryan Fate: So I think ordering some of those clear indicated tests would be helpful for some families, but I am always hesitant about the cost and wanting to know if there needs to be a prior authorization and how that works in. So thinking about how general pediatricians could go about starting that process. Every genetic test needs a prior authorization typically if there are things that you can get started in clinic as a general pediatrician.

Dinel Pond: Unfortunately because of the nature of insurance companies and the way that each plan, even plans offered by the same insurer, will have very different rules for what you can and can’t order, what requires a prior authorization or doesn’t. So it can be a little bit tricky. I will say for things like autism where we now have very well established guidelines, most insurers will at least not decline to pay for that testing. But then you also have to keep in mind what is the out-of-pocket cost and how much is that family going to end up getting billed? And that’s really hard to predict. Certainly if you have a child, at least in Minnesota, if you have a child who’s on MA, has developmental delays, you’re pretty safe ordering a microarray and a Fragile X. That is going to be covered. But unless that’s a straight MA plan, you would have to ask the insurer.

So I’m thinking UCare MA or a health partner’s MA plan, you still have to ask health partners for approval first and then usually it’s covered because usually you meet criteria, but they want to check to make sure that that child meets their specific criteria before they go ahead and do that, which is why we’ve sort of structured it here at Children’s for everybody to be referred to genetics first. Out in the broader community, I think it might make sense if providers have somebody that they can work with at their institution to understand that process. I mean, it will also depend does your institution do direct billing or do they use third party billing for some of these things? So there are a lot of nuances to the whole question. But I have seen practices, I know in Chicago it’s relatively common for general pediatricians to order those first steps at least in some of the practices and then once they have those results, send them over to genetics.

Dr. Bryan Fate: Okay. So regionally it varies. We can reach out to you guys for guidance and ideally have someone in clinic who can call insurance and help navigate that. Okay, so let’s go to our third case who is Magnolia or Maggie is a nine-year-old otherwise healthy kiddo who’s coming in for her well check. She’s a dynamic gymnast and mom brings up the concern that she might have joint hypermobility just like herself. So mom does not have a diagnosis but has been going to some doctors and does have some chronic joint pain, diagnosis fibromyalgia. She also reports that we have a strong family history of cancer and I’d like to get her tested for risk factors before changing the subject to sleep and the shape of her toes. Some concerns there apparently.

Yeah, so I think this is a pretty frustrating one that comes up a lot in our clinic. I think sometimes it can be a proxy for parental anxiety, not to underplay. There are certainly real connective tissue disorders and diagnoses out there, but sometimes it goes hand in hand with the long allergy list to gum and balloons. But allergy lists that are just lengthy and don’t quite make sense I think is another proxy. But I was curious, there are certain historical points for joint hypermobility that would point you kind of to more concerns for a true connective tissue disorder versus just a lanky flexible kid within the realms of normal.

Dinel Pond: That is the eternal question I feel like and we grapple with the same things. We’ve even put together sort of criteria for who will we accept for evaluation of joint hypermobility. So one is age based. You said this child was nine years old. That’s reasonable. If that nine year old has super bendy fingers, has a Beighton score of five or more, then maybe yes, it’s reasonable to refer, especially if there’s any history of nursemaid’s elbow or other sort of joint dislocation type things. Or if they have unusual stature, if they’re on the high end or the low end of the growth curve compared to where their parents would be. Also considering any hearing or vision issues, do they have high myopia]? Then yes, that in combination with the hypermobility would definitely signal a connective tissue disorder. Sort of putting together those different pieces is really important.

A parent who’s complaining about their three-year-old being really flexible, we’re not as concerned about. You get stiffer as you get older. And Beighton scores really are not designed for young children. But there is actually a really nice five point questionnaire outlined in the American Journal of Medical Genetics publication from 2017 about the diagnostic criteria for hypermobility and EDS that I think is really useful. And I can just read a couple of these off right now.

So it’s can you or could you ever, if you were talking to an adult, place your hands flat on the floor without bending your knees? So you could ask a child to do that in clinic.

Dr. Bryan Fate: Definitely cannot do that myself.

Dinel Pond: Can you or could you ever bend your thumb to touch your forearm? So bending it forward so that it can be flush.

Dr. Bryan Fate: Nope.

Dinel Pond: That’s one of the things that we do screening for Marfan syndrome and classic EDS. As a child, did you amuse your friends by contorting your body into strange shapes or could you do the splits? That’s one. Could you put your heel behind your head, is sometimes the way that we ask it in clinic, too. As a child or teenager, did your shoulder or kneecap dislocate on more than one occasion? I think the nursemaid’s elbow would also be a valid version of that question. And do you consider yourself double-jointed? So according to this, a yes answer to two or more of those questions suggests hypermobility with 80% to 85% sensitivity and 80% to 90% specificity. Now this is a relatively old publication that this was adapted from, but I think it’s still valid and I think it’s still useful, especially for the general pediatrician. That’s a pretty quick thing that you can either ask the question or ask the child to actually do.

Dr. Bryan Fate: That’s super helpful. And I also know you work in the oncology hematology clinic too, Dinel. So I was also just wondering about cancer family history. We know probably not as relevant in the newborn, but as kids get older, kind of what history, since it gets brought up a lot, is probably most concerning to pediatricians deserving of further consideration from a Gen X counselor?

Dinel Pond: Definitely anybody with a really rare cancer diagnosis, especially at a young age. There are a few types of cancers that are really specific to certain cancer predisposition syndromes, things like an adrenal cortical carcinoma, an ACC, or a choroid plexus carcinoma in a child. Those are classic signs of Li-Fraumeni syndrome. So if you heard of a relative with that, especially who was directly in line to that parent, I would consider recommending evaluation either for the parent or for the child. More often I encourage if it’s a family history of early onset breast cancer, even if it’s breast cancer in your 20s or 30s, I’m going to recommend that the parent be the one to be evaluated first because they’re the one who’s closest related. They’re the one most at risk. They’re the one who’s most immediately at risk for breast cancer because they are way older than this child.

But there are certainly some times where families have a known cancer predisposition syndrome and they want to talk about the idea of testing a teenager or even younger for some of these adult onset predisposition syndromes. In general, we encourage families to wait as long as possible. We like to have that teenager be involved in that decision making. I’ve run into families where they are insistent and where parents have tried to basically get the testing sent on the child without the child knowing that this test is being sent. And that’s really difficult for me personally, for pretty much any provider to not let that child be involved.

And so usually if you are able to sit down, I’ve had this conversation with many families, most of the time, especially if it’s a BRCA1 mutation in the family, if you sit down and talk about the reasons why you might consider testing or might not consider testing, most of the time families will be okay delaying it. But there are certainly times where a 17-year-old girl whose maternal aunt was diagnosed at 25, she’s within 10 years of the age at which her aunt was diagnosed. We might actually consider screening her now. So we might go ahead and do that testing. It’s a very individualized decision even though there is good statements out there by the NSGC, ACMG about delaying testing for teens until they are able to make that decision for themselves.

Dr. Bryan Fate: Sure. I would like to just end, Dinel, maybe with a little lightning round. And my first question is one or two commonly encountered genetics misconceptions that you encounter from general pediatricians.

Dinel Pond: The idea that genetic testing is really expensive or really inaccessible is really common. And the cost of testing, the availability of testing has come down a lot in recent years, especially even pre-COVID. But definitely post-COVID, the vast majority of the patients that I see at least are by telehealth and we are able to have kits sent out to the house for a family to collect saliva or cheek swabs at home. They can send it back to the lab.

We use this third party billing process where the lab who is contracted with nationwide payers and even regional payers all over the US, deals directly with the insurance and really streamlines that process and takes a lot of the waiting time away. And so we can send out a test and have results back in two to three weeks, which I think for a lot of pediatricians the expectation is that, oh no, it’s going to take months and months. Yes, that’s still true for some genetic tests, certainly exomes, things where you’re trying to look at all of the genetic information that just takes longer to interpret. But for the more focused diagnostic panels, it can be relatively quick.

Dr. Bryan Fate: One other question I had is maybe a referral that you get where probably reassurance would be more appropriate or waiting. I know we talked about some of the cancer concerns. And maybe one that should be referred more frequently to you that you’d like to see people seen sooner.

Dinel Pond: MTHFR, we get referrals for that occasionally. I think most pediatricians are now relatively experienced with, okay, this isn’t really going to help us. And we have some great resources that I love to share with primary care providers to answer that question. Basically that test is not going to tell us anything. Hemochromatosis comes up relatively frequently. Again, it’s one of those things that unless you have two really high risk alleles, it’s probably not going to be an issue. And even in young kids, even if they have both of those, it’s probably not going to be an issue. So reassurance, we can check, we don’t have to do genetic testing. We can do clinical screening, looking at ferritin levels, things like that that can help allay those fears a little bit.

Similarly for Factor V Leiden, we don’t really do standard testing unless there is a clinical history to warrant it. I mean, we do that for kids who are in the hospital with strokes, but it’s not necessarily a great preemptive test because risks for abnormal clots in young kids are so low that we don’t really address it until something happens. And there wouldn’t be preventative recommendations anyway.

Dr. Bryan Fate: Anything that we maybe under refer or miss that you would point out?

Dinel Pond: Well, we’ve certainly seen delays. I mean, sometimes those delays are just a matter of family not wanting to come in. We’ve seen multiple times kids with significant delays who don’t come in until they’re a teenager. And we possibly could have provided the family with some more information, some direction about what to expect in this child’s education and life a little bit earlier that may have been helpful. I’ve seen families who come to end up with a diagnosis at 15 and find this community of people who have children very much like their own and wish that they could have connected with them sooner.

But sometimes you’ve tried to make those referrals and the family just hasn’t taken you up on it. I do think for some of these cases too, just questions about family history of cancer. If the family is really persistent, it can be the type of thing where just sitting down and talking to somebody about it can be helpful for them. And we have myself who sees most of those cases with family histories of cancer specifically, but we also have genetic counselors who are very well versed in adult onset cardiology conditions who can answer those questions and provide some reassurance to families.

Dr. Bryan Fate: I really appreciate you joining me today, Dinel, for this fascinating conversation and helping general pediatricians get better at building a family history and knowing what to look for, what they can do on their own and when to get you involved, too. So until it’s time to crack another case, a musical number to engage the emotive side of your brain and hopefully tug at your heartstrings.


Dr. Angela Kade Goepferd: Thank you for joining us for Talking Pediatrics. Come back each week for a new episode with our caregivers and experts in pediatric health. Our executive producer and showrunner is Ilze Vogel. Episodes are engineered, produced, and edited by Jake Beaver. Amie Juba is our marketing representative. For more information and additional episodes, visit us at, and to rate and review our show, please go to