Education And Debate

Appraising organised screening programmes for testing for genetic susceptibility to cancer

BMJ 2001; 322 doi: http://dx.doi.org/10.1136/bmj.322.7295.1174 (Published 12 May 2001) Cite this as: BMJ 2001;322:1174
  1. Vivek Goel (vivek.goel@utoronto.ca), associate professor and chair, for Crossroads 99 Group.
  1. Department of Health Administration, McMurrich Building, Toronto, Ontario, Canada M5S 1A8
  • Accepted 14 February 2001

Public health officials rely on criteria developed by Wilson and Jungner for assessing whether or not to implement population screening programmes. These criteria were developed over 30 years ago, when screening primarily focused on detecting early stages or precursors of chronic disease. With the introduction of testing for genetic susceptibility, particularly for cancer, it is important to assess whether these criteria can continue to be applied in the decision making process. We report on a workshop that assessed criteria for population screening in the context of testing for genetic susceptibility to cancer.

Many criteria for the evaluation of screening programmes have been proposed, 1 2 and most are similar to those proposed by Wilson and Jungner in a 1968 World Health Organization report.3 The criteria are based on a simple linear model of disease progression (figure) in which screening tests primarily detect a preclinical asymptomatic phase.

Summary points

Screening has expanded from early detection of disease or its precursors to include testing for susceptibility, such as genetic testing for cancer

The Wilson and Jungner framework for evaluating screening tests, produced for the World Health Organization in 1968, is commonly used for population screening

The relevance of this framework for testing for genetic susceptibility to cancer has not previously been assessed

A modified Wilson and Jungner framework can continue to provide a robust approach to evaluating testing for genetic susceptibility

The continuum of screening has expanded to include a range of other states. The figure illustrates another model for screening—screening for risk factors or susceptibility, the detection of risk factors for disease4 (such as blood pressure or cholesterol concentration), or the identification, through the detection of genetic markers, of individuals who have increased susceptibility to disease.5 Separate consideration of these forms of screening is important as the type of interventions …

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