Pathology is the cornerstone of modern medicine. The science, which seeks to understand disease and disease processes, has replaced the myth and superstition of traditional medicine with a rational basis for care of the unwell. Judging by the popularity of television dramas like CSI and Silent Witness, in which pathologists solve baffling murder cases, the speciality should be flourishing. Yet in Britain today not only are most of us unaware of its importance, many people have become actively hostile towards the profession.
The popular misconception of the pathologist as "doctor of death" endures—a white-coated scientist bending over a cadaver, pronouncing "He died between 2am and 3am from poisoning," or peering down a microscope, surrounded by jars of pickled organs in a lab. But pathologists deal with live patients too. It is their job to identify what a patient is suffering from and what treatment he or she is most likely to respond to. For example, when a surgeon removes a tumour, a pathologist looks at it—often while the patient is still under the knife—to diagnose the type of cancer. It's a pathologist, too, who examines spit, blood or urine samples to identify the bacterium or virus responsible for an outbreak of illness. Seven out of ten people who consult the NHS depend on pathologists for an accurate diagnosis. And postmortems are essential for determining the root cause of death. Yet the profession is struggling to operate in an ever more restrictive and hostile environment.
In the 1960s, the professor of pathology was one of the most important people in any hospital and the discipline was a major subject in medical students' training. "It was considered important for doctors to know the structure of tissues and organs, how they worked and what happened when they went wrong, much like a mechanic has to learn about how bits of the car are put together before they can diagnose faults," says Paola Domizio, professor of pathology education at the London Hospital. But in the 1970s, the philosophy began to shift towards an emphasis on the "touchy feely" aspects of healthcare. By the mid-1990s, pathology had all but disappeared from the curriculum in many medical schools. In 2005, a quarter of consultant posts in paediatric pathology were unfilled and many posts are filled by people trained overseas.
The Alder Hey scandal
In 1988, Dutchman Dick van Velzen was appointed head of fetal and infant pathology at the Alder Hey Children's Hospital in Liverpool. Upon arrival, he instructed that every organ from every fetus or child autopsied in his department was to be removed and retained—a common practice in much of Europe and the Americas, but not in Britain. By 1995, van Velzen had accumulated over 2,000 body parts from more than 850 babies. In many cases he took months, or even years, after a child had died to report any findings from the postmortems.
Van Velzen was supposed to be doing research into sudden infant death syndrome, a grant for which helped support his post. But most of the research papers he wrote were invalid because they were based on autopsies he had never completed. His bizarre practices—which included stashing the pots of organs and tissues without adequate documentation or maintenance in the basement of his lab—only came to light by chance. Helen Rickard was looking into the death of her 11-month old daughter after cardiac surgery at Bristol Royal Infirmary when she discovered that her baby's heart had been removed and kept. A public inquiry followed, in which attention was drawn to van Velzen's practices at Alder Hey. When the families in Liverpool realised that the small bodies returned to them for burial had been incomplete, they were devastated. The Alder Hey scandal became infamous. Encouraged by obsessive media coverage and by health secretary Alan Milburn, who described the revelations as "grotesque," the public turned against the profession.
Paediatric pathologists, in particular, suffered. "I remember that year as one of the worst of my life," says Irene Scheimberg, a paediatric pathologist at the London Hospital. "You devote your life to learning a very difficult thing that you think is going to help other people, and then you see yourself portrayed as this person whose pleasure is to cut up babies and take organs." Some paediatric pathologists received death threats; many left the profession for good.
Van Velzen may have been unrepresentative, but there was no doubt pathology needed reforming. Since medical knowledge has become more widely available, health professionals of all kinds have been nudged off their pedestals. The Human Tissue Act that governed postmortem practice at the time of Alder Hey dated from 1961, and there were many grey areas. It was not clear, for example, whether a relative's "lack of objection" to postmortem, as the Act required, could be construed as "consent" for the removal and retention of tissues and organs and, if so, for what purposes.
But many believe that the 2004 Human Tissue Act, which replaced the 1961 Act, was a disproportionate response to Alder Hey. The procedure for obtaining the "informed consent" that the new Act requires is too cumbersome. It also gives people the right to withdraw consent at any time and "consent for training and research purposes" must be obtained for all tissue removed during surgery. There must be a detailed paper trail following every single slide, block and organ in the system. Those who fail to comply can be fined or jailed. Furthermore, premises that store human tissues now require licences that hospital management may be reluctant to pay for, as well as costly new IT systems to keep track of everything.
The 2004 Act also replaced the 1989 Human Organ Transplants Act, imposing strict rules of consent in this area too. This has increased the gap between the demand and supply of organs and has led to a heated debate about whether the law should be amended to introduce the principle of "presumed consent" for transplant materials. This would allow a person's organs and tissues to be taken after death to save another's life unless he or she had expressly opted out, or relatives refuse consent. (About 1,000 people die every year in Britain while waiting for a transplant.) While doctors' organisations and the government support a change in the law, many patients' groups are implacably opposed. Since the independent taskforce set up to assess the arguments also rejected the opt-out system in late 2008, the plan to tweak the law for transplants seems to have failed.
Things are similarly inhibited in other areas. Every advance in medicine is based on research, yet pathologists complain that the proliferation of red tape and the deliberations of ethics committees have made it much too hard. As Phil Quirke, professor of pathology at Leeds University, says, "Quite often you receive material from a surgical case; you make the diagnosis; it looks interesting, but you don't take it further because you can't without going back to the patient for consent, and that's extra time and effort."
The Alder Hey fallout compounded other pressures already facing the profession. Mortuaries need to be rebuilt every 20 years or so at a cost of up to £2m, and an individual autopsy can run to more than £1,000. Cash-strapped hospitals think their money is better spent on living patients. Many doctors also feel that other diagnostic tools such as radiology, MRI and CT scans are now so good that they don't need an autopsy to confirm the cause of death—yet death certificates have to be revised in at least 10 per cent of cases where a postmortem is later performed.
Why we need post-mortems
Do the threats to pathology really matter? Isn't the classical surgical pathologist, investigating bits of human tissue under a microscope, an anachronism in the era of high-tech medical imaging and genomics?
"There is always someone predicting that tomorrow they will describe a DNA test that will put us out of business. It hasn't happened yet," says Juan Rosai, director of pathology at the Centro Diagnostico Italiano in Milan, and author of a history of surgical pathology. The new genetic tools do improve doctors' capacity to categorise diseases and are very important in some fields, such as blood disorders, says Rosai. But morphology—the microscopic study of the form and structure of an organism—remains the gold standard.
Pathologists discover and cure deadly diseases. In the US, for instance, pathologists have discovered that three very different types of cancer—an aggressive form of breast cancer, a tumour that grows in the limbs of children and a type of leukaemia—have identical genetic signatures. Genetics alone could not have identified the disease or how best to treat it.
Rosai himself discovered, with South African pathologist Ronald Dorfman, a new "entity" known now as Rosai-Dorfman disease—massive but benign swelling of the lymph nodes—when they reviewed several hundred cases that had all been diagnosed as a cancerous condition. And the recognition of a new variant of Creutzfeldt-Jakob disease (CJD), associated with mad cow disease, depended on the eye of Edinburgh neuropathologist James Ironside, who had seen his first case of CJD as a newly qualified pathologist in the 1980s. To confirm his suspicion that the epidemic of mad cow disease in Britain's beef cattle might be a source of new infections in humans, Ironside went to the archives—to the material stored in brain banks in previous cases of the disease.
Having performed autopsies on more than 1,000 people who died of Aids in Africa and England in the early 1990s, Sebastian Lucas, professor of clinical histopathology at St Thomas's Hospital, London, knows as much as anyone about how HIV attacks the body. It was he, together with American pathologist Kevin De Cock, who helped to establish the existence of a mutually reinforcing link between HIV and tuberculosis—a connection that is responsible for the resurgence of TB in western countries.
The evidence gathered through postmortems often holds the key to fighting new diseases, like the Ebola virus, Sars and bird flu. Yet so few postmortems are now performed that an article in the Journal of Clinical Pathology in 2001 fretted: "At the present rate of decline, clinical [autopsies] and the pathologists sufficiently trained to perform them face extinction." At the John Radcliffe Hospital in Oxford, paediatric neuropathologist Waney Squier says that whereas she used to examine about 150 baby brains a year, this plummeted to just 13 the year after the Alder Hey inquiry, and has hardly improved since. "My skills won't be maintained if I can't look at adequate amounts of material."
Confirming the cause of death with an autopsy is also important, as it enables clinicians to identify and learn from their mistakes—(it is estimated that as many as one in 20 hospital deaths are the result of misdiagnosis). Autopsies help to uncover negligence and even murder; Harold Shipman's crimes might have been discovered earlier had postmortems of unexpected deaths been more routine.
And clinical trials of new therapies and procedures depend on postmortems. Unless there is an autopsy service available, many such trials cannot go ahead. Progress in treating all kinds of diseases from Alzheimer's and multiple sclerosis to flu and cancer is threatened if the archives of material collected at postmortem are allowed to dwindle because of the issue of informed consent. Today only about a third of relatives give permission for materials taken during paediatric postmortems to be kept for teaching and research, whereas before Alder Hey, materials that pathologists believed useful were routinely kept. "If we don't have any source of tissue, it's a bit like having no libraries, no textbooks, nothing to refer to when we want to do further studies," says Squier.
The danger of public squeamishness
A clear example of the constraints imposed by the Human Tissue Act is provided by the ongoing nationwide bowel cancer screening programme run by the NHS. Huge numbers of people over the age of 50 have been recruited to provide stool samples for indications of bowel problems. High rates of compliance depended on keeping the procedure simple, so the detailed explanations and questionnaires that would have been required to obtain consent to use the material for research and training purposes were avoided.
"The devastating thing is that we have the largest bowel cancer screening programme in the world and it's going to generate fantastic data for our understanding of bowel cancer—but we won't be able to link the information to clinical records," says Phil Quirke. It's a huge waste: the real value of the study comes from knowing what happens to the people over time—who does and doesn't get cancer—and thus whether it really does save lives. "But we can't use it for that because we haven't got permission."
Ironically, at a time when trust in the medical profession is low (the NHS spends hundreds of millions a year on compensation claims) it is the skills of pathologists that are most needed to improve diagnosis and treatment, and to mend the relationship between medicine and the general public.
So why do we love pathologists on television, but get upset by the idea of our own bodies being used to save lives? Most people simply don't understand how important pathology is to keeping us healthy. The future will bring diseases we cannot cure without the intelligence gathered from our bodies. Only when lawmakers stop pandering to our squeamishness will we finally bury the legacy of Dick van Velzen.
