Genetic testing has created both opportunities and dilemmas for personal health care as well as public health systems. The sequencing of the human genome and advances in areas such as genomics and bioinformatics have brought about new diagnostic and therapeutic procedures. These rapidly arising innovations have created policy challenges to providers and other stakeholders, such as employers, insurers, and the legal system. In 1990, the United States National Institutes of Health (NIH) created a taskforce focusing on the ethical, legal, and social implications of human genome research and diagnostic testing. Similarly, the United States and some European countries have enacted legislation addressing discrimination that genetic testing might cause. As genetic testing technologies advance, national and international guidelines attempt to prepare and educate health professionals to prescribe genetic tests and interpret their results.

This paper addresses the apparent divergence between the advances in genetic-based medicine and the guidelines concerning quality standards for genetic tests and the appropriate use of those test results. The integration of genetic medicine into primary care has spread rapidly thanks to the availability of affordable diagnostic tests for an increasing number of diseases. In this paper, we focus on four aspects of genetic testing that present particular dilemmas for health policymakers both in the United States and abroad:

1) The diffusion of genetic testing and its impact on medical practices;
2) The tension between confidentiality and transparency related to health insurance;
3) The expansion of genetic testing for embryo selection; and
4) The evolution of regulatory frameworks for the assurance of quality of genetic tests.