Societal aspects: Ethics

Abstract

Non-invasive techniques to diagnose genetic disease have advanced rapidly in recent years and include prenatal diagnosis for fetal aneuploidy and single gene disorders, and early screening and diagnosis for people affected by cancer and diabetes. In this chapter we consider some of the key ethical issues arising as a result of this new technology. We highlight how non-invasive testing offers a number of significant benefits to patients including safe and early testing. Issues that have been raised as concerns include the erosion of informed decision-making, pressure to test, testing for non-medical reasons or for information only and the broader societal impact that the widespread introduction of non-invasive testing may have. These are issues that should be considered when developing practice guidelines.