Lea Dale Halsey, Williams Janet, Donahue M Patricia
Southern Maine Genetics Services, Foundation for Blood Research, Scarborough, ME 04070, USA.
J Midwifery Womens Health. 2005 May-Jun;50(3):234-40. doi: 10.1016/j.jmwh.2004.12.016.
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.
遗传因素会增加患病风险。通过临床筛查和基因检测，可以确定有关个体及其家庭成员患病风险的信息。在某些情况下，这些信息可用于疾病监测、预防或治疗的临床决策。然而，使用这些信息并非总是一个简单的过程。在为女性提供初级卫生保健时应用有关遗传病风险的知识，需要了解新的基因发现，以及参与解决在考虑基因筛查和检测时可能出现的伦理困境的能力。这些困境不仅源于目前关于遗传风险因素和基因检测效用的知识状态，还源于当客户的需求与家庭或社会中其他人的需求不一致时可能产生的冲突。伦理理论和原则为解决孕期母体基因状况筛查、孕前或孕期携带者检测、临床基因检测以及新生儿代谢筛查中的伦理困境提供了一个框架。
