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Need for Medical Detectives Grows in Health Care Professions

Note: This article was originally written for Braintrack.com in 2012. It is no longer available on that site, so I've provided it here with updates.

Gripping medical mystery shows like “House”, “Mystery Diagnosis”, “Mystery ER”, “Medical Detectives,” and “Diagnosis X” are increasingly capturing the interest of television viewers. “House” alone has been distributed to more than 66 countries and was the most watched television program in the world in 2008, according to the Huffington Post.

It’s easy to want to emulate these doctors who are able to solve complex puzzles with often dramatic, life-saving results, but a career as a medical detective requires tremendous tenacity, unending compassion and a lot of creative career planning.

Dedicated Diagnosticians are Desperately Needed

Even with tremendous strides in medical discovery and innovation, the medical profession still has a lot to learn about what causes many illnesses and how to treat them.

The National Institutes of Health’s Undiagnosed Diseases Program External link recently published a report on its first two years tackling complex unresolved cases. The program, which emphasizes genetic testing, sorted through 1,191 applications, accepted 326 patients, and were able to successfully diagnose 39 cases (37 of which were conditions that science had previously documented). The remaining 287 undiagnosed patients remind us how difficult it can be to identify some diseases.

Note: After a four-month period focusing on existing applications, the NIH’s Undiagnosed Diseases Program External link announced on December 1, 2011 that it is again accepting new applications from doctors on behalf of their patients.

According to the Offices of Rare Disease Research at NIH, only about 500 diseases are considered common enough for most doctors to be able to diagnose, while over 6,500 have been identified but are considered rare. (This doesn’t include diseases that don’t yet have a name, or rare presentations of more common diseases.)

Proper diagnoses assure that patients suffer for the least amount of time possible, and treatments are appropriate the first time. When the process fails, chronically undiagnosed patients are frequently denied disability coverage, but may not be able to work due to their symptoms and often lose their medical coverage. Their medical bills are extensive as they go from doctor to doctor, looking for the one passionate and experienced diagnostician with enough time, resources, access to diagnostic tools and medical facilities, team support, and personal commitment to put all the pieces together.

The need for improved diagnostic quality is a key contributor in the nation’s health care crisis. In an article External link for the U.S. Department of Health & Human Services’ Agency for Healthcare Research and Quality (AHRQ), Mark L. Graber, M.D., who founded the inaugural Diagnostic Errors in Medicine External link conference put on by The Society for Medical Decision Making External link, estimated that 1 out of 10 patients is undiagnosed or misdiagnosed.

“Diagnosis is the weak link in medicine,” says Marianne Genetti, founder of In Need of Diagnosis, Inc. (INOD), a non-profit organization promoting timeliness and accuracy of medical diagnosis and providing support to those who have yet to be properly diagnosed. In an article titled “Dr. House, Where are You?”, she wrote, “There is no category for ‘diagnosis’ under the yellow page listings for physicians, because at this time there is no such specialty. There is a great, unmet need in the medical system for a specialty in the field of medical diagnosis.”

Pioneering Diagnostic Clinics

The American Medical Association (AMA) has not yet established an official career path for a “medical diagnostician” specialty, primarily because health care practitioners are already considered to be diagnosticians. However, an increasing number of medical facilities are adding diagnostic departments, where resources are allocated so that physicians can focus more on diagnosis than treatment or preventative care. For example:

  • Washington University’s School of Medicine Department of Pediatrics’s Division of Diagnostic Medicine External link works with children from infants to adolescents with complex health conditions that pose a diagnostic dilemma - particularly those that don’t fit well into a single subspecialty area.

  • The Mayo Clinic in Jacksonville, FL has a Division of Consultative and Diagnostic Medicine External link that combines diagnosticians with disease-prevention consultants. The team sees adults who come from geographic areas around the world who have complex medical problems often involving more than one system in the body.

  • The Diagnostic Clinic of Houston External link features a multidisciplinary team where all medical subspecialties are represented, and all patients are seen by doctors (instead of physician assistants or nurse practitioners).

  • Cincinnati Children’s Hospital has a Diagnostic Clinic External link that has become known for taking on tough cases. One of the health care practitioners, David Hall, MD, is quoted on the clinic’s site, “I think every doctor is a medical detective. But my job is to take the time to ferret out a medical mystery.”

  • St. Joseph’s Healthcare External link in Hamilton, Ontario, Canada has a Community Liaison Program that uses a multidisciplinary approach to help patients with complex and confounding mental health conditions requiring diagnostic clarification.

  • Yale and Brown University medical schools both have departments in diagnostic radiology or diagnostic imaging. The University of Maryland School of Medicine, which also has a department in Diagnostic Radiology & Nuclear Medicine External link, states on its website, “Radiologic studies now establish or verify the diagnosis in three out of four cases of organic disease.”

A study report released in April 2011 by the University of Chicago's Center for Health and the Social Sciences External link called for the creation of a new specialty: the comprehensive care physician or comprehensivist. Doctors in this role would work both in hospitals and attached clinics, caring for established patients for whom they regularly provide care and are familiar with their medical history when the patients are also at the greatest risk of needing hospitalization.

Creative Career Planning Required

As it stands today, the key to a medical detective career is to find an existing career in the industry that best suits the candidate’s qualifications. Building on that foundation, the career seeker can customize their professional path with supplementary education and participation in quality-related work.

Genetti felt compelled to create INOD when she herself went for many years with an undiagnosed, disabling illness. She attended nursing school to become more familiar with medical terms and to help find the answers she and so many others desperately needed.

Update: The undiagnosed community suffered the loss of a great ally when INOD founder Marianne Genetti passed away in May 2013, mere months after the publication of this article. She spent her entire life trying to find a diagnosis for her disabling condition, and never did. INOD continues to help people in need of diagnosis.

Graber, who started his medical career in nephrology, turned his passion for diagnostic accuracy into a platform for global impact. While working as Chief of Medicine at a VA hospital, he chaired the Medical Quality Assurance Committee where he developed a new model of peer review for medical errors that included root cause analysis.

I'm a big fan of consultation and second opinions,” said Graber. “There are many cultural things that get in the way... Doctors can be tremendously overconfident, and they don't get enough feedback - from patients’ visits to other doctors or even autopsies, which have become rare.”

He initiated a patient safety curriculum for the State University of New York at Stony Brook School of Medicine, and helped established National Patient Safety Awareness Week External link, which is recognized internationally. Graber also participated in a committee that created a voluntary and anonymous medical error reporting process for the VA health care system. .

Mark L. Graber, M.D.

It may be a long time before the AMA formally establishes a career path of “medical diagnostician”. “I've learned that medicine has a tremendous amount of inertia, “ Graber said. But new destinations on the path of medicine are emerging that allow those who are passionate for reducing diagnostic error to have a positive impact on society as well as express their interest in solving complex puzzles.

Graber provided some suggestions for those interested in crafting careers as medical detectives:

General practice - “There are diagnostic challenges in every medical specialty, but internists (who practice general medicine on adults) pride themselves on diagnostic acumen, as do pediatricians. They specialize in diagnosis more than any other doctor.“ Doctors who practice general medicine must be able to identify signs and symptoms of conditions in any system of the body.

Emergency medicine - “Emergency medicine is the laboratory for diagnostic thinking. The density for diagnostic problem solving is front and center in terms of the battle.”

Pathology - “Pathology (analyzing and testing tissues in a laboratory) allows for diagnostic work from that perspective.” Clinical research and laboratory staff also have a unique opportunity to put the pieces of the puzzle together.

Software development - Participating in the development of clinical decision support products like Isabel External link and medical records / informatics can allow techies to weigh in on medical detective work.

Medical consulting companies - Best Doctors External link, for example, assigns doctors to review complex cases of employees referred by employers.

Other career paths that may appeal to aspiring medical detectives include:

  • Diagnostic teams, clinics or departments

  • Consultative medicine programs

  • Forensics and pathology

  • Epidemiology / public health

  • Diagnostic radiology or diagnostic imaging departments

  • Experimental and clinical microbiology

  • Experimental immunology

  • Nursing

  • Psychiatry

  • Hospitalist (specializing in hospital case management)

  • Generalist (focusing on primary care)

  • Comprehensivist (working both in a hospital and attached clinic)

  • Developing an expertise in differential diagnosis

  • Independent disease prevention consulting

  • Alternative, integrative, complementary and functional medicine

  • Health insurance providers

  • Patient advocacy, health care and wellness coaching

  • Online medical consultation through websites like Just Answer: Medical External link

  • Not-for-profit or social enterprise leadership

  • Technology development of medical devices and equipment

Graber is currently launching a new organization called The Society to Improve Diagnosis in Medicine External link, which will further develop career opportunities in diagnostic science. It will sponsor the next annual meeting of "Diagnostic Error in Medicine", which will be held at Johns Hopkins University in Baltimore November 2012. Trainees who attend these meetings participate firsthand in discussions on the complexities of making reliable diagnoses and how to improve the process.

The Future of Diagnosis-Oriented Careers

Personalized medicine, such as the diagnostic program at the UDP, will continue to develop as a preferred medical model. Instead of generalizations based on large cohorts, personalized medicine seeks to tailor health care decisions and practices for individual patients by gleaning genetic and other information specific to the patient.

The demand for specialized diagnosticians will continue to increase exponentially as boomers age, and their children and grandchildren seek medical care as well. Candidates with expertise in strategies and technologies that improve diagnostic accuracy, and can reduce the cost of care for health insurance companies, medical facilities, and governmental agencies that support those in need of health care, will have an advantage.


Think you’ve got what it takes to be a medical detective? Try your hand at it - check out the Think Like A Doctor blog External link of the NY Times, written by the doctor that inspired the “House” television series.

Update: Crowdmed.com External link is a new, powerful site where those struggling to find diagnosis can get help from willing members of the public. A movie called Undiagnosed: Medical Refugees External link is seeking funding in order to be completed. Please support these important projects.

Are you a professional medical detective, or do you know one? Please contact Ellen Berry who will share your contact information with the undiagnosed community via the World Undiagnosed Day Initiative External link.

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