Screening for Adult Disease


Principles of Screening

Introduction

Medical screening is a public health activity that involves examining or testing asymptomatic, apparently healthy people to detect disease at an early stage. Measures can then be taken to prevent the disease (if there is a precursor stage), treat it early (hoping for improved cure rates), or at least offer treatment to delay advanced disease. For example, colonic screening can detect adenomas and carcinomas; removing adenomas prevents the well-recognised adenoma–carcinoma sequence, and actual cancers detected are often earlier and at a more curable stage. Unfortunately, for other cancers without an easily detected early precursor stage, such as breast or prostate, beneficial outcomes are elusive.

Screening can detect disorders that predispose to other diseases, for example, hypertension or elevated cholesterol levels, to ascertain people at increased risk of atherosclerotic heart disease and stroke. Screening is also useful for infection control, for example, preoperative screening of patients for methicillin-resistant Staphylococcus aureus (MRSA) carrier status to enable elimination therapy before operation.

An entire population can be screened ( mass screening ) but more usually, it is targeted at at-risk groups. Selection might be by age, gender or cardiovascular risk factors, for example ( Box 6.1 ). Opportunistic screening involves a more random approach, such as screening patients who happen to attend a particular clinic.

BOX 6.1
Disorders Potentially Suitable for Adult Screening a

a This list is not exhaustive and does not include genetic screening or conditions with special risk factors.

Infections

  • Tuberculosis

  • Methicillin-resistant Staphylococcus aureus (MRSA)

Malignancy and Premalignancy

  • Cervix; colorectal (current programmes show benefit)

  • Breast (reduces deaths but overdiagnosis)

  • Prostate; bronchus (no proven benefit)

  • Oesophagus (beneficial in parts of China with a high incidence)

  • Stomach (beneficial in Japan with a high incidence)

Cardiovascular Disease

  • Hypertension (beneficial in preventing future cardiovascular events)

  • Cholesterol (beneficial in preventing future cardiovascular events)

  • Abdominal aortic aneurysm (proven benefit)

  • Ischaemic heart disease; carotid atherosclerosis; peripheral arterial disease (no proven benefit but lifestyle changes likely to bring benefit in subjects with disease detected)

Metabolic Disease

  • Diabetes (beneficial in population screening and opportunistic screening)

  • Retinopathy in diabetes (screening programmes now show evidence of benefit)

  • Thalassaemia—successful national premarital screening programme for 3 million couples has reduced the expected birth rate of affected infants by 70%

Assessing the Potential Benefits of Screening

Many lay people subscribe to the simplistic view that screening must be ‘a good thing’. These include the public, people associated with distressing diseases, populist politicians and people with vested financial interests. Poorly conceived screening, however, may consume massive resources to identify just a few new cases with little clinical benefit, for example, computed tomography (CT) scanning for lung cancer in low risk populations. Worse still, early diagnosis of a condition where early intervention brings no advantage may cause suffering. These people can be prematurely placed into an anxiety-provoking sick role and given unrealistic expectations. They may also be subjected to unnecessary treatments with potentially severe side-effects, for example, some breast or prostate cancers that might never progress to metastatic disease.

As with any public health measure, medical and social benefits accruing from any screening programme need to be rigorously evaluated and the process separated entirely from the incentive to screen for profit. Whole-body scanning by CT or magnetic resonance imaging (MRI) is currently strongly marketed on the basis that a scan will show unsuspected abnormalities and allow early treatment. Abnormalities are bound to be discovered by such extensive screening, but it is difficult to reliably determine which signify serious disease and which (if any) should be treated. Doctors should not perform unvalidated screening tests any more than they should use unproven drugs, and should resist patient pressure for inappropriate screening.

Premature Introduction of Screening

Politicians can play a part in initiating inappropriate screening programmes. UK prime minister, Margaret Thatcher sanctioned nationwide breast screening in 1988, 2 weeks before a general election; some believe this was to gain the women’s vote. The decision was premature and based on insufficiently validated evidence from the Swedish two-county study and the UK Forrest report. In the 1970s screening for cancer of the uterine cervix was widely introduced, also before its efficacy had been fully evaluated. Fortunately, it has proved successful despite the difficulty of engaging women at high risk. Sadly, the natural history of untreated dysplastic cervical cellular abnormalities was not properly established before the impact of widespread screening made this ethically impossible. This severely hampered scientific study of the disease, its early diagnosis and best treatment. More recently, the human papilloma virus (HPV) has become recognised as the cause of cervical cancer and is tested for in screening. This recognition has led to widespread and successful campaigns of HPV vaccination and proven major reductions in cervical cancer.

Criteria for Assessing a Screening Programme

Many years ago, the World Health Organization (WHO) realised that even beneficial screening could be expensive, unpleasant, inaccurate and unproductive, and could adversely affect psychological or physical well-being. In 1968 they published a list of criteria for effective screening programmes ( Box 6.2 ) including attributes of the disease, the test and the treatment. These principles are still relevant today and have been added to by the UK National Screening Committee and other groups. Box 6.3 shows a summary of these modified criteria.

BOX 6.2
World Health Organization Guidelines for Assessing When Screening Is Appropriate (Wilson and Jungner 1968 a

a Wilson JMG, Jungner G. Principles and practice of screening for disease. Geneva: WHO; 1968.

)

  • 1.

    The condition being screened for should be an important health problem.

  • 2.

    The natural history should be well understood.

  • 3.

    There should be a detectable early stage.

  • 4.

    Treatment at an early stage should be of greater benefit than at a later stage.

  • 5.

    There should be a suitable test for the early stage.

  • 6.

    The test should be acceptable.

  • 7.

    Intervals for repeating the test should be determined.

  • 8.

    There should be adequate health service provision for the extra clinical workload resulting from the screening.

  • 9.

    The risks should be less than the benefits.

  • 10.

    The costs should be balanced against the benefits.

BOX 6.3
Summary of Attributes of a Good Screening Programme

The Disease

  • Important health problem

  • Detectable truly early stage

  • Predictable biological behaviour

  • Long period between first detectable stages and overt disease

The Diagnostic Test

  • Valid (sensitive and specific)

  • Simple and cheap

  • Safe and acceptable

  • Reliable and reproducible

Diagnosis and Treatment

  • Effective, acceptable and safe treatment available

  • Evidence of better outcomes if treated early

  • Benefits of screening must outweigh risks

  • Treatment facilities must be adequate

  • Screening overall must be cost effective

  • Screening must be sustainable

Evolution of Screening Programmes

Once begun, any screening programme must remain under constant evaluation and modified or discontinued when criteria are no longer being met. For example, in the 1950s and 1960s, screening for pulmonary tuberculosis (TB) by mass miniature chest x-ray was highly successful, but it was disbanded in the 1970s when new cases fell below a level at which the unit cost per new case could be justified; interestingly, by then, the yield of new cases of lung cancer from screening began to exceed that of TB, but there was virtually no effective treatment for lung cancer at the time.

Criteria for an Effective Screening Programme

To initiate a new national screening programme, certain criteria must be fulfilled. There must be a perceived need in the medical community or in the wider public. Pilot studies are then carried out. If outcomes are promising, large scale prospective randomised controlled trials (RCTs) need to be performed, seeking robust evidence for implementation. This is critical because it is politically difficult to stop a screening programme, even when evidence shows little benefit, for example, some early breast screening programmes (Nordic Cochrane Collaboration 2001 and 2006).

The Disease

The screened condition should be an important health problem either because it is common (such as lung or prostate cancer) or has serious but preventable consequences, such as carotid artery disease or abdominal aortic aneurysm (AAA). The prevalence (proportion of cases already in a defined population) and the incidence (number of new cases in a defined population within a specified period of time) of the disease in the population at risk are discovered from pilot studies. There should be a truly early stage where treatment outcomes are better than at a late stage. Colorectal adenomas and early cancers are good examples.

The biological behaviour or natural history of the disease should be well understood, including how latent disease progresses to clinical disease, and the disease course should be reasonably predictable. For example, AAAs are known to expand smoothly for the most part and rarely rupture until they are large. The risks of untreated disease also need to be understood, and there should be a long period between the first detectable stages and overt disease.

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