Human genomics: challenges and opportunities.

The pace of knowledge development related to genetics continues to progress exponentially. Knowledge gained through the Human Genome Project will have a profound impact on the practice of nursing, and the widespread integration of genetics into nursing education, clinical practice, and research will be essential. Many nurses continue to view genetic services as relegated to a specialist in a tertiary center and not relevant to their practice. This is certainly about to change. This article reviews the major implications of Human Genome Project for changing the landscape of health care and nursing, discusses several specific examples of genetic testing, and describes strategies under way to help prepare nurses to meet these new demands. Understanding new DNA-based genetic-testing technologies will be important for nurses as these tests become more available and nurses assist clients in the management of their genetic health. Nurses must become active participants in embracing the challenges and opportunities related to this genetic revolution, which over the next 5 to 10 years will reach nurses in every specialty and in every practice setting.

Genetics in perinatal nursing: clinical applications and policy considerations.

Genetics is becoming an important part of perinatal nursing care. The need for genetic counseling and referral may be identified before conception, early in pregnancy, upon the demise of a fetus with an abnormality, or after the birth of an infant with a genetic condition. Perinatal nurses often are present when parents first discover the presence of a genetic condition in their fetus or infant. Women who will be 35 at the time of their infant's birth and women who have family histories of genetic disorders should be offered appropriate screening tests.

Effectiveness of a genetics self-instructional module for nurses involved in egg donor screening.

OBJECTIVE: To evaluate the effectiveness of a self-instructional module in increasing nurses' knowledge of genetics. DESIGN: Pretest/posttest study design. Participants completed a pretest questionnaire used to measure baseline knowledge of basic human genetic concepts and risk assessment and collect descriptive data. Participants then reviewed a self-instructional module and completed a posttest questionnaire. SETTING: Study materials were mailed to 262 registered nurses involved in screening egg donors at 177 reproductive health centers in the United States from July to September 2000. PARTICIPANTS: Sixty-five registered nurses working at reproductive health centers. One hundred of 262 eligible nurses completed the pretest (38% return rate) and 65 of these 100 nurses also completed the posttest (65% retention rate). INTERVENTION: A 22-page self-instructional booklet on genetic risk assessment. MAIN OUTCOME MEASURES: Pretest and posttest responses. RESULTS: There was a significant increase of 20.8% in participants' mean knowledge score on the posttest (M = 89.0%, SD = 8%, range = 67%-100%) as compared with the pretest (M = 69.0%, SD = 12%, range = 42%-92%), based on paired t-test analysis (t = 11.74, SE = 0.426, p < .0001). CONCLUSION: A genetics self-instructional module for registered nurses was effective in increasing knowledge of basic human genetic concepts and risk assessment. More in-depth independent study programs in genetics for nurses are recommended.

The Human Genome Project: ethical and legal considerations for neuroscience nurses.

The Human Genome Project has nearly completed the identification of the human genome. The medical, social, and legal implications are numerous. Neuroscience nurses have the unique opportunity to be an integral part of the genetics age because of the many genetic-based neuroscience diseases.

Ethical aspects of genetic testing.

This article explores ethical concerns and emerging dilemmas associated with the proliferation of information resulting from the extraordinary advances in molecular genetics. It provides an overview of the ethical and legal challenges associated with predictive testing for inherited disease currently being addressed in the literature. Finally, it offers a framework of ethical principles that can be used to guide nurses and other practitioners in the appropriate application of research findings to the clinical practice setting. The ethical guidelines of self-determination, benefit-burden ratio, and justice promulgated in The Belmont Report are interpreted in the new context of predictive genetic testing. The author concludes by discussing how to balance the technical imperative to advance genetic knowledge for the sake of human health with the ethical imperative to preserve the fundamental rights and liberties of both individuals and communities who are its recipients.

Hereditary cancers in children and ethical and psychosocial implications.

This article describes the application of genetic testing of children for hereditary cancers and the resultant ethical and psychosocial implications. Basic cancer genetics concepts are reviewed. Specific hereditary cancers that may affect children are described along with case examples and recommendations for nursing practice.

Collective fear, individualized risk: the social and cultural context of genetic testing for breast cancer.

The purpose of this article is to provide a critical examination of two aspects of culture and biomedicine that have helped to shape the meaning and practice of genetic testing for breast cancer. These are: (1) the cultural construction of fear of breast cancer, which has been fuelled in part by (2) the predominance of a 'risk' paradigm in contemporary biomedicine. The increasing elaboration and delineation of risk factors and risk numbers are in part intended to help women to contend with their fear of breast cancer. However, because there is no known cure or foolproof prevention for breast cancer, risk designations bring with them recommendations for vigilant surveillance strategies and screening guidelines. We argue that these in effect exacerbate women's fears of breast cancer itself. The volatile combination of discourses of fear, risk and surveillance have significant ethical and social consequences for women's lives and well-being. Genetic testing decisions are made within this context; if nurses understand this context they can play an important role in helping women to cope with the anxiety and fear of breast cancer risk.

Insights into genetic testing for colon cancer: the nurse practitioner role.

As new genetic discoveries continue to gain public awareness, patients will increasingly call on their nurse practitioners (NPs) to discuss their inherited susceptibility to disease. Genetic testing for colon cancer can presently identify gene mutations for 2 inherited forms of this disease, familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer, accounting for approximately 6% of the cases. By identifying patients at high risk for colon cancer, NPs can discuss the benefits of early detection through screening procedures while helping patients gain insight into the meaning and impact genetic testing can have on their lives. This article discusses the basic genetics involved and screening recommendations for those with a hereditary disposition to colon cancer. Benefits, risks, and limitations are also considered, along with the importance of the NP in educating and supporting individuals in their decision making about genetic testing for colon cancer.

Prenatal genetic screening.

This article presents a discussion of screening principles and techniques available to screen for common birth defects during pregnancy. Sixty-five to 70% of women have serum screening and /or ultrasound during pregnancy to evaluate the health and well-being of the developing fetus. The most common birth defects identified by screening include neural tube defects and chromosome abnormalities. Nurses employed in prenatal care settings need to have accurate information they can provide to women so they understand the benefits and limitations of screening. Timely presentation of information and identification of available resources will help nurses minimize confusion and provide support for women as they proceed with pregnancy screening.

Genetic testing and mental health: the model of Huntington disease.

Genetic aspects of mental health disorders are being identified through human genome and family research. Gene discovery makes diagnostic and presymptomatic testing possible. The discovery of a gene mutation for Huntington Disease (HD) enables at-risk persons to request presymptomatic genetic testing. When HD genetic testing is offered through HD testing centers, a multi-visit protocol is followed in which education and counseling are provided for persons considering the option to have HD gene testing. A case study illustrates the clinical and ethical issues regarding privacy and disclosure as well as the personal and family consequences of gene mutation knowledge. Analysis of the impact of genetic knowledge on persons being tested for HD provides a model for the integration of emerging genetic information into mental health nursing practice for other mental health disorders.

Heart stopper genes: would you recognize a high risk patient?

Coronary artery disease (CAD) is one of the leading causes of death in the United States. Eighty percent of people having heart attacks have normal cholesterol levels. A quarter of the population have a condition called low-density lipoprotein (LDL) pattern B that has been associated with a threefold risk of myocardial infarction. Although early intervention can often prevent an otherwise fatal event, these patients often go unrecognized until after a myocardial infarction has occurred because they may not have the usual risk factors associated with cardiovascular disease. In patients with LDL pattern B, the standard lipid panel may be normal and inadequate for diagnosis and treatment of the condition. This article discusses how to identify a potentially high risk patient, available laboratory tests, management options, and the role of nurses in identifying high risk patients. The second author tells his personal story of surviving multiple cardiac arrests at a young age before being diagnosed with this condition.

Implications for nursing of the Human Genome Project.

Information obtained from the Human Genome Project, initiated in 1990 and targeted for completion in 2005, will influence both health care and nursing practice. It will substantially revise our understanding of disease susceptibility and causation. Additional genetic tests will be developed and gene therapies explored. The project has implications for both nursing research and nursing practice. This article reviews the establishment of the Human Genome Project, reports on current progress of the project, and identifies some implications of the project for health care generally and nursing specifically.

Carrier screening for cystic fibrosis: a perinatal perspective.

Cystic fibrosis (CF) is one of the most common autosomal recessive disorders in the United States today. One in 29 Americans, greater than 10 million people of Caucasian ethnicity, is a carrier for this genetic condition. Although it has been 10 years since the discovery of the gene for CF, carrier screening is not yet a standard of practice. The ultimate goal of carrier testing is to provide individuals at risk with information and guidance that will permit them to make informed and independent decisions. It can be anticipated that perinatal nurses will be part of the process of carrier screening of CF for prenatal patients. This article describes the nature of CF, the options for testing, and the basics of the molecular testing so nurses can be instrumental in the education process when this becomes standard practice.