Ethical Issues in Genetic Testing

Dale Halsey Lea, RN, MPH; Janet Williams, RN, PhD; M. Patricia Donahue, RN, PhD


J Midwifery Womens Health. 2005;50(3):234-240. 

In This Article

Abstract and Introduction


Genetic factors contribute to risk for disease. Information clarifying risk in an individual and his/her family members can be identified through clinical screening and genetic testing. In some circumstances, this information can be used in clinical decisions about surveillance and prevention or treatment of disease. However, use of this information is not always a straightforward process. Application of knowledge about risk of genetic disease in provision of primary health care for women requires understanding of new genetic discoveries as well as the ability to participate in resolution of ethical dilemmas that may result when genetic screening and testing are considered. These dilemmas arise not only from the current state of knowledge about genetic risk factors and utility of genetic tests but also result from conflicts that can arise when the needs of the client are not in unison with needs of others within the family or society. Ethical theories and principles provide a framework for resolving ethical dilemmas in maternal screening for genetic conditions during a pregnancy, carrier testing prior to or during a pregnancy, clinical genetic testing, and newborn metabolic screening.


Recent advances in knowledge of the human genome have led to a much greater understanding of the role of genes in all body processes and in human illness and health. Similarly, recent technological advances have provided the tools that allow genetic testing for a number of disorders. Indeed, the capabilities to test and identify various disease-related genes in individuals have developed so rapidly that a number of new ethical issues have arisen.[1] This article reviews clinical dilemmas related to genetic testing and use of genetic information. Ethical theories, principles, and decision-making models are reviewed. Examples of cases commonly encountered in midwifery and women's health practice are presented.

Acting as an advocate for informed choice, shared decision making, and the right to self-determination is an important role for all clinicians.[2] This advocacy role will expand as knowledge of genetics becomes increasingly applied in prenatal care and management. Much of this occurs during the assessment process, when a clinician identifies likelihood that the woman, her offspring, or her family members have or may develop a disease or condition in which genetic factors have a major role. Genetic assessment procedures include expanded maternal screening, options for cystic fibrosis carrier testing (CFCT), expanded newborn screening, and strategies to identify health risks for all family members using a genetic family history.[3]


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