Brad Kittredge is an MBA/MPH student at the Haas Business School at UC, Berkeley. He is working to build an online tool to assist with complex and difficult diagnoses, which, as you’ll see, he considers among the biggest problems in medical care. He blogs more about these issues at Hyoumanity.
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 Diseases (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. 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
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, which we define as a patient
experiencing symptoms that 5 or more doctors are unable to diagnose, is
an under-recognized and under-addressed problem in our healthcare
system. Findings ways to improve the process of diagnosis and handling
of these tough cases for both patients and doctors will reduce costs,
improve health outcomes, and dramatically impact lives.