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Alexis Madrigal: Welcome to Forum. I’m Alexis Madrigal. This morning, we’re talking about the role of a particular slice of the practice of medicine: the diagnosis. A 2015 report from the National Academies of Sciences, Engineering, and Medicine found that most people will experience at least one diagnostic error in their lifetime, sometimes with devastating consequences. Journalist Alexandra Sifferlin’s new book, The Elusive Body, looks at why, despite enormous strides in medicine, the medical system often fails patients in this fundamental task. Sifferlin joins us this morning. Welcome.
Alexandra Sifferlin: Thank you for having me.
Alexis Madrigal: We’re also joined by UCSF’s Gurpreet Dhaliwal, who is one of the most highly regarded diagnosticians in the country and one of the subjects of Alexandra’s book. Welcome.
Gurpreet Dhaliwal: Thank you.
Alexis Madrigal: Alexandra, your new book, and also the recent essays you’ve had come out about it, are really about the importance of diagnosis. I guess I always just assumed that diagnosis was just part of what being a doctor was all about, but it really is this very specific skill.
Alexandra Sifferlin: Yes, absolutely. I think it’s this very essential medical act, and I do think for patients, for many of the people that I spoke to, it’s the most important piece of medical information that they can receive. But, of course, there are other aspects of medical practice, including what you do after diagnosis.
Alexis Madrigal: Yeah. I mean, it’s interesting. Just from my own personal experience, 25 years ago, my mother got an incorrect diagnosis of what turned out to be quite serious cancer, which delayed her getting treatment. But I imagine most diagnostic errors are not that serious. Or how would you kind of break down the distribution of these errors?
Alexandra Sifferlin: Well, I think some are quite serious, but when these are being calculated, they’re often broken down into three different categories. So you have an incorrect diagnosis, you have a delayed diagnosis, so it just takes a long time, and then you also have a misdiagnosis—people are just living without an answer to what their health complications are. But I think it really can be a very major issue. Researchers at Johns Hopkins fairly recently estimated that somewhere around 800,000 people in a year could experience, or have experienced, death or potential disability from a diagnostic error.
Alexis Madrigal: Wow. I mean, obviously, there are harder and easier cases here. My kids got the flu a couple weeks ago. We knew because they took a flu test, and it was pretty open and shut: influenza B, got it. On the other end of the spectrum, there are these cases that are wildly difficult, and maybe you’re one of only a few people in the world who might have this thing. You introduce us in the book to one such case, a person named Louise Proctor. Can you tell us a little bit about her medical issue and how long it took for it to be properly diagnosed?
Alexandra Sifferlin: Absolutely. So Louise is the eldest of five siblings, and they grew up in rural Kentucky. Basically, as each of them entered their mid-20s, they started to experience these very mysterious and painful symptoms whereby, after walking for maybe five to ten minutes, all of a sudden it would feel as if they were freezing in place, as if their legs were turning to stone, as they would describe it to me.
Alexis Madrigal: Not a cramp, though. Something else.
Alexandra Sifferlin: Not a cramp. It really felt, one, extremely painful, but two, like, I cannot move my leg one step more. I really feel frozen where I’m standing. It took 30 years from when Louise, the eldest, started experiencing symptoms to actually receive a diagnosis. She had gone to multiple physicians, had many incorrect diagnoses during that period of time, and it really took her and her family finding this program that I profile in the book called the Undiagnosed Diseases Network, run out of the National Institutes of Health, to actually crack the case.
Alexis Madrigal: Wow. And did they crack the case via a new kind of test? How did they do it?
Alexandra Sifferlin: So they brought the entire family in. In this case, they all went to Bethesda, to the NIH, and they did a series of genetic screenings in addition to physical exams. They took a punch biopsy, which is where you take a little bit of skin from the arm, and they were really studying the cells in a dish—sort of this really laboratory science. Ultimately, they figured out that they had an incredibly rare genetic disorder. It’s called arterial calcification due to deficiency of CD73. They call it ACDC for short. But basically, this was a completely new, novel disease discovery.
Alexis Madrigal: Wow. I mean, what did it do for them to get a diagnosis, given that it’s not like someone is making a drug specifically for them, right?
Alexandra Sifferlin: No, and this is what was really interesting. So yes, ACDC does not have a cure. However, there are some promising medications under study. I was very interested in this question: do you feel like you’ve benefited from a diagnosis even if you are going to continue to live with these symptoms? And the family, Louise especially, told me that yes, because it sort of ended this really long journey that she had been on where she had no idea what was happening to her. She had no idea what would happen to her. She didn’t know if this was something her own children were going to experience over time. Thankfully, this particular disorder is not something that could be passed down.
But she talked to me a lot about how living for decades undiagnosed was so agonizing that having a diagnosis was just this answer and relief. In addition to that, she also felt that the scientists and doctors who diagnosed her, having them feel like they are on her team, and now that they know what it is, they can at least try different experimental therapies, create a plan—they just feel less alone in that process.
Alexis Madrigal: So in The Atlantic, and also in the book, you introduce readers to Gurpreet, who many of his peers consider to be one of the top diagnosticians in the country. Gurpreet, in your view, what makes a doctor good at this?
Gurpreet Dhaliwal: Yeah, I appreciate what Ms. Sifferlin said about this being a subskill. Diagnosis is one skill that we have to do as doctors. Doctors commit themselves to different parts of the practice. But part of paying attention or getting good at diagnosis is actually studying your own performance and creating your own learning programs. All doctors are diagnosing all the time, but you can choose to be a doctor who says, “I want to examine my performance. I want to learn from my errors. I want to seek more challenging cases. I want to talk to other people about this aspect of doctoring.” That is something that I have found rewarding for myself and, ultimately, for my patients.
Alexis Madrigal: What percentage of doctors do you think end up focusing on this as opposed to some other part of the field?
Gurpreet Dhaliwal: Of course, all doctors are diagnosing, so 100 percent of us are doing it. But in terms of focusing on it, it’s hard to say because I think everyone has some personal commitment to getting better at it. But the number of people who can devote extra time and energy and orient their practice around it, I would just say is a minority, as I would say about every other doctoring skill. A subset of doctors are really working hard on their communication skills. A subset are working really hard on getting better at their procedural skills. So I think it’s a choice to be made, but I don’t know the numbers.
Alexis Madrigal: It’s interesting. I’m not a doctor, but I imagine if I had gone to school for 12 or 15 years for something, and then I had spent 20 years practicing, having someone come along and say, “Hey, maybe you could get better at doing this core function of your job,” I might feel some kind of way about that. Do you encounter that with doctors?
Gurpreet Dhaliwal: Yeah, I understand that completely. In fact, I think in the book, Ms. Sifferlin really makes a point about how, for doctors, this is almost the core essence of their identity. Perhaps it means more to us than anything else: the ability to tell a patient, “This is what’s going on with you.” A patient gives us a story, we try to use all our professional knowledge, and turn the story back over to them, just the way she described it finally happened for the Proctor family.
And to hear that you could improve in that area, I think it could rub some people the wrong way. The goal would be to have a stance where you would want to get that kind of feedback and get better at it. But we’re all human.
Alexis Madrigal: Yeah. How does your mind work when you’re seeing a patient for the first time and you know that they have a mysterious or difficult-to-diagnose condition? What are the steps that you’d want to walk your mind through?
Gurpreet Dhaliwal: Yeah. I think out of the gates, when we meet a patient, even if we may have a sense that it’s mysterious, the first premise is that common things are common. So it’s rare that we’ll ever jump to a rare condition. It’s far more likely we’re dealing with an unusual variation of something common—diseases like gout and pneumonia and gallbladder disease and infections of the colon—that are just presenting in a tricky or atypical way, maybe a way I haven’t seen, or because something about your body and your immune system or your age makes it present differently.
So we spend a lot of time just trying to make sure it’s not the common thing presenting in a cloaked way. Once that proves not to be the case, then we start to expand and pull in all our resources. That’s our memory, that’s the medical literature, that’s specialists, sometimes the patient’s own research, certainly searching on the internet. All of those things get drawn in. I would say that’s the minority of cases, but that’s the playbook we use.
Alexis Madrigal: Do you think there are particular categories of ailments that are especially hard to diagnose?
Gurpreet Dhaliwal: I don’t know. I think every organ system and every type of ailment has edge cases that are really tricky. I think virtually every category has evaded me. I’m a general internist, so I work in the emergency room, I work in the hospital, I work in the clinic, and I don’t think any category is off limits.
Some diseases, for instance, have fuzzier diagnostic criteria. A good example might be mental health disorders. Sometimes we are trying to decide: is this disorder someone has psychiatric? Is it neurologic? Is it some other organ system that’s manifesting in the brain? So there are certain areas of the body where the criteria are not so clear, or the presentations are so varied, and the number of things we can select from is so big, that it makes it hard.
Alexis Madrigal: We’re going to return to that after the break. We’re talking about medical diagnoses—the right ones, the wrong ones, and how the medical field is working to improve them. We’re joined by Gurpreet Dhaliwal, who is professor of medicine at UCSF, and we also have Alexandra Sifferlin, who’s a health and science editor at the New York Times and also author of the new book, The Elusive Body: Patients, Doctors, and the Diagnosis Crisis.
We, of course, would love to hear from you. Perhaps you’ve suffered from an illness that took a long time to diagnose but eventually was diagnosed. We’d love to know: what did that feel like? What did it do for you? Maybe you have a hard-to-diagnose ailment. What’s that experience been like? Maybe you’re a medical professional—you were trained, but you’d like to get better.
Give us a call: 866-733-6786. That’s 866-733-6786. The email is forum@kqed.org.
I’m Alexis Madrigal. Stay tuned.
