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Ethical Issues in Genetic Testing


  • Dale Halsey Lea RN, MPH,

    Corresponding author
    1. Dale Halsey Lea, RN, MPH, APNG, FAAN, is Assistant Director, Southern Maine Genetics Services, a public health genetics program located at the Foundation for Blood Research, Scarborough, ME.
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  • Janet Williams RN, PhD,

    1. Janet Williams, RN, PhD, PNP, FAAN, is Kelting Professor of Nursing, and Co-Director of the Postdoctoral Clinical Genetics Fellowship program at The University of Iowa.
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  • M. Patricia Donahue RN, PhD

    1. M. Patricia Donahue, RN, PhD, FAAN, is Executive Associate Dean and Professor at The University of Iowa College of Nursing.
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Dale Halsey Lea, RN, MPH, APNG, FAAN, Southern Maine Genetics Services, Foundation for Blood Research, 8 Nonesuch Road, P.O. Box 190, Scarborough, ME 04070. E-mail:


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.