June 2013, Vol 2, No 4

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Trouble at the Beginning: Diagnostic Acumen and the Relentless Search for Red Flags

Robert E. Henry

The Last Word

Four decades ago I was told that pain is the universal magnet drawing people to a doctor’s care. At the time, it was medical wisdom itself – for who would seek aid unless pain suggested a health issue? Today’s personalized medicine, technologically driven to include preventive care, has updated this maxim, whose fundamental point was to address patient reluctance to seek medical care even in the presence of pain, not solely because of it. This makes medical diffidence health’s greatest enemy. The maxim fundamentally demanded a proactive fervor toward fighting disease, using all available means to succeed. If a gap still exists in this model, it is in diagnosis, based on knowing the cause of a patient’s disease. Our healthcare system will remain poles apart from a wellness-based, personalized medicine model until physicians determine to make diagnostic excellence a hallmark of their care, treating patients with a solid understanding of the disease pathophysiology.

Proactive medical care, understanding what is truly at the core of any malady, is the mantra of personalized medicine in cancer. Showcasing this with all the dazzle of celebrity attention was actress Angelina Jolie’s highly publicized double mastectomy, proactively administered before pain or tumor could signal that the BRCA1 gene mutation she carries had made her a breast cancer victim. This is patient screening and diagnostic wellness-based healthcare at its finest, demonstrating responsibility of patient and physician alike to know the nature of that which is afflicting the person…in this case, even before she became a patient.

This has placed diagnosis on the pedestal of medicine for all to admire and emulate. But experience shows a widespread climate of physician indifference to root causes of patient maladies. The practical consequences clearly undermine care that is evidence based, value based, and patient centered…what could be better?

Fighting this process is population-based medicine, which in comparison is the mediocrity of going through the motions, following an algorithm even when experience has demonstrated the futility of the ensuing treatment strategy. If the treatment is not succeeding, if the condition persists, it follows that the diagnosis is likely wrong and the determination to prevail over sickness has died with it. This kind of clinical failure is the product of a healthcare system that is transaction based, its clinicians acceding to population-based diagnostic algorithms incapable of giving the “last word” on what’s ailing the patient. Return for a moment to Hollywood, which not only finds fame in celebrities like Angelina Jolie but also gave us what a brilliant medical authority refers to as an enjoyable “medical fantasy,” the television series House. The series features patients presenting with obscure and misleading symptoms that do not respond to population-based algorithmic averages. Where the series diverges from mainstream practice is in the heroic efforts Dr House and his team make at collaborative thinking to come up with the real diagnosis…and where that is accurate, the cure is not far behind. Their MO: looking for any red flags that the body has cleverly hidden in a sea of red herrings. Determined not to yield to the law of averages, they continue to listen for not just zebras, but antelopes or anything that gallops, rather than just horses when they hear hoof beats. Resourcefulness, born of a practical humility before the blazing mysteries of the human body, drives their search for what’s causing the illness. Often outrageous, House is never smug, just determined to fight for any chance that he can find.

Knowing the diagnosis is to know the disease pathophysiology, and with it, the patient, in a true personalized medicine rescue from a condition cleverly posing as something else. In cancer, a major offender of poor diagnosis is breast cancer, examined immediately below. In chronic noncancer pain (CNCP), patient screening and diagnosis became so disastrously inadequate as to motivate a major initiative from the Institute of Medicine (IOM), a 340-page treatise on the problem of this form of pain – a useful analogue in understanding the significance of diagnostics to personalized medicine in cancer care – and throughout the healthcare system.

I first address cancer from a legal liability standpoint, instructive in establishing how a jury holds physicians liable for a thorough, timely, and accurate diagnosis and referral process, as demonstrated in a panel recently convened by a major legal group, The Doctors Company. The panel’s findings revealed that breast cancer accounts for the majority of cancer-related lawsuits, and it identifies numerous tactical aspects of responsible physician care at the diagnostic phase of management. It showed that diagnosis is weak for several reasons.

Patients find a lump before physicians do; breast lesions cannot be adequately evaluated by palpation or mammography alone; physicians often fail to seek biopsies based on the findings of a mammogram; the mammogram is a clumsy diagnostic tool, often generating false-negative readings; physicians often attempt to evaluate their own radiologic tests rather than submitting them to other qualified experts, allowing lesions to go undetected; comorbidities can obscure an underlying condition, making thoroughness the reigning principle of diagnostic activities; physicians are found negligent if they fail to provide their pathologist a thorough background/context for the biopsy; if a sharp discord exists between the histologic results of the biopsy and the clinical impression, the physician must show why, perhaps requesting an additional biopsy, until the biopsy and clinical impression make sense; courts find physicians responsible for the timeliness of the diagnosis, avoiding any delays in establishing a diagnosis that would prevent a virulent cancer from spreading; physicians are held liable if they fail to conduct a costly CAT scan for a patient with headaches, when the scan could prevent a diagnosis of a deadly tumor or aneurysm; referrals must be handled with complete follow-through, even if patients dislike a specialist to whom they are referred; similarly, physicians are responsible for keeping track of their patients and following through with the results of tests and referrals; patient reluctance to take prescribed tests because of cost must not be accepted, or the physician will be held liable; accuracy of the diagnosis is as important as its timeliness, with the physician liable for getting the diagnosis right; and curiously, juries often hold the physician responsible for negligence if a patient does not show up for scheduled tests or follow-up and the physician fails to make an effort. The composite picture shows how central diagnosis is in the court of law. The public demands proactive physician behavior to ensure an accurate and treatment-relevant diagnosis – they do not put the responsibility for this commitment to vigilance on the patient, but on the physician.

CNCP is an analogue from outside the walls of oncology, underscoring the need to prioritize diagnostic excellence in the expanse of personalized medicine elsewhere. This enigmatic disease state is only lately beginning to receive some of the respect accorded patients with cancer-related pain, thanks largely to the efforts of the IOM to change the cultural outlook that stigmatizes patients for a condition that requires opioid treatment. This textbook case of clashing stakeholder agendas provides a gap analysis of diagnosis and real-world care. If the public and the courts take cancer diagnosis and treatment seriously, improvements in CNCP and all of medicine cannot be far behind. An example of meager diagnostic efforts for CNCP involves knowing whether it involves misaligned vertebrae – an assumption clinicians often make – or any of the spondylitis conditions: ankylosing spondylitis, axial spondylitis, or undifferentiated spondylitis. Referring such a patient to a chiropractor to align the vertebrae would be disastrous, since ankylosing spondylitis may involve vertebral fusion and manipulation would break a fused spine! There is growing interest in this offshoot of rheumatoid arthritis, but one wonders how many physicians know that April is Spondylitis Awareness Month. But they will, as they increasingly attach significance to diagnosing CNCP. The point of this demonstration is to show the consequences of weak physician knowledge of root causes at the diagnostic phase of medicine. As in cancer, CNCP can stem from a myriad of causes; ankylosing spondylitis can mimic other disease states. Yet there is far more intense interest in pain management from the Drug Enforcement Administration, which views CNCP as a gateway for opioids, than from physicians. This interferes with diagnostic interest in the complex problem of pain pathogenesis, and medicine’s priorities must not be intimidated by crime enforcement activities.

Diagnostics are a major component of personalized medicine in oncology – as it is in all healthcare conditions. Personalized medicine comes to life at the diagnostic juncture. The IOM report on CNCP reminds us of a dangerous condition of deflecting physician interest in diagnostics. They must embrace diagnostics to find the red flags that prevent appropriate, personalized care.

Pretechnology medicine relied on pain that drove patients to their physicians for diagnosis. Now a celebrity has gone public with a vindication of personalized medicine and the diagnosis that prevented the cancer in question from forming. This is a triumph over indifference that must continue to gather momentum until it typifies physician and patient prioritizing of diagnostic practices.

Robert E. Henry

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