Healthy people attend screening programmes. It is therefore important that the screening programme does not cause ill-health.
24.1 Population genetic screening involves testing large numbers of people, who usually have no disease symptoms, for their genetic status in relation to a particular gene or condition. Population genetic screening programs are based on the assumption that it is desirable for certain populations to be tested and for individuals to be given information about their genetic status.
24.2 Genetic screening tests are performed on individuals who are not necessarily known to have an increased risk of developing a particular genetic condition and who have not sought medical attention. By contrast, other forms of medical genetic testing generally take place after individuals seek professional treatment because they, or a relative, have symptoms. The United Kingdom National Screening Committee has observed that:
Screening is different from most other forms of health care. For most health care, the patient comes to the clinician, who will offer the treatment available on current knowledge. This may be limited, and it is legitimate for the clinician to say this. In screening, the health service is saying to apparently healthy people, ‘come to us, go through this procedure, and there will be a subsequent benefit’. Under those circumstances, it is imperative that the service is able to demonstrate that benefit will follow, and that the collective benefit will outweigh the side effects or the harm from the screening programme.
24.3 Population genetic screening can be distinguished from some other types of population screening, such as programs offering mammograms to detect breast cancer, because genetic screening is not always intended to lead directly to prevention or treatment. For example, genetic screening for carrier status is intended to inform participants in making reproductive choices and, therefore, to prevent genetic conditions arising in a subsequent generation.
24.4 This chapter discusses the types of population genetic screening programs that can be undertaken and the guidelines that have been developed to regulate them. Population genetic screening programs raise a range of privacy, ethical and other issues, which are also discussed. At present, most population genetic screening programs are subject to limited specific regulation or policy guidance.
24.5 The Inquiry has concluded that there is a need for consistent national standards for the development and implementation of population genetic screening programs. The Inquiry recommends the development of national standards by the Australian Health Ministers’ Advisory Council (AHMAC).
 Nuffield Institute for Health, Quality Management for Screening: Report to the National Screening Committee (2000), University of Leeds, Leeds, 42.
 House of Commons Science and Technology Committee, Human Genetics: The Science and its Consequences (1995), House of Commons, London .
 National Screening Committee, First Report of the National Screening Committee (1998), Health Departments of the United Kingdom, 12.
 Ibid, 14.