TRANSCRIPT:
Danielle Lemke (00:00): Genetic counselors are advanced trained medical professionals in the area of human genetics and counseling techniques, and they have specific training and experience to help individuals and families make decisions regarding their genetic health. And to ensure that a person in their family are receiving the right tests at the right time.
Jason Benetti (00:22): Welcome to Let's Talk CP, the new podcast series about all things cerebral palsy. Presented by The Cerebral Palsy Foundation. Each episode features different clinicians, parents, people with CP and other experts talking about ways to help you better navigate your journey with CP. I'm Jason Benetti, play-by-play announcer of the Chicago White Sox and ESPN. And I have CP.
Cynthia Frisina (00:49): And I'm Cynthia Frisina, a mother of a daughter with cerebral palsy and the vice president of partnerships for The Cerebral Palsy Foundation. We are so excited today to talk more about genetics and the role that that can play in cerebral palsy. We have many, many questions that come from families in our community on this topic. And so today I wanted to have a great guest on, Danielle Lemke, who is a licensed board certified genetic counselor, to talk to us and answer our questions about this topic. So Danielle, welcome. We're so glad to have you.
Danielle Lemke (01:28): And currently I am working for Genome Medical, providing telehealth genetic counseling.
Cynthia Frisina (01:35): Thank you. You so much for being with us, Danielle. I mean, as I mentioned, this whole topic of genetics and the role that it might play in cerebral palsy is one that is getting increasing attention. And we're really glad to be able to have you on to answer more questions. I think in terms of our community and our audience, one really basic question is what is the role of a genetic counselor? We have not had a genetic counselor on our podcast before, so I think it would be great for everyone to hear a little bit about what a genetic counselor does.
Danielle Lemke (02:13): One of the main roles of a genetic counselor is to help a family determine if there is a genetic condition in a person, or like I said, in a family. And that includes providing information about how a hereditary genetic condition may be affecting a person or other people in the family. Along with that is discussing the best testing options for an individual or family, the process of that genetic testing, possible test results that can come back if genetic testing is pursued. And then once the test results are back, a genetic counselor can help with medical management recommendations and also assist with medical decision-making. So kind in a long story short, they are medical professionals who can help determine if there's a genetic condition in your family, what that might be, best way to test for it and explain all of this in general terms and guide a family or individual through the process.
Cynthia Frisina (03:16): That is such great information. I think families with someone in their family who has been diagnosed with cerebral palsy may not be familiar with what genetic testing actually is or what it even involves. Would you mind telling us and sharing just a little bit about what genetic testing is?
Danielle Lemke (03:36): Absolutely. And actually genetic testing has come kind of a long way within the past five years. It used to be just a blood sample, but now we can test the genetic material through blood or saliva or a tissue sample. So particularly for children or pediatrics, it's become a lot easier to get a sample, to do the DNA testing, because we can use a cheek swab or even a saliva sample for older children. And genetic testing evaluates the letters of your DNA or your genetic code, which is essentially your blueprint of how your body grows and develops. And what it's looking for are spelling changes within that DNA code. And it might also evaluate the number of copies of regions in your DNA.
Cynthia Frisina (04:27): Wow. That sounds really kind of new for this field. I think a lot of families have in the past, but in particular have received a diagnosis of cerebral palsy without anyone mentioning that maybe they should be considering some genetic testing. So I think it would be really useful for our families and our community to hear from you about when a family might want to consult with a genetic counselor and consider genetic testing.
Danielle Lemke (04:59): Genetic counselors are advanced trained medical professionals in the area of human genetics and counseling techniques, and they have specific training and experience to help individuals and families make decisions regarding their genetic health and to ensure that a person and their family are receiving the right tests at the right time. And like I said before, can guide you and your family through the testing process. A genetic counselor can explain the test results to you, help you understand what they mean, how the test results affect your medical management and or next steps in testing and the possible implications for your family members.
Cynthia Frisina (05:42): Is there a particular sort of set of circumstances that you would recommend a family consider as they think about maybe coming to see or making an appointment with a genetic counselor? I mean, many, many families and the majority of CP diagnoses are told that they're as a result of a brain injury to the developing brain. But what could be a genetic cause of cerebral palsy?
Danielle Lemke (06:17): That is an excellent question. Current estimates are that approximately 30%, and in some cases up to 50%, of cerebral palsy diagnoses may actually be due to a genetic cause.
Cynthia Frisina (06:31): Wow.
Danielle Lemke (06:33): Yeah. Our genetic testing has gotten a lot better over the years. And so for some families who were last seen by genetics, maybe five to 10 years ago, they may benefit from returning to a genetic counselor or a genetic clinic for genetic testing, because we've had great advances in the past few years and lower costs of testing for a lot of these genetic tests that are available. So there are a few different types of genetic testing options that are available. The first would be to look for what we call poppy number variants, which are deletions and duplications in the DNA. So that would be through a test called a chromosomal micro array, which is called CMA for short.
Danielle Lemke (07:22): The CMA is a broad scan through the genetic material or DNA code. And it's looking for any missing or extra pieces of DNA, which like I said, are called the deletions or duplications. And if a person has a particular deletion or duplication, they may have a higher chance for health or developmental concerns compared to the general population. The other types of testing that are available is to look for single gene variants. So that would be through testing such as a CP panel or exome sequencing. A CP panel would look at a collection of genes known or suspected to have a role in the development of CP. And this type of test would look for spelling changes within these genes as a possible cause for the person's symptoms. And then exome sequencing is a very broad test evaluating all of the genes and the exome, which is the portion of the DNA that provides instructions for how our body grows and develops. And this test would report on genetic changes in any gene known to have a role in genetic conditions and would also include any of the targeted CP genes.
Cynthia Frisina (08:40): Wow. That is a lot of great information. For sure. And for all of our listeners, we will be putting all of this information in our show notes, along with links, so that you can learn more in case you're all trying to take notes right now. That's a lot to take in. But I think a really important question that families have is if you have a child, a young child with CP and you've received that diagnosis, are there certain things you should be looking for? How would you know whether you should even consider going to see a genetic counselor or having genetic testing? I mean, should everyone do that? Are there certain signs or things that a family should be looking for that would give them a reason that they should pursue genetic testing further?
Danielle Lemke (09:35): I think if any person has any questions regarding if there is a genetic condition in one of their family members or in their family, they can definitely call any sort of genetic counseling provider. There are a lot of different telehealth options now. And just ask if they think that their certain situation regarding their child or their family would warrant genetic counseling or genetic testing. And then as far as CP is concerned, if an individual has a diagnosis of cerebral palsy, but there's really no known brain injury or health complication that you would typically think would lead to cerebral palsy, then in that instance, that would be a great indication for a person to see a genetic counselor or a genetic clinic. Also, if there is multiple signings where a family or medical providers don't feel that it's just CP, that there might be something else that's kind of going along with the symptoms of that person, another great indication to see, or even just ask a genetic counselor if having a genetic consultation is warranted in that instance.
Cynthia Frisina (10:52): That's really helpful information for families. So let's assume then a family has decided, or has been recommended to visit a genetic counselor. What would a typical visit be like? And are you doing virtual appointments? Is that the way they're being done right now? What would a family expect if they make an appointment?
Danielle Lemke (11:19): Virtual and in-person are happening, and they're actually becoming more and more alike due to advances in telehealth technology. With most telehealth services, which I feel like a lot of people have gotten used to in the COVID-19 times, video conferencing is conducted over a HIPAA compliant platform, such as Zoom, or people can also elect a telephone consultation. In either a virtual or in-person genetic counseling visit, they have mostly the same components. First and foremost is establishing goals for the visit. To see what the family is interested in as far as their concerns for their child or their family member, if they are interested in testing, or they just want information. And then we typically start with a medical or developmental history intake. Particularly with children, we do a more in depth developmental history. Obviously not as much if it was an adult patient. And then kind of unique to genetics is we collect detailed family history.
Danielle Lemke (12:27): So we often draw a pedigree or a family tree. And then based on that information, we can discuss inheritance pattern, the symptoms of the individual or in the family, and put all of that together and discuss a suspected diagnosis. And then based on that, we talk about appropriate genetic testing options, the best person in the family to test, because actually sometimes it's not the person who is seeking out genetic counseling. Sometimes it's someone else in the family who would be the best person to start testing with. What is the best genetic testing option, the testing plan. And then one of the big things we talk about is informed consent for genetic testing. The testing process, like I said, as far as sample collection, how that's going to work, is it going to be a sample collection kit that's sent to the house. Would the family rather go into a local hospital or clinic to get a blood draw. The possible test results that can come back from that genetic testing. Implications of the test result for the person, but also for the family members. And then the plan of returning of the results.
Danielle Lemke (13:40): And then on the backend, typically there is a followup appointment to discuss the results and the management implications based on those results. So it's a discussion and explanation of the results. If anyone has ever seen a genetic test report, there's a lot of jargon on there. So the role of a genetic counselor is to help a person understand that and interpret that medical jargon into, "Normal speak." What results mean, the next step in testing, or the change in the medical management based on the results. And then once again, potentially coordinating followup familial testing based on those test results.
Cynthia Frisina (14:24): Wow. That's really helpful. Now, the question, I know a lot of our listeners and families probably are asking right now. That all sounds great, but how much does it cost? Is that covered by insurance? What should families know about that?
Danielle Lemke (14:44): Access to genetic counselors is increasing dramatically and they are often incorporated into standard healthcare programs or health systems. And a lot of genetic testing laboratories actually have genetic counselors as well. And then, like I said, there's kind of been an increase in the telehealth genetic counseling services that offers nationwide remote services, which is particularly helpful for families who live in rural locations or they live in an area where there is a lengthy wait time in order to get into a genetics appointment. So basically you can ask for a referral to a genetic counselor in your area or remotely for a telehealth genetic counseling service from your primary care provider or one of your doctors. Because typically we need your medical records as part of the referral process and knowing why the person and their family is coming to genetics.
Danielle Lemke (15:45): Some people may choose to self-refer. This depends on a person's particular health benefits or ability to self pay. The easiest way to find a genetic counselor in your area is through The National Society of Genetic Counselors website. But getting to the cost question. An increasing number of insurance companies cover the cost of genetic counseling and actually may require a genetic counseling consultation prior to approving testing through the insurance. Costs may vary. And so I would say just to be safe, check your insurance coverage. And also with telehealth genetic counseling services, they may have an upfront flat fee, which you can probably see on their website, or you can get information about if you were to make an appointment. Oftentimes the upfront fee can be submitted to your FSA or HSA. Again, cost may vary depending on what service it is. And I would say check with your insurance provider.
Cynthia Frisina (16:50): That's great. And we will also put those links and that information in our show notes on this podcast, on our website, cpresource.org, so that you will be able to access that if you're listening and want to learn more about this topic. So that's very helpful. Danielle, one test or one assessment that we have heard about and would love for you to talk about a little bit more and explain it is PTC Pinpoint Direct by PTC Therapeutics. Can you share a little bit about that and how someone might access that or know if they are eligible?
Danielle Lemke (17:33): Absolutely. PTC is a science driven biopharmaceutical company, and they have created the PTC Pinpoint Direct program, which is a collaboration sponsored by PTC Therapeutics, and offers access to genetic counseling and program administration. And then having genetic testing services, and so you can access this program and I'm sure you'll link that information. But basically the eligibility for this is if your child has symptoms or a diagnosis of CP, but also does not have any known brain injury or other health complication that would lead to the CP symptoms. Through this program, you would meet with a genetic counselor and then the genetic counselor would walk you through your testing options, one of which includes the CP panel. However, I will say, if you go on the program website and take the brief survey to see if your child does or does not qualify for this diagnosis, it may also still be helpful to consult with a genetic counselor to see if genetic testing is appropriate, even if not directly through this program.
Cynthia Frisina (19:02): So is the PTC Pinpoint Direct program looking for something specific? Is there a particular genetic cause? Because I understand there's several different things that could be genetic causes of CP, but is the PTC program looking at just one of them or is it a broader screen?
Danielle Lemke (19:26): Through the PTC Pinpoint Direct program, they are doing broader type testing through the CP panel. So looking at a collection of genes that may cause cerebral palsy. However, they are focusing on one particular type of genetic condition, which is tested for on that panel, which is AADC deficiency. And basically if a person were to have AADC deficiency, through PTC they may have treatment options now or in the future. However, kind of going back to your original question, they are starting with the broader based testing panel.
Cynthia Frisina (20:12): That's great. What does AADC deficiency... What does that stand for? What does it mean?
Danielle Lemke (20:17): AADC deficiency is aromatic L-amino acid decarboxylase deficiency.
Cynthia Frisina (20:25): Wow. That is a mouthful.
Danielle Lemke (20:27): Yes.
Cynthia Frisina (20:28): We will put that on our website.
Danielle Lemke (20:31): Yeah. Essentially, it's just easier to say AADC deficiency. But that is a condition that is an inborn error of metabolism. So it's a change in the way that the body breaks down an enzyme in the biochemical pathway. And long story short, if a person were to have AADC deficiency, there are medical management guidelines that have been published. And then they are working on a therapeutic drug or gene therapy to kind of go along with that. But that is kind of the direction that genetics is going now in that when we do identify genes that can cause a genetic condition, we, the scientific community is working more and more towards targeted treatments or therapies for those genetic conditions.
Cynthia Frisina (21:24): That's obviously extremely exciting for families, especially in light of the fact, historically families who've received a diagnosis for their loved one of cerebral palsy have been told there's no treatment, no cure, nothing like that. So to know, even though something like AADC is rare or uncommon, which I'm assuming that it is, it's nice, it's wonderful actually, to hear that there's so much more research being done in this area and potential treatments if someone does turn out to have some sort of genetic cause for their CP. Which is great, and that's why we wanted to have you on today. So, that's fantastic. Is there anything else that families should know about this particular AADC deficiency or the PTC Pinpoint Direct program or genetic testing in general?
Danielle Lemke (22:26): Meeting with our genetic counselor to go through their child's personal history and family history would probably be beneficial because a genetic counselor will tell you if genetic testing would be helpful in that instance, or if they think that it wouldn't, and then discussing all of the different options. And I will say that genetic counseling does not necessarily directly mean genetic testing. Families oftentimes will meet with a genetic counselor and see that genetic testing isn't something that they're interested at that point or isn't recommended at that point. And that's totally okay. You can definitely make a follow-up appointment when, and if they're ready to pursue genetic testing.
Danielle Lemke (23:05): We're here just to help with translating super complex genetic information into information that the general public can use. And we're... No pokes as well. I will say that. A lot of times families will say, "Well, I don't want to go to a genetic counselor." Their child doesn't want to go see a genetic counselor because they'll get poked or prodded. And absolutely no pokes. We just do a lot of talking.
Cynthia Frisina (23:28): That's really good information. Our families will definitely love to hear that as well. I should have asked that right at the beginning.
Danielle Lemke (23:35): Right.
Cynthia Frisina (23:36): And I think you've done a great job of taking very complex information and making it much more understandable. And we will include all of this information on our website, cpresource.org, as well as in the show notes for this podcast, which can be found on all your favorite podcast platforms. And before we sign off, Danielle, I just want to thank you so much for joining us today on Let's Talk CP, the podcast for the cerebral palsy community. This kind of information is the information that our community is really looking for. And we love to hear new advances and what's coming next and research and all of this. So thank you for joining us today. And we also want to thank our sponsor for this episode, PTC Therapeutics. PTC Therapeutics is dedicated to extending life's moments for patients with rare diseases and their loved ones. PTC works closely with patients, caregivers, and advocacy groups to offer support, connection and resources that address the needs of patients with rare diseases.
Jason Benetti (24:48): Thanks for joining us for this episode of Let's Talk CP. I'm Jason Benetti, CPF ambassador and sports television announcer. If you like our show and want to know more, please visit our new CP resource page at cpresource.org, where you can listen to all of our episodes and subscribe so you'll never miss a show. While you're at it, if you found value in Let's Talk CP, we'd appreciate a rating. And please tell a friend or another family member about the show to help others and increase cerebral palsy awareness and education. Be sure to tune in to Let's Talk CP for our next episode.
Cynthia Frisina (25:26): This podcast represents the opinions of our guests and the content should not be taken as medical advice. Each person and situation is unique, so please consult your healthcare professionals for any medical questions.