Rare Diseases -- Not Just for Geneticists Anymore

Marshall L. Summar, MD; Robert Saul, MD


February 24, 2016

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Marshall L. Summar, MD: Hi. I'm Dr Marshall Summar, director of genetics and metabolism at Children's National Medical Center. I'm doing some interviews for Medscape about rare diseases, here at the NORD [National Organization for Rare Disorders] summit. With me today is Dr Bob Saul, the director of pediatrics at Greenville Memorial Hospital. Dr Saul, thank you so much for taking some time to speak with me today.

Robert Saul, MD: You're very welcome. Glad to be here.

The Need for Better Education Across the Board

Dr Summar: You've got a history of being an expert in medical education and issues around rare diseases in genetics. We have that in common, with both of us having a background there. One issue that keeps coming up is how we can educate the general medical community about rare diseases as they're exploding into common practice. What are some issues that you see there?

Dr Saul: I was part of the initiative of the American Academy of Pediatrics called Genetics in Primary Care. One of the big issues was education. We tried to break it down in terms of continuing medical education vs maintenance of certification. We actually think that it's across the spectrum. We think it's undergraduate education and then graduate medical education. We think it's residency, then continuing medical education, and then maintenance of certification. We think we've sort of lost some of our focus. It needs to be across the spectrum; if we try to address just one narrow region or one area, we've lost what we need to do.

Dr Summar: I certainly agree with you. There are a lot of data showing that there are 7000 rare diseases. They affect 8%-10% of the population. I would say that the disease burden in pediatrics is somewhat disproportionate. What can we do to better address that? What are our future steps for teaching our young doctors and our doctors in practice about these rare disorders?

Dr Saul: We came up with a tool kit that we are trying to develop for residents. It's still in the development stages. We think a lot of the effort needs to be on residents—not to teach the residents to identify rare condition X or rare condition Y, but to identify when things are not normal, what the next course of action should be, and how to get there. We sometimes get so focused on the common things that take up much of our time and energy, such as infectious diseases. I don't want to belittle that at all because that's the bread and butter of primary care. However, in many ways, I think that genetics is the infectious disease of the 21st century. Infectious disease was what took over the 20th century, and we are doing so much better in terms of vaccines and everything else. I think genetics should fill that role in the 21st century.

The Transition From Pediatrics to Adult Care and Related Educational Gaps

Dr Summar: That's a great analogy. Another thing that we've observed is that we've done a better job of keeping our patients with rare diseases alive and getting them through their childhood. Now they are starting to hit their teens, twenties, and thirties. How do you think we're going to transition to adult care? Are we doing a good job with it? Do we have some gaps? What do you think is going on?

Dr Saul: I think we're doing better than we did, but we still have huge gaps. We still have a long way to go in terms of being able to make the transition from pediatric care to adult care. Most of the pediatricians feel comfortable with treating their patients until young adulthood, but most of the internal medicine physicians or family practice physicians don't feel comfortable taking on the adult care. As a transition basis, it has to happen. We just don't do a good job of it.

Dr Summar: I'd like you to pull out your crystal ball a little bit. Obviously, you are a geneticist who has come back to general pediatrics. You could almost say that genetics is in some ways like highly specialized general pediatrics. What are some of the educational gaps—we've kind of outlined some broad strokes—for physicians who are interested in learning more about this? Where would you say that they ought to start bringing some of their focus, and what should they be looking at? Diagnostic testing? Genetic testing? Biochemistry? Where do you think some of the gaps are that people can start to fill in?

Dr Saul: I guess my bias, even before testing, is knowing your history-taking and physical examination skills. Unless you know how to take a good history and then do that physical examination and know where you're going, you're not going to know how to decide on testing, whether it be biochemical, molecular, or whatever. That's where I think we still don't do as well as we should. In this modern technological era, we get too excited about going to the next test instead of listening to the patient and figuring out where to go from there. I try to tell medical students that the first genetic test is a pencil, and that's what draws the pedigree. With a pedigree based on your family history, you can decide where you need to go with testing.

I didn't answer your question directly, but I answered it in a different way.

Dr Summar: You answered it just exactly right.

I've heard it said once that you can have all the genetic testing in the world, but without a good phenotype and without a good clinical examination, it's like having a long lever with no fulcrum. Do you think that this is a good description?

Dr Saul: I think it's an excellent description. We also need to do a much better job of getting the changes in phenotype to primary care doctors. What has happened? You and I know how to recognize a patient with Down syndrome. But what has changed in the lives of patients with Down syndrome? They're much more likely to be engaged in school. They're much more likely to have survived their congenital heart disease surgery. They're much more likely to lead relatively normal life spans. Physicians who have been in practice for a while don't see that.

Dr Summar: Many of the textbooks will only describe the patients whose diseases are often quite severe, yet the reality of so many of these rare diseases is that patients are living longer and fuller lives. How do you teach that? How do you get someone to move beyond that single description of those very early cases into realizing that there is a lot more to it?

Dr Saul: I think a lot of it is in education in medical school. We need to get more live patients into medical school training. I was talking to some of my colleagues at this meeting about this. When I was in medical school many moons ago, we had patients all the time. In this HIPAA era, we've started getting away from that. I think we need to have more patients so that people can see the spectrum and see those people to understand what it's like to have Marfan syndrome, neurofibromatosis, glycogen storage disease, and all of the other things that we see.

Dr Summar: I couldn't agree with you more. I think there is a lot to be done around educational drives and design. Obviously, NORD, who is the sponsor of this summit, represents patient organizations. It's an opportunity for them to more actively engage in medical education.

Areas in Need of Improvement

Dr Summar: What else do you see coming down the pike from the standpoint of the general medical community in rare disease? Besides education, what else do they need to start thinking about?

Dr Saul: I don't know that we're there yet, but I'd like to see better integration of the electronic health record into patient evaluations. That is, even if we have a diagnosis of a rare and unusual disease, we don't track it very well within our electronic health records in terms of making sure that we're doing the various things that we should be doing.

Dr Summar: I recently had a discussion with someone saying that longitudinal natural history studies in rare disease are one of our strongest tools, and yet I think there's a gap between where our electronic health records are now and where they should be if we were to be able to do these studies within electronic health records. Would you agree that that's an issue?

Dr Saul: Yes. We also need to make sure that if we have a diagnosis and the patient comes in for a checkup, we've made sure that we went down the checklist in terms of the various body systems that we were supposed to look at specifically, whether they were the eyes, ears, chest, heart, kidneys, or whatever. We need to be better about that. Specialists can remember the list in their heads. Primary care doctors can't.

Dr Summar: Is there anything you'd like to say to our young physicians out there about a career in genetics or general pediatrics? Any message you'd like to send them?

Dr Saul: People often ask me—now that I've done both pediatrics and genetics—if would I do anything differently. The answer is no. I absolutely love what I've done. As you said, genetics in some ways was just an enhancement of my pediatrics. Getting back into pediatrics now has really helped me to have a better perspective of what it was like with genetics. When I was a geneticist, it was not unusual for me to say what pediatricians should be doing and asking why they weren't doing it. Now that I'm on the other side of the fence, I realize that it's not so easy. My job now is to break down that fence.

Dr Summar: I want to thank you for all the work you're doing in medical education, particularly for this next generation of pediatricians. Hopefully, some future geneticists are coming out of that group as well.

Dr Saul: Thank you.

Dr Summar: This is Marshall Summar. I'm speaking today for Medscape at the NORD summit.


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