Rare Neurological Diseases: Spinal Muscular Atrophy and Huntington's Disease - Episode 3

Economic Burden and Education on Huntington

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Peter L. Salgo, MD: Let’s talk about money. At the end of the day, certainly in the 21st century, it always seems to come down to that. You’re the keeper of the keys on this 1 to some degree. What is the economic burden of Huntington disease?

Maria Lopes, MD, MS: It can be quite significant.

Peter L. Salgo, MD: How so?

Maria Lopes, MD, MS: Some patients with deteriorating function are respiratory compromised. They can’t feed themselves. They can’t care for themselves. There are obviously big psychiatric issues. Many times, these patients actually commit suicide. Depression is certainly part of the underlying issue. Falls and malnutrition can also be a common area of concern. But as the condition deteriorates, these patients need a lot of care, and many of them end up in long-term facilities.

Peter L. Salgo, MD: That’s a lot of money.

Maria Lopes, MD, MS: Absolutely.

Peter L. Salgo, MD: We, as a society, can’t just abandon them.

Maria Lopes, MD, MS: These become pretty significant issues for the caregivers, absolutely.

Peter L. Salgo, MD: They do. What about educating caregivers and practitioners? Does every physician across the board understand Huntington disease? Would a family practitioner recognize Huntington?

John Brandsema, MD: I think it’s a challenge because with an incidence of about 1 in 10,000 this is a relatively rare condition. If you’re a more general practitioner, you may run across somebody at least once in your career with this disease presentation. It’s probably not the first thing on your mind when some of the more diffused symptoms start. If somebody is presenting with depression or some mild cognitive changes, your first thought is going to be the much more common thing of depression in a society where it is very prevalent, and you may not be thinking about a progressive neurological condition until more years go on and more systems develop. The challenge is, how do you recognize these patients when they come through your general practice? As a neurologist, if you’re getting a referral for somebody who’s having involuntary movements, then you’re going to be much more focused in your differential and be more likely to get to this point quicker. But it depends on how the symptoms initially start.

Peter L. Salgo, MD: Let’s talk about a work-up. Suppose somebody is worried, and suppose somebody’s index of suspicion is up. Do you conduct genetic testing, and do you reserve your genetic testing for symptomatic patients? Or do you test any patient with a family history?

John Brandsema, MD: I think the answer to that question already was nuanced ethically in just the natural history of the disease, but now it’s becoming even more complicated because we’re starting to potentially have therapies that impact the trajectory of the disease. In the context of neurodegenerative disease work, the theme is universal that early intervention is better and you want to get people on therapy as soon as possible, or even presymptomatically in the majority of disorders. In that environment, it’s even more critical to know whether you’re somebody who could potentially benefit from an intervention as soon as possible.

Peter L. Salgo, MD: But what I heard, which I hadn’t heard in my medical career until now, is potential therapy. In the past it’s almost a distinction without a difference. I can’t intervene, and I’m not going to do anything anyway, so what’s the difference? But you said there’s potential treatment. Really?

John Brandsema, MD: Well, I think people are in trials right now, so we still have some work to do to understand them. We’ll get there, but I think once you start having those options that actually come into the clinic, this conversation changes even more toward wanting to be informed if possible.

Peter L. Salgo, MD: We’re talking about money again. Genetic testing is expensive, I suspect. But what is more expensive still would be the therapy that would be implied by a positive test. Is the financial community considering this, or the reimbursement committee? What planning are you doing?

Maria Lopes, MD, MS: First of all, it’s exciting to think that in Huntington disease, we can have more therapies beyond symptomatic management. I certainly look forward to what that looks like. But when there’s utility—meaning, when you can understand that the impact of the diagnosis is that links to a therapy, …and you can actually change the course of the disease, especially if it’s disease modifying—then I think the impetus is going to be to identify patients early on, because that’s where the potential benefit comes in with a disease-modification therapy.

Peter L. Salgo, MD: Can I play devil’s advocate? Supposing for a moment I’m a reimbursement specialist without a conscience. It’s a leap, but let’s try it. I’m going to say, there aren’t a lot of people with this disease, and even if I prolong their life, it’s just going to increase the cost. Why do I have to cover this?

Maria Lopes, MD, MS: We cover things that are evidence based. That’s what the purpose of insurance is for.

Peter L. Salgo, MD: I’m telling you, the evidence is that we can do something. But I’m telling you, the evidence is also that it’s rare. So you’re going to spend billions of dollars to help a few patients, whereas that money might be better spent on people with heart disease.

Maria Lopes, MD, MS: Patients are presented to a specialist and diagnosed with a condition for which there is a treatment. We usually do things like prior authorization, but we do allow treatments that are appropriate based on the diagnosis.