According to the American Society of Human Genetics, medical genetics is any application of genetic principles to medical practice. This includes studies of inheritance, mapping disease genes, diagnosis and treatment, and genetic counseling, all offered by Nemours Children’s Health.
Carol Vassar, producer
Karen Gripp, MD, Pediatrician, and Genetic Researcher, Nemours Children’s Hospital, Delaware
Laura Baker, Genetic Counselor, Nemours Children’s Hospital, Delaware
Louise Amlie-Wolf, Genetic Counselor, Nemours Children’s Hospital, Delaware
Carol Vassar, podcast host/producer (00:00):
Welcome to Well Beyond Medicine, the Nemours Children’s Health podcast. Each week we’ll explore anything and everything related to the 80% of child health impacts that occur outside the doctor’s office. I’m your host, Carol Vassar. And now that you are here, let’s go.
MUSIC: Well Beyond Medicine! (00:21):
Karen Gripp, MD, Nemours Children’s Health (00:27):
Genetic testing has evolved very dramatically over the last decades. We are now able to assess the genetic material with a lot more understanding that we were able to do in the past. So the new technology has driven us being able to make now new diagnoses, and it has also allowed us to describe new medical conditions.
Carol Vassar, podcast host/producer (00:51):
That’s Dr. Karen Gripp, pediatrician and genetic researcher with Nemours Children’s Health, talking about progress made and progress still to come in the world of genetic medicine and counseling, all of which we’ll discuss in depth during this episode. Joining the conversation about genetic medicine and counseling are Nemours genetic counselors, Laura Baker and Louise Amlie-Wolf.
According to the American Society of Human Genetics, medical genetics is any application of genetic principles to medical practice. This includes studies of inheritance mapping, disease genes, diagnosis and treatment, and genetic counseling, all available at Nemours. Dr. Gripp continues our conversation by explaining medical genetics in more detail.
Karen Gripp, MD, Nemours Children’s Health (01:48):
Genetic medicine considers the genetic makeup of the genes and what way they affect the person. This can be for children, particular an effect on normal growth and development. All of this is governed by your genetic material, in addition to your environment, and it can sometimes contain risk for certain medical conditions. So assessment for risk is also very important when we look at children that have a condition that runs in the family.
So for us in a pediatric setting, it really encompasses almost every aspect of the child’s growth and development or medical conditions. But there are other ways to consider medical genetics. So, for example, in adult medicine, it’s often part of a cancer risk assessment and treatment because cancer is a genetic condition. In the OB/GYN world for maternal-fetal medicine, there’s a whole other field of prenatal genetics and testing of either pregnancy or couple for their genetic risks. So there are many different aspects to medical genetics, and these are just a few of the different facets that I think I’m going to know about.
Carol Vassar, podcast host/producer (03:04):
Can you give us some of the history of how genetics intersects with healthcare? I don’t remember genetics being a big deal in my healthcare growing up. So I’m wondering when this all occurred where genetics and healthcare kind of came together, and where pediatric healthcare and genetics started to come together.
Karen Gripp, MD, Nemours Children’s Health (03:23):
We’re learning more that a lot of developmental growth and developmental problems, such as, for example, autism or intellectual disability, can be caused by genetic conditions. And the same is true, for example, for a condition called cerebral palsy, or CP, that in the past used to be thought to be due to a birth trauma, but we learned more and more that there are genetic causes for that. Similarly, for childhood cancer, we learned that almost all the time, there is a genetic underlying reason for childhood cancer. So over time, we understand how the genetic material predisposes to medical conditions. So it is true that over time, the role of genetics has increased because we understand much more about how genetics affects growth, development, health, and medical conditions.
Carol Vassar, podcast host/producer (04:21):
A lot of times, children in, I know in Connecticut, where I’m based, and I’m pretty sure in Delaware, there are some genetic conditions that are tested for right at birth, and parents might not even know that that’s happening. Can one of you talk about that infant birth genetic testing that happens?
Karen Gripp, MD, Nemours Children’s Health (04:42):
Yes. You are referring to the newborn screening program that, there is a little bit state by state, but in general, this is a test that’s performed on a neonate’s first days of life where the child is screened for a number of medical conditions that are, by definition, genetic in nature, that are present from birth. These conditions can be identified early, and if they are identified early, treatment can have a significant impact on the child’s health long term. Those are the criteria for medical conditions to be included in this newborn screening approach. And that is one of many ways how genetics is incorporated into the basic healthcare of every child that’s born in the US.
Louise Amlie-Wolf, Nemours Children’s Health (05:34):
To give an example of how newborn screening can significantly help patients, one of the conditions that are on the newborn screen is called cystic fibrosis, which is a condition that can occur from birth and affects primarily the lungs and respiration, as well as the GI tract. This is a condition that now has medications that can really help to reduce symptoms based off of your specific genetic mutation. So it’s a classic example of how precision medicine has really helped in terms of medical management for these conditions.
And so these babies who are identified on newborn screen to be at increased risk for having cystic fibrosis are being identified at very young ages. So we’re talking about maybe a week of life. And then, those patients can end up in our cystic fibrosis clinic here at Nemours, and we help to provide genetic testing, genetic counseling, and other follow-up care as needed. And these patients then can be treated from very early on to help reduce the significant symptoms that can occur with cystic fibrosis. And so this is something that has been increasing in frequency in terms of these patients presenting early on in life as opposed to presenting later, say age five or even later. We now can identify them from infancy and really help to improve their outcomes.
Carol Vassar, podcast host/producer (06:58):
An early intervention, as with any disease.
Louise Amlie-Wolf, Nemours Children’s Health (07:02):
Carol Vassar, podcast host/producer (07:02):
Laura, genetic counseling, you’re a genetic counselor. Tell me what you do from day to day as a genetic counselor. What’s your role in all of this?
Laura Baker, Nemours Children’s Health (07:15):
Genetic counselors play a pretty wide variety of roles in the healthcare of children with potential genetic diseases and confirm genetic diseases. What we really do is help providers identify the correct genetic testing strategy to make a diagnosis, and then most importantly, we translate that information in language that can be understood by a family. So we provide pretest counseling to families who are undergoing the process of genetic testing and genetic counseling.
We provide informed consent, and then we participate in the diagnostic process by helping to interpret genetic test results and again, translating that in language that a family can really use to adjust to a specific diagnosis and access appropriate care for their children. We also do help people understand how genetic conditions run through a family, various inheritance patterns, know what are the chances for a future baby to be born with any given condition, and then help people access options for reproductive planning when appropriate and desired.
Carol Vassar, podcast host/producer (08:15):
So you run the whole gamut. You treat not just the patient at hand. Maybe the newborn screening showed a cystic fibrosis gene of some kind, and then the child is now in the program, but also look at the greater circle of parents, siblings, and so on?
Laura Baker, Nemours Children’s Health (08:31):
That’s correct, yeah. We kind of treat the family as the patient in many cases. We want to make sure that anyone who is at risk for a specific genetic condition can access diagnosis and appropriate treatment or even proactive preventative care in many cases, especially in terms of precision medicine.
Carol Vassar, podcast host/producer (08:48):
So Louise, take me through a session. Maybe I have just learned that my newborn has that cystic fibrosis gene. What would you say to this couple coming in? How would you counsel them? What would that experience be like for me as a parent?
Louise Amlie-Wolf, Nemours Children’s Health (09:03):
Sure. So the genetic counseling session is generally tailored to the information that the parent already knows about the condition. So generally, when we start out in a session, whether it’s when we are with the provider or if we’re having a separate genetic counseling visit with the family ourselves, we ask them first, what is it that you know about why you were referred for genetic counseling? In order to determine what information they already have. And then that allows us to tailor the information that we give. But there is very basic information that we want to give to every single family, which is that we start with giving information about what is genetics. So some patients know a little bit about genetics, some patients know nothing about genetics. So we provide information about what is genetics, what are genes, what are inheritance patterns, what is the condition we’re testing for?
And then, based off of that information, then we can help them understand why has their provider referred them for this testing. So is it because their child had an abnormal newborn screen, or is it because there’s a question that the patient had kidney stones, and we want to see is there a predisposition to kidney stones? So we go through that information with them to help translate the medical information that the provider has given to us, to the patients and their family so they understand what is the reason for them being referred.
We also then talk about, what are the different kinds of results that we provide from this testing. So this can vary from positive negative, there can be unexpected findings with any genetic testing. So that’s very important to go over. We also talk about what is the next step based off of those different kinds of test results based off of what information we know from the provider. And in some conditions, we may have more information about what medical management may change. So like with cystic fibrosis, there can be certain medications that can be given if the patient does indeed have these mutations associated with cystic fibrosis.
And then we also talk about things like what is your genetic privacy right? So there is a law called the Genetic Information Non-Discrimination Act that protects against genetic discrimination by health insurance and jobs. So we go through that in detail so they understand what are their rights if their child, or if they are found to have a genetic condition. And then also we talk about the actual basics of how this testing is done. So how do we get a sample from you? What is the insurance situation for this testing? What is the timeframe that you can expect to get these results in, and what is the actual follow-up process going to look like from there on?
And then we also will collect a family history at some point during the session because that helps us to determine, is there anything else we need to be thinking about? Because sometimes, that family history can help us to go in a different direction and say, we want to do this test, but we also recommend this other test based off of that family history. Or We don’t recommend doing this testing because of that family history. And so then that allows us to give them information that’s very targeted towards their family and personal history, to help them understand why they’re getting the testing and what are the next steps from the testing.
So this counseling session can really vary sometimes from 20 minutes up to an hour, maybe even sometimes multiple hours. It really depends on the patient’s and family’s needs. But we basically will sit down with them and devote our time and attention to them for that time period and give them all the information they need to be able to say, yes, I want this testing, or No, I do not want this testing. Because that is a very important part of genetic testing, and genetic counseling is to obtain their consent to go ahead with the testing. And that may be a decision to not go ahead with testing, but also it gives them all the information they need to decide, yes, I do want to do that testing.
Laura Baker, Nemours Children’s Health (12:57):
And just jumping off of what Louis explained really nicely, I think genetic counselors are trained not only in genetics and genetic healthcare but also in psychosocial counseling. So we really like to meet families where they are in terms of how they feel about a potential genetic condition in their family, what the potential impacts are on family dynamics. So we really want to provide comprehensive care in terms of helping families feel empowered to learn and understand the impact of genetic medicine on their families or child’s health.
Carol Vassar, podcast host/producer (13:30):
Dr. Gripp, you have the medical role in all of this. Describe how you move forward with these families once the genetic testing, if they consent to it, once the genetic testing is completed, how do you move forward with these families?
Karen Gripp, MD, Nemours Children’s Health (13:46):
It very much depends on what the results of the testing are. If indeed we make a specific genetic condition diagnosis based on the test results, we would explain to the family what that means and what that might mean for the child going forward. And we work on setting the child up for the most appropriate healthcare going forward so that the child benefits from all the available therapies, knowing what we now know about the genetic information. And then we also consider what Laura and you already mentioned, the bigger context of the entire family, is this information that is relevant for other individuals in the family. And that’s where the collaboration with the genetic counselors is very important because they might be able to help the family take this to another level or share this information with other family members.
And then, in turn, this also often means for the individual that was just diagnosed with a genetic condition, when that individual is an adult, plans on having a family of her own or his own, there might also be a recurrence risk. And again, at that time, a genetic counselor might be able to assess the risks and discuss it with a patient to allow the most informed choice for the couple at that time. So that’s often what we, as clinical geneticists do when we have a specific diagnosis.
At other times when we do genetic testing, we do not make a specific diagnosis. So then we might suggest to follow the patient, and we assess findings and the development of the patient, and consider additional testing in the future. At that time, when we don’t have an answer, we think about, is there other genetic testing that might be appropriate. And sometimes we talk to our colleagues to see if they have experience with a similar situation, could give us additional information so when we don’t have a clear diagnosis, sometimes there’s a lot more to be done as well.
Carol Vassar, podcast host/producer (15:54):
And there’s a lot of research, I’m sure, that’s going on in that area. What research are you seeing coming down the road, Dr. Gripp, in terms of diagnosis and treatment for kids who have genetic issues that they’re facing? It sounds like for a lifetime.
Karen Gripp, MD, Nemours Children’s Health (16:10):
Yeah, genetic testing has evolved very dramatically over the last decades. We are now able to assess the genetic material with a lot more understanding than we were able to do in the past. So the new technology has driven us being able to make now new diagnoses, and it has also allowed us to describe new medical conditions. So when a specific condition is identified in very few patients around the world, we need to look at these patients together in order to understand what this condition might entail and how you best care for these patients.
So not only is the molecular diagnosis possible with the new technologies, it is also now possible to identify the conditions that we need to know about and that the families know about. In addition to that, the assessment of the patients has evolved a little bit in that with AI technology; we now have a tool to look at facial features of a patient and to assess those for similarities with well-recognized genetic conditions or to match them with other patients who have currently undiagnosed conditions.
So again, we’re learning more about genetic conditions. It is quite clear to me that we don’t have a full understanding, not on the genetic testing side nor on the clinical side as to what all the relevant medical conditions are and what we need to know about them. But we keep making progress. And that certainly also means that we would like to reevaluate those patients and whom we were not able to make a diagnosis in the past.
So that is definitely progress that’s being made, and a lot of companies are now working on additional targeted treatments, so there’s more to come in that respect. And so our pharmacogenomics program, we are now able to identify for specific patients how they would react to certain categories of drugs. So we might be able to use that information to choose more wisely which medication and what dosage of the medication would be helpful for a patient. So there’s a lot of progress being made, and I think there will be a lot more progress being made in the near future.
Carol Vassar, podcast host/producer (18:27):
And that’s good news for parents who maybe don’t have a diagnosis to start, but three, four years down the line, there might be a diagnosis or there might be a treatment that is relevant to their child and their child’s health. I want to ask about privacy, and I think Louise did talk a little bit about this initially. But when we start talking about genetic material and privacy, it raises some questions for some people about how safe is this material in the long term? What is Nemours doing to keep private the information that is gleaned from the genetic testing that is done across the enterprise? Louise?
Louise Amlie-Wolf, Nemours Children’s Health (19:08):
I would say that a big part of it is making sure that the information is available to the people who need it, but only those people. And a big part actually of the stewardship program is helping the providers who want the specific genetic testing obtain it and making sure that it’s in our medical record system so that the people who need it have access to it. But also, we have very strong information security policies such as HIPAA and the Genetic Information Non-Discrimination Act that I mentioned.
And so the genetic counselors are an important part of making sure that we are choosing laboratories that are CLIA certified, which is a very important certification that is required for genetic testing laboratories to hold. And part of that includes making sure that there are strong information security policies on the end of the laboratory as well so that we’re not sending the patient’s DNA to a lab that maybe will use it in some malignant way in the future.
So these laboratories are ones that we trust and have used in the past and have those strong policies to make sure that the genetic information is safe. A lot of these laboratories have research arms, but these research arms are using only anonymized and non-identifiable genetic information in those research studies. So it’s more of trying to make sure that they can help to put together and develop new genetic tests that are going to be even better at detecting genetic mutations, for example. And so these laboratories will use information in that way, but it’s very secure and in a way that’s not going to allow patients to be identified.
So we are making sure that we are only choosing laboratories that are very compliant with those information security policies so that we can make sure that the patient’s information is safe both on our end and on the laboratory’s end.
Carol Vassar, podcast host/producer (21:08):
Laura Baker, Nemours Children’s Health (21:09):
I would just add to that, Louise, that in addition to that federal law, the Genetic Information Non-Discrimination Act, that you described, which essentially says that health insurers and most employers are not allowed to use genetic testing information or family history as sort of a pre-existing condition. They’re not allowed to discriminate based on a genetic diagnosis, that Nemours has taken some extra steps to protect privacy of genetic information, including flagging some high-level genetic tests in Epic in the electronic medical record, especially those that can contain familial information, as requiring additional review before being released to third parties.
So I think we’ve worked with our EPIC and IT folks to put another level of privacy in place. And part of the genetic counseling session is that we do always discuss privacy with families. The Genetic Information Non-Discrimination Act is a really important law, but it’s not perfect. So we do want people to know the limitations, meaning that companies like life insurance companies, long-term care, or disability insurance companies are actually allowed to ask about genetic testing information. So we want to make sure that we give families a really clear picture of what protections are in place, both at the federal, the state, and the institutional level, but also what the limitations are so that folks can really make an informed decision about testing for their child or their family.
Carol Vassar, podcast host/producer (22:31):
And this sounds like it’s all part and parcel of the stewardship program that Nemours is very invested in. Is that a correct statement, Laura?
Laura Baker, Nemours Children’s Health (22:41):
It is. The Genetic Testing Stewardship Program, like Louise mentioned earlier, has been in existence since 2018, and it has a couple different goals. The first is to make sure that genetic testing is used in a medically appropriate fashion, and in a cost-effective way. We want to make sure that patients are getting the right test at the right time for whatever the specific question is that’s being asked. This is a genetic counselor-driven program, so it’s a little bit of a different model to genetic healthcare than is traditional, where a genetic counselor typically works with a medical geneticist. We, instead, collaborate with non-genetics sub-specialists to make sure that their patients have access to appropriate genetic testing. So we do offer face-to-face genetic counseling services. We do collect a lot of data about utilization of genetic testing in the organization to make sure that it’s being used appropriately.
And then, we partner with various groups in the institution to make sure that processes are in place to ensure things like privacy are in check, or that results are getting into the electronic medical record, or that orders are easy for physicians to place. So we participate in a lot of continuous improvement as well.
Karen Gripp, MD, Nemours Children’s Health (23:50):
I think in regards to the Genetic Testing Stewardship Program, it’s important to stress how helpful it has been not only to the families who get the most cost-effective care in the most convenient way, but also to the providers because they have access to these genetic counselors who can answer their questions and who can direct them in many different ways. Not necessarily only focused on one patient, one test, but also to give some guidance to say this patient might be better served by seeing the medical genetic service and get a full evaluation. So I think the Genetic Testing Stewardship Program has been a huge win for Nemours in terms of satisfaction and efficiencies all around, and based on our information, it has also been hugely cost-effective for Nemours. So it’s a win all around.
Carol Vassar, podcast host/producer (24:43):
Is there a patient story that sticks with you that really inspires the work that you are doing here in precision medicine with genetics? Louise?
Louise Amlie-Wolf, Nemours Children’s Health (24:53):
I have several examples of ways in which we have really helped to improve the medical management of our patients based off of our services. A big example is in the children who present with recurrent infections where there’s a suspicion for immune deficiency. So there have been at least two babies, if not more, where we have done this genetic testing and identified that they do indeed have a genetic immune deficiency. And because of this, it allowed us to determine they have a high risk of developing future severe infections. So without medical treatment, they could die from an infection in the future.
And so because we were able to diagnose this immune deficiency through genetic testing, which would’ve been very difficult to determine without genetic testing, we were able to identify this and provide them with a bone marrow transplant. And I have multiple cases where this bone marrow transplant has led to the patient being able to be infection free and to survive this immune deficiency when pre-bone marrow transplant, they maybe would not have been able to. So this is a very strong example of genetic testing, helping to lead to a procedure that helped to extend their life.
Laura Baker, Nemours Children’s Health (26:06):
Can I just jump in Louise and highlight what a good collaborative example that is of a genetic counselor working with allergy immunology as well as the bone marrow transplant team? So really, a genetic counselor can act as a home base for helping the various subspecialties understand the genetic test results in order to help manage that patient.
Louise Amlie-Wolf, Nemours Children’s Health (26:27):
And the genetic testing really was integral in diagnosing those conditions because there’s so many factors that go into the immune system. And so it would’ve been very difficult with standard immuno-pheno-typing to have identified that they have this. So this was really the best way and the fastest way to make this diagnosis for those patients.
And then a really strong example I think of was working with a nephrologist and the pediatrician where an infant presented to the emergency department with failure to thrive and was found to have various differences in their kidney, as well as some different endocrine differences. And we’ve found that this baby had an enzyme deficiency affecting the kidney. And so if he wasn’t treated, he would basically have this buildup of crystals in his kidney and in his other organs that could lead to organ failure and lead to death. But because we identified this, he was able to go on a medication to remove those crystals and prevent further kidney damage. And so we identified this very early on before significant organ damage occurred and allowed him to go without a kidney transplant or the need for kidney dialysis. And he’s doing very well now several years later, and hasn’t needed to have those procedures that he may have presented in extreme need of if we hadn’t identified that he had this genetic condition.
So we have lots of examples like this of procedures being able to be avoided or procedures able to be provided that would help to reduce the actual sequelae or symptoms of that significant genetic condition. And because the collaboration was available with those providers, we were able to get that testing done quickly in a cost-effective manner and diagnose them much earlier than they normally would have without genetic testing being available to them.
Carol Vassar, podcast host/producer (28:18):
Thanks for listening to this episode on Genetic Medicine and Counseling for Kids with me, Carol Vasser, and our guests, Dr. Karen Gripp, Laura Baker, and Louise Amlie-Wolf. What are your thoughts? Is genetic medicine the future of medicine? How does it fit with the Nemours vision of Well Beyond Medicine?
Visit nemourswellbeyond.org to submit a comment or leave us a voicemail. While you’re there, check out our other episodes and subscribe to the podcast. Thanks to Cheryl Munn, Che Parker, Rachel Salis-Silverman, Benjamin Duong, and Savannah Pettit for this week’s production assistance. Join us next week when we’ll discuss Bio-banking at Nemours. Until then, remember, together, we can change children’s health for good Well Beyond Medicine.
MUSIC: Well Beyond Medicine (29:11)