Wednesday, December 17, 2008

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.

1 comment:

  1. I could not be a more passionate advocate of your vision. I have seen firsthand close friends painfully struggle to make sense of a complex array of symptoms without progress. I agree that these issues are not an indictment of medical practitioners or their commitment to their patients... but an externality of a healthcare system unable to embrace modern technology and align incentives. Please let me know how i personally can support this cause. Thank you!


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