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JHU Experts Urge Development of Panel, Guidelines for Pediatric Genetic Testing

Pediatricians, policymakers, and medical educators must convene a panel and create guidelines that will help integrate genetic testing into primary care pediatrics, a group of pediatric experts at Johns Hopkins University urge in an editorial published in the current issue of the Journal of the American Medical Association.
“Overwhelming evidence suggests that gene-environment interactions very early in development have profound effects on the emergence of adult diseases such as diabetes, cardiovascular disease, cancer, and psychiatric illness,” according to the editorial, “The Genetics Revolution and Primary Care Pediatrics.” 
“Clinicians who care for children will have the first opportunity to ‘predict’ and ‘preemptively’ intercede in the progression of these disorders, thus translating genetics to practice, policy, and communities,” the authors write.
However, in the adult population where genetic testing is booming, physician adoption, appropriate test validation, ethical marketing practices, and patient reluctance are major concerns. How will these issues be carried over to the pediatric population? Will physicians and parents be more resistant to genetic testing when it comes to children? Will companies be more reluctant to take on the risk of developing genetic tests specific to the pediatric population?
Pharmacogenomics Reporter spoke with Ronald Cohn, assistant professor of pediatrics at the Neurology and the McKusick-Nathans Institute of Genetic Medicine at JHU and one of the authors of the editorial, who describes how a team of JHU experts envision the infrastructure necessary for integrating genetic testing into children’s care.

For which conditions or indications do you feel pediatric genetic testing is ready for prime time?
In the long run, [genetic testing] will be applicable to many, many disorders or diseases, which a pediatrician sees in daily practice. One of the examples we are looking into more carefully for implementation for now would be, for example, an ear infection, or hepatitis B. There are several abnormalities in different genes that have been shown to be more prone to ear infections but also to also be related to how these ear infections relate to treatment. So, one can imagine, that if we would take this to the next level, and offer the pediatrician that quick genetic test to figure out, alright this is the third time this child has been in my office with an ear infection, and it’s difficult to get under control, which is something we see all the time in pediatrics – if you could figure out which patients could benefit from a different kind of antibiotic or may actually need some surgery, that would be a tremendous tool. Sometimes kids end up with tubes in their ears because it’s so difficult to get rid of their ear infection.
So, this kind of a genetic test would be something that is sooner available than other things because what the problem is, and one of the main reasons we wrote this editorial is that we feel that an unbelievable bulk of knowledge is coming out of these technologies. We are really in a position to know things today, which we didn’t think we would know five years ago. Somebody needs to take this and help bring it to the next level.
What that entails is we need to not only educate the pediatricians, but we also need to educate high school students and medical students. On top of all this there has to be some sort of committee that can make a sophisticated decision as to what kind of testing should be put forth, what kind of testing needs different kinds of research in order to make it really applicable to the patients. That’s the wake up call we wanted to make with this editorial.
Who would develop the guidelines?
This has to be a very thoughtful combination of several different boards, which may involve the American Board of Pediatrics, with scientists who develop genetic tests, clinicians who will be using some of these tests, and policymakers. This is an example of a group of people that need to sit together from all different fields, from the scientific side, as well as from the clinical side, and if we all work together then we can come up with very reasonable recommendations. If we all work together, then this will no longer be something in the realm of science fiction. This can happen. People just need to do it.
What I’m afraid of, as a pediatrician and a geneticist, is that companies may take advantage of all the knowledge and offer people all sorts of genetic testing and we find ourselves in a situation in which some people who have an interest and who have money get some results and still really don’t know what to do with it. And some people who don’t have money who want to get it can’t get it. There are so many problems associated with [genetic testing]. You cannot stop technology. You can only be proactive and make sure that it’s being used in an appropriate way.
There are companies that say they have identified biomarkers specific for pediatric diseases like autism, and are beginning to launch tests them. However, doctors don’t feel that many of these tests are ready to be marketed broadly and need more validation. Additionally, if a test shows one has an increased genetic risk for a disease where there are no interventions or cures then it might cause unnecessary anxiety. Because we are talking about children, do you think pediatricians may be more resistant to using genetic tests in these cases?
I think this is something that has to be considered, but I don’t think genetic testing is much different than what we do today in newborn screening. … So, why do you want to do newborn screening for something like cystic fibrosis or something like phenylketonuria, a metabolism disease, I need to know that. If I know that right away, I can implement changes and lifestyle changes that can prevent mental retardation, which can change the disease course.
Then there are tests out there where you want to consider is it really necessary to do genetic screening for something we can’t do anything about anyway. But then this is exactly something you have to discuss, because you’ll be surprised to see how many different angles there are to this problem. I’ve been surprised to see that some diseases where I feel like I know that these children are going to die in two years, why would somebody want to know, why would we put efforts into newborn screening? People and parents’ organizations have different views on this. But that’s exactly what I mean. If we’re willing to come up with a panel of experts who are willing to spend time trying to synthesize all of this, then we can deliver something for the betterment of everyone.
What do you envision the US Food and Drug Administrations’ role would be in developing these guidelines?
A very active one. This obviously can’t happen without the FDA. I don’t think the FDA has to be involved in all the initial discussions, because that would probably be unreasonable to expect. But I think once recommendations are made by a panel, the FDA has to be part of that group to make a final recommendation.
Are you aware of any genetic tests for children that have been approved by the FDA?
Not for children. One of the things that has been recently approved is [Roche’s] AmpliChip [CYP450 test]. The role of the FDA was very beneficial there. I am not sure how much we can use [AmpliChip] for children’s indications, but I’m exploring this as a matter of fact right now. I think it may be tremendously helpful for certain people, even in the pediatrics world.
Has Roche or any other company expressed interest in marketing genetic tests for pediatric diseases? Is this a growing market?
I have talked to a couple of companies, which I cannot name right now. Interestingly enough, everyone realizes that this is growing market and that there is a need, but there is also a general hesitation towards moving things forward alone. I think there is a real need right now to have people work together. I think no one wants to take on the time and money risk to do it all on their own.
Many companies market genetic tests for adults. Why do you think companies are hesitant to create genetic tests for kids?
I think this is a problem for the pediatrics population because we have to change the way we think about medicine and that often doesn’t happen first in pediatrics. That happens first, most of the time, in adult medicine. I think genetic testing often happens for adult cancer. The cancer population has been in a much different position in terms of genetic testing than pediatrics. I think that it’s a matter of education and awareness.
The FDA and companies still cite physician reluctance as a major barrier to genetic testing. How do you think that pediatricians need to be educated regarding genetic testing for children?
There needs to be changes to medical school curriculums. This is happening at several medical schools, including Johns Hopkins. Our new medical school curriculum is called “From Genes to Society.” It is actually about implementing the educational thought process of personalized medicine on every level. This is where you have to start. With the people who actually practice medicine today, you have to go around and talk about it. You go around to pediatricians … and you talk about this is what is currently out there and this is what we can do with this. We are about to organize a very big CME course for primary care physicians, not just pediatricians but also internal medicine, about how genetics is going to play a role in medicine. And these are the ways how you create awareness.
In the statement promoting your editorial, the Hopkins authors say that the medical community ‘needs to figure out ways to streamline and regulate what is happening before it mushrooms out of control.’ Could you elaborate on that?
Barton Childs, who is really one of the fathers of personalized medicine, once told me: ‘Whether we want it to or not, all the genetic knowledge is going to hit us like a monsoon.’ And that’s why we need to be ready and why we need to be aware.

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