Screening and Diagnostic Testing

In Medical Genetics and Law: An International Perspective. Cham: Springer Nature Switzerland. pp. 163-208 (2025)
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Abstract

There are many occasions during a person’s lifetime when a genetic screening or diagnostic test may be appropriate. Tests are available for every stage of life, from conception to pregnancy, after birth, throughout childhood and adulthood. However, both screening and diagnostic tests have limitations. One issue may be the lack of effective treatments or preventive measures for many diseases and conditions that can currently be diagnosed or predicted. Genetic technologies continue to evolve, and best practices are not always established. Some tests, including whole genome analysis, are associated with ethical, regulatory, legal, economic and technical issues. Errors at each stage can lead to legal challenges. This chapter expands on the methods used and occasions when tests may occur. It also highlights any issues related to ethics and the law.

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