Being a Smart Patient

What can patients facing a complex or difficult diagnosis do to find an answer? There are a few key steps that every patient must take:

1. Be Proactive: The first thing you must realize is that it is your health and nobody is as interested in it as you are. You must learn to drive your own care and while the health care system can be confusing and intimidating, you must learn to navigate it. This means not being afraid to ask for what you need from a provider and working with your insurer to ensure that all consultations, diagnostics, and treatments are covered. It also means thinking of your doctors as consultants and understanding their incentives and motivations. They want to help, but you must do your part as well, including following the tips below.

2. Keep your records: You are legally entitled to a copy of all of your medical records. You can ask or fill out a request for them at your doctor’s office or the medical records department of your provider. Create a file, keep it up to date, and bring it to every appointment. Think of ways to organize it that can help a doctor quickly get a picture of your case. For example, you can make a table of the results of the same test repeated over time, a list of doctors you have seen, a list of your medications and the effect they have had on you, a description of your symptoms and their onset, and a family history of illness. If you are so inclined, you can also organize and keep all of your health information online at Google Health or Microsoft Health Vault.

3. Do your homework: You need to get smart on your case, which involves doing extensive research online. You must be well versed on your symptoms, the underlying physiology, potential diagnoses and the likelihood of each, diagnostics and what the results mean (one good resource is labtestsonline.org), and the safety and efficacy of various treatments. Use reputable informational sites such as Harvard Medical School, Mayo Clinic, and Cleveland Clinic as well as connections with other patients through such avenues as Yahoo! or Google Groups or patient social networks like iMedix or dailystrength.org. Create saved searches through mydailyapple.com so that relevant new stories are emailed to you as they emerge. Organize all of your information and keep it as part of your medical file.

4. Find the right doctor(s): Don’t just go to any doctor. Do your research to find the right doctor for your condition and situation. Ask around town, ask others on message boards who they have seen, and search online, including using sites like healthgrades.com, docboard.org, and bestdoctors.com. Be aware that while doctor rating websites do add some value, patients tend to be good at rating a doctor’s bedside manner but not his/her clinical abilities. The single best predictor of a doctor’s skill in treating a certain condition is volume. Try to find the person who has seen the most cases of what you think you may have.

5. Prepare: When you have an appointment, don’t just go into it blindly. Prepare for it as you would for a business meeting or an interview so that you can get the most out of it. Write out all of the relevant information and things you would like to accomplish for the appointment and bring this with you. One potential format includes:

• Objective for this appointment: For example, “I came to see you today because I am continuing to seek a diagnosis for the abdominal pain I have been having for the past six months. I was happy that we ruled out colon cancer and wanted to see what other potential diagnoses we should consider.”
• History of present illness (if a first visit) or new information since last visit (if a follow-up): For example, “Since I last saw you, my abdominal pain has gotten a little bit worse. It seems to get worse with meals, but is improved when I take the medication you prescribed.”
• Specific questions: For example, “From the research that I did, it looked like Celiac Disease could be a potential fit with my symptoms. We didn’t discuss this before and I did not see a Celiac test in my results. Do you think this is within the realm of reason and something we should pursue?”
• Next steps: For example, “Okay, I will have the gluten antibody blood test that you are ordering and will make an appointment to come back in two weeks to discuss these results. Is there anything else I should do or be aware of between now and then?”
  

If you act professionally and treat your doctor professionally, he/she will do the same for you. Don’t be a victim and don’t fall into the trap of self-pity – this isn’t productive in any way. People have challenges and there are resources there to help you find an answer. You just have to know how to use them and to do your part. Most importantly, don’t give up!

Cognitive Bias and Error in Diagnosis

Given the enormous amount of information that doctors must learn, retain, and process daily, it is no surprise that they are subject to a number of cognitive biases and errors (just as all people are) that are significant contributors to nondiagnosis and misdiagnosis. Having an understanding of these errors can help doctors to avoid or address them and allow patients to better manage their care.

Cognitive errors in medicine have garnered increasing attention as more and more studies have shown them to play an important role in diagnosis and treatment. Dr. Jerome Groopman, Chaired faculty member at Harvard Medical School, details many types of these errors in his book How Doctors Think, an insightful and accessible exploration for patients and doctors alike. Dr. Gurpreet Dhaliwal, Assistant Clinical Professor of Medicine at UCSF has also contributed important elements to our understanding of cognitive biases and errors. A few of these that particularly hinder effective diagnosis include:

Anchoring: The tendency to disproportionately weight (anchor in on) a subset of information to make a decision. Once a patient receives a preliminary diagnosis, it can often be hard for doctors to think of other potential diagnoses as they anchor on this hypothesis.

Confirmation bias: The tendency to seek out or interpret data in a way that confirms a hypothesis. If a doctor has a diagnosis in mind, he may be more likely to test for and recognize signs and symptoms that support this diagnosis and dismiss those that contradict it.

Premature closure: The tendency to consider a case to be solved once a satisfactory solution has been achieved without sufficiently considering alternative solutions. A doctor may stop considering other diagnoses once a diagnosis has been reached.

Inter and intra observer error: Variation in the interpretation of evidence across multiple views by an individual (intra) or between different individuals (inter). For example, the same radiologist looking at the same image may see different things on different occasions, while different radiologists looking at the same image will see different things.

How pervasive are these problems? Groopman’s research found that 80% of medical errors were cognitive. In a Harvard study, Leape et al report that “The proportion of adverse events due to negligence was highest for diagnostic mishaps (75 percent).” In a study at Veterans Affairs, Graber et al found that “System-related factors contributed to the diagnostic error in 65% of the cases and cognitive factors in 74%.” Raab et al, in a study supported by AHRQ, found that cancer diagnosis errors “ranged from approximately 2 to 10 percent of gynecologic cases and from approximately 5 to 12 percent of nongynecologic cases at various hospitals.” These findings highlight the pervasive nature of these challenges and the importance of doctors and patients facing complex and difficult diagnoses to work to mitigate them.

The Process of Diagnosis

Understanding why so many people face persistent nondiagnosis or misdiagnosis and working to address this problem requires examination of the process of diagnosis itself. By improving our insight into the end goal of diagnosis and how we often get there, we can better understand the strengths and weaknesses of this process and work to improve its effectiveness for doctors and patients alike.

In my opinion, DIAGNOSIS IS THE MOST IMPORTANT ELEMENT OF HEALTH CARE. Why? Every subsequent care decision for a patient depends on a timely and accurate diagnosis. The goal of diagnosis is to identify a condition so that it can be appropriately treated, making it the limiting factor affecting many health outcomes. Delayed diagnosis results in more advanced disease before treatment begins and therefore worse health outcomes. Inaccurate diagnoses result in patients being treated with interventions that are ineffective and potentially harmful. There are estimated to be 100,000 deaths per year in the US due to medical error, with many of these due to inappropriate treatments. Only when an accurate diagnosis is secured can appropriate and targeted treatment be effectively used.

Despite its importance, diagnosis may be one of the least understood elements of health care. Even defining diagnosis becomes difficult. At its simplest, it can be thought of as the identification of disease within an individual. It is a description and explanation of a condition as well as a guide for treatment. But, knowledge about conditions varies, as do diagnostic tools and methods. Some diagnoses are categorical and definitive, such as whether a patient has HIV or not, while others (such as Lupus) rely on a physician’s clinical judgment and cannot be proved with certainty. But, how sure is sufficient? It is a diagnosis if it is 75% likely? 51%? This highlights the fact that diagnosis is often as much art as science.

There are three main ways that doctors approach the process of diagnosis: Bayesian diagnosis and branching logic. Bayesian diagnosis is a probabilistic model that correlates symptoms with conditions to identify a diagnosis. This relative probability evolves as additional information is collected, such as history, physical examination, and test results. Branching logic is a categorical model that involves constructing a series of logical decisions intended to rule out all other possibilities. This can be envisioned as a decision tree of hypothesis generation and testing that moves from general to specific. Most doctors do not overtly follow one or both of these processes in their heads, but subconsciously use elements of each in narrowing down the potential cause of a condition to secure a diagnosis.

While both of these models offer valuable frameworks to conceive of how doctors make diagnostic decisions, they fail to capture an essential component of diagnosis: intuition and expertise. Diagnostic insight is the cumulative effect of years of experience and often, good diagnosticians will just have a hunch about a patient. Combining a logical and scientific approach with intuition and insight can result in important diagnostic breakthroughs.

Given the volume of information that doctors must process, they are also forced to develop mental algorithms and heuristics (rules of thumb) to simplify many situations. The best known of these, Occam’s Razor, essentially states that the simplest answer is the most likely answer. This is also expressed through the common medical sayings, “When you hear hoofbeats, think horses, not zebras” and “An abnormal manifestation of a common condition is more likely than a normal manifestation of an uncommon condition.” While in the majority of cases these frameworks serve diagnosticians well, they can represent intellectual traps that inhibit the recognition of unique cases and outliers.

There is much that patients and doctors can do to improve the process of diagnosis and therefore the outcomes of this process. The first and most important is to recognize that diagnosis is extremely difficult and often imprecise. This highlights the need for patients to seek out appropriate caregivers and be proactive partners in the health care process rather than passive recipients of care. To do so, patients must do a better job collecting, managing, and presenting information relevant to their case. They must also follow through with diagnostics and treatments prescribed by their doctor. Doctors should remind themselves to question diagnostic assumptions, be proactive about seeking out alternative viewpoints or exhaustive second opinions, and make use of clinical decision support tools when appropriate. Earlier and more accurate diagnosis will lead to improved health outcomes, significant cost avoidance, and a reduction in pain and suffering. To achieve this goal, we must improve our understanding of the diagnostic process and develop tools to enhance its effectiveness.

Persistent Nondiagnosis

Every day, thousands of Americans are desperately seeking answers to complex medical conditions that doctors are unable to diagnose. Consider one example: Jenny T. is a 14 year old girl with a progressively debilitating neuro-degenerative condition that has taken her from healthy and active to nearly paralyzed in less than one year. Her parents have taken her to some of the best academic medical centers in the US, including Stanford, UCSF, and the University of Pennsylvania, but doctors have been unable to diagnose her condition, leaving Jenny and her parents desperate for answers and short on options.

Unfortunately, Jenny’s case is far from unique and persistent nondiagnosis is a much more pervasive problem than many believe. The US National Institutes of Health (NIH) estimate that 7,000 rare diseases (defined as a disease that affects less than 200,000 Americans) cumulatively affect as many as 30 million Americans. A study by the National Organization for Rare Disorders (NORD) found that of these patients, 36% took more than one year following their first doctor visit to receive a diagnosis while 17% took more than six years to get diagnosed. Mary Dunkle, VP of Communications for NORD, said that “diagnosis is the biggest problem our patients face and accounts for the majority of the inquiries we receive.” At the same time, it is not only individuals with rare diseases who face complex and prolonged diagnostic challenges. A number of more common conditions, such as cancer, Type 2 Diabetes, Multiple Sclerosis, Primary Immunodeficiency Disorders, Hepatitis, Lupus, Celiac Disease, Polycystic Ovary Syndrome, and more frequently go undiagnosed or misdiagnosed for a prolonged period of time. Taken together, I estimate that 500,000 Americans per year experience persistent nondiagnosis or misdiagnosis. Because diagnosis is the basis for all subsequent healthcare decisions, the absence of a timely and accurate diagnosis is the limiting factor that prevents patients from pursuing effective treatment.

There are several factors that contribute to this pervasive problem. First, disease and diagnosis are inherently complex as there are over one million permutations of diseases, syndromes, and disorders that afflict humans, each containing a distinct symptom profile and physiology (ICD-10). Many of these conditions frequently present in a misleading and ambiguous manner, requiring significant specialization and experience to effectively diagnose. Second, doctors are subject to a number of significant psychological and perceptive challenges such as anchoring and confirmation bias, leading to frequent diagnostic mistakes. Third, structural challenges inhibit effective management and resolution of difficult cases. Doctors average only 12 minutes per consultation and are not paid for additional research time, providing no incentive to take on a difficult case and work to help a patient find a solution. This is not a criticism of doctors, but of the difficult structures and incentives under which they are frequently forced to operate. These challenges also manifest through the process of patient referral. When faced with a case they are unable to solve, doctors refer these patients to other specialists, but these referrals are often determined by professional or personal relationships rather than a careful consideration of matching a patient with the best provider. The direct result of these challenges is that, despite the United States having the most technically advanced health care system in the world, a large number of patients remain undiagnosed for an extended period of time.

The implications of this are substantial in both economic and human terms. Unable to find answers, patients continue to see doctor after doctor in hopes that one of them will have a breakthrough insight into their case. This leads to significant out-of-pocket expense for the patient as well as substantial costs to the patient’s health insurer. Delayed diagnosis also results in delayed treatment and more advanced disease, leading to worse health outcomes and higher long-term costs. Additional costs include lost productivity for the patient and their family caregivers and draws on public programs such as Social Security disability benefits. Lastly, patients facing a prolonged period of nondiagnosis or misdiagnosis suffer severe physical, psychological, and emotional pain and suffering.

I believe that persistent nondiagnosis, in which sick patients are unable to find answers for an extended period of time despite access to medical care, is under-recognized and under-addressed in our healthcare system. Findings ways to improve the process of diagnosis and handling of these tough cases will reduce costs and dramatically improve lives. This blog is committed to the exploration and discussion of these challenges and opportunities, with the intention of positively impacting the health care system and the lives of patients.