When should families consider bringing their child to see a medical geneticist?
Learn more from Dr. William Wilson, a UVA specialist in pediatric genetics.
When Should Your Child See a Pediatric Geneticist?
Featured Speaker:
William Wilson, MD
Dr. William Wilson is board certified in pediatrics and medical genetics and specializes in caring for children with genetic conditions. Transcription:
When Should Your Child See a Pediatric Geneticist?
Melanie Cole (Host): Fortunately, most children are born healthy with no medical problems or birth defects. However, there are some instances where your family might consider bringing their child to see a medical geneticist. When might that occur? My guest is Dr. William Wilson. He’s board certified in pediatrics and medical genetics and specializes in caring for children with genetic conditions. Welcome to the show Dr. Wilson. Tell us a little bit about what a pediatric geneticist does.
Dr. William Wilson (Guest): Pediatric geneticists see a wide range of patients. Actually, most geneticists are in fact pediatricians, but we also see adults because our training is both in genetic conditions in children and in adults. We diagnose patients. We see patients who are referred because of family histories, because of findings of biochemical disorders, or newborn screening or in subsequent testing. Frequently we see patients whose families just have questions about what is going on with their children, what the diagnosis might be, what they might expect and what this might imply for other family members and potentially future children.
Melanie: Tell us, Dr. Wilson, what types of conditions do you help evaluate?
Dr. Wilson: We see a wide range of children and adults. Again, we see primarily children, but we also see adults, as medical geneticists are trained in both pediatric and adult genetics. We see children with birth defects, growth issues, sometimes learning issues, problems like autism, suspected biochemical disorders, abnormalities on newborn screening test that all children in Virginia get. We also see adults with similar sorts of issues or with positive family histories or findings that might suggest a genetic disease that may have some more specific diagnostic testing available.
Melanie: What would make somebody decide to come to see you for this evaluation? In some of the things that you’re talking about, yes, testing, that sort of thing with a child, we go to our pediatrician and then they say, “Well, you might want to go see a pediatric geneticist.” When an adult would see you, what would make them decide that “this is time, I need this evaluation”?
Dr. Wilson: One of the problems with genetics is that the knowledge base is expanding so rapidly right now. It’s very difficult for excellent primary care physicians and even excellent specialists who aren’t specifically geneticists to keep abreast of the changes in diagnosis and testing availability. We see about half of our patients who are referred by other physicians, either their primary care physician or other medical specialists, and about half come from initial family referrals because of something that they’ve heard about other family members, something they have read in the newspaper, seen on the Internet or television, and we are here primarily to make diagnosis and to share information with families.
Melanie: What do they do with the information that you then give them after an evaluation?
Dr. Wilson: Well, it depends on what the specific situation is. Sometimes, we make diagnosis of conditions that have some complicated medical implications or perhaps involving other organ systems that may not have been considered, and somehow, if we can help with case management, we can help the primary physicians in terms of other specialty referrals that might be appropriate. We’re primarily involved in making diagnosis and giving the information. What we don’t is usually tell people what to do, because sometimes these are very difficult situations in terms of deciding who gets tested, what people want to do with the information, if in fact, they don’t what to have that information, and so we try not to force anything on our patients, but really give them information and try to help them make informed decisions.
Melanie: Dr. Wilson, as you stated earlier, the field of genetics is exploding right now. It is huge. People are looking for genetic markers and everything from family risk of breast cancer and congenital heart disease, hypercholesterolemia, all of these things with genetic markers. What do you tell people about that decision to even see a geneticist, to even find out what they might possibly be at risk for? As you say, some people don’t know if they even want that information. What do you say to people questioning this?
Dr. Wilson: Sometimes, before we do the testing, we actually discuss the test results before they come out, before we even start the testing process actually, and talk about the implications. Many tests are not perfect. Most tests are not perfect. There are certainly genetic conditions for which we do not have a reliable genetic marker, and then there are other genetic conditions where we have genetic markers and yet the implication of finding that particular change may vary from one patient or even one family member to another. We try to give people a notion of what they’re getting in for, in terms of information and what kinds of issues, even having the testing information right there for them.
Melanie: Is the testing information public? If somebody gets some kind of genetic information, is that now something that insurance companies can look up and find out?
Dr. Wilson: You’ve asked a very good question. There is a federal law called the Genetics Information Nondiscrimination Act that is supposed to protect the patient’s use of genetic testing information. Genetic testing information is part of the medical record, like any other physical finding or any other piece of laboratory information. Thus far, I’m not aware of patients who have problems with having the genetic information per se, but it is a concern that sometimes having that piece of information might be disadvantageous to certain individuals in certain situations.
Melanie: What else would you like to tell families, in just the last few minutes, Dr. Wilson, about genetic testing and specifically, pediatric genetics, if their children have some issue that they would like to get tested for, and why should families come to UVA for evaluation of pediatric genetic conditions?
Dr. Wilson: I think the most important thing is to discuss the possibility of seeing a geneticist with your primary care physician because sometimes that physician can provide us with some information in pediatric cases, like growth charts or medical information, etcetera, that might help us in seeing the patient and make the visit more efficient for the family and make the use of the patient’s time much more productive. Some families see us primarily without referral from physicians because of family history and concerns, and I think it’s important to try to get as much family information before you come because then that’s more going to be helpful for us in trying to figure out if there’s a pattern in the family, if there are clues that might lead us to a specific diagnosis or might help guide us in what we might suggest to the family for testing. Why come to UVA? One of the great things I like about being at UVA, and I’ve been here for over 35 years, is we work together very well. We have excellent pediatric and adult specialists and subspecialists and we really work in a collaborative, cooperative fashion. I think this really makes the care of patients much more efficient, much more streamlined, and much more effective for the families.
Melanie: Thank you so much. It’s an absolutely fascinating field of study and field of medicine. Thank you so much for being with us today. You are listening to UVA Health Systems Radio. For more information, you can go to uvahealth.com. That’s uvahealth.com. This is Melanie Cole. Thanks so much for listening day.
When Should Your Child See a Pediatric Geneticist?
Melanie Cole (Host): Fortunately, most children are born healthy with no medical problems or birth defects. However, there are some instances where your family might consider bringing their child to see a medical geneticist. When might that occur? My guest is Dr. William Wilson. He’s board certified in pediatrics and medical genetics and specializes in caring for children with genetic conditions. Welcome to the show Dr. Wilson. Tell us a little bit about what a pediatric geneticist does.
Dr. William Wilson (Guest): Pediatric geneticists see a wide range of patients. Actually, most geneticists are in fact pediatricians, but we also see adults because our training is both in genetic conditions in children and in adults. We diagnose patients. We see patients who are referred because of family histories, because of findings of biochemical disorders, or newborn screening or in subsequent testing. Frequently we see patients whose families just have questions about what is going on with their children, what the diagnosis might be, what they might expect and what this might imply for other family members and potentially future children.
Melanie: Tell us, Dr. Wilson, what types of conditions do you help evaluate?
Dr. Wilson: We see a wide range of children and adults. Again, we see primarily children, but we also see adults, as medical geneticists are trained in both pediatric and adult genetics. We see children with birth defects, growth issues, sometimes learning issues, problems like autism, suspected biochemical disorders, abnormalities on newborn screening test that all children in Virginia get. We also see adults with similar sorts of issues or with positive family histories or findings that might suggest a genetic disease that may have some more specific diagnostic testing available.
Melanie: What would make somebody decide to come to see you for this evaluation? In some of the things that you’re talking about, yes, testing, that sort of thing with a child, we go to our pediatrician and then they say, “Well, you might want to go see a pediatric geneticist.” When an adult would see you, what would make them decide that “this is time, I need this evaluation”?
Dr. Wilson: One of the problems with genetics is that the knowledge base is expanding so rapidly right now. It’s very difficult for excellent primary care physicians and even excellent specialists who aren’t specifically geneticists to keep abreast of the changes in diagnosis and testing availability. We see about half of our patients who are referred by other physicians, either their primary care physician or other medical specialists, and about half come from initial family referrals because of something that they’ve heard about other family members, something they have read in the newspaper, seen on the Internet or television, and we are here primarily to make diagnosis and to share information with families.
Melanie: What do they do with the information that you then give them after an evaluation?
Dr. Wilson: Well, it depends on what the specific situation is. Sometimes, we make diagnosis of conditions that have some complicated medical implications or perhaps involving other organ systems that may not have been considered, and somehow, if we can help with case management, we can help the primary physicians in terms of other specialty referrals that might be appropriate. We’re primarily involved in making diagnosis and giving the information. What we don’t is usually tell people what to do, because sometimes these are very difficult situations in terms of deciding who gets tested, what people want to do with the information, if in fact, they don’t what to have that information, and so we try not to force anything on our patients, but really give them information and try to help them make informed decisions.
Melanie: Dr. Wilson, as you stated earlier, the field of genetics is exploding right now. It is huge. People are looking for genetic markers and everything from family risk of breast cancer and congenital heart disease, hypercholesterolemia, all of these things with genetic markers. What do you tell people about that decision to even see a geneticist, to even find out what they might possibly be at risk for? As you say, some people don’t know if they even want that information. What do you say to people questioning this?
Dr. Wilson: Sometimes, before we do the testing, we actually discuss the test results before they come out, before we even start the testing process actually, and talk about the implications. Many tests are not perfect. Most tests are not perfect. There are certainly genetic conditions for which we do not have a reliable genetic marker, and then there are other genetic conditions where we have genetic markers and yet the implication of finding that particular change may vary from one patient or even one family member to another. We try to give people a notion of what they’re getting in for, in terms of information and what kinds of issues, even having the testing information right there for them.
Melanie: Is the testing information public? If somebody gets some kind of genetic information, is that now something that insurance companies can look up and find out?
Dr. Wilson: You’ve asked a very good question. There is a federal law called the Genetics Information Nondiscrimination Act that is supposed to protect the patient’s use of genetic testing information. Genetic testing information is part of the medical record, like any other physical finding or any other piece of laboratory information. Thus far, I’m not aware of patients who have problems with having the genetic information per se, but it is a concern that sometimes having that piece of information might be disadvantageous to certain individuals in certain situations.
Melanie: What else would you like to tell families, in just the last few minutes, Dr. Wilson, about genetic testing and specifically, pediatric genetics, if their children have some issue that they would like to get tested for, and why should families come to UVA for evaluation of pediatric genetic conditions?
Dr. Wilson: I think the most important thing is to discuss the possibility of seeing a geneticist with your primary care physician because sometimes that physician can provide us with some information in pediatric cases, like growth charts or medical information, etcetera, that might help us in seeing the patient and make the visit more efficient for the family and make the use of the patient’s time much more productive. Some families see us primarily without referral from physicians because of family history and concerns, and I think it’s important to try to get as much family information before you come because then that’s more going to be helpful for us in trying to figure out if there’s a pattern in the family, if there are clues that might lead us to a specific diagnosis or might help guide us in what we might suggest to the family for testing. Why come to UVA? One of the great things I like about being at UVA, and I’ve been here for over 35 years, is we work together very well. We have excellent pediatric and adult specialists and subspecialists and we really work in a collaborative, cooperative fashion. I think this really makes the care of patients much more efficient, much more streamlined, and much more effective for the families.
Melanie: Thank you so much. It’s an absolutely fascinating field of study and field of medicine. Thank you so much for being with us today. You are listening to UVA Health Systems Radio. For more information, you can go to uvahealth.com. That’s uvahealth.com. This is Melanie Cole. Thanks so much for listening day.