Genomic research is transforming our understanding of the role of genes in health and disease. These advances, and their application to common diseases that affect large segments of the general population, suggest that researchers and practitioners in public health genomics will increasingly be called upon to translate genomic information to individuals with varying levels of health literacy and numeracy. This paper discusses the current state of research regarding public understanding of genetics and genomics, the influence of health literacy and numeracy on genetic communication, and behavioral responses to genetic and genomic information. The existing research suggests that members of the general public have some familiarity with genetic and genomic terms but have gaps in understanding of underlying concepts. Findings from the limited research base to date indicate that health literacy affects understanding of print and oral communications about genetic and genomic information. Numeracy is also likely to be an important predictor of being able to understand and apply this information, although little research has been conducted in this area to date. In addition, although some research has examined behavior change in response to the receipt of information about genetic risk for familial disorders and genomic susceptibility to common, complex diseases, the effects of health literacy and numeracy on these responses have not been examined. Potential areas in which additional research is needed are identified and practical suggestions for presenting numeric risk information are outlined. Public health genomics researchers and practitioners are uniquely positioned to engage in research that explores how different audiences react to and use genomic risk information.

Purpose: The goal of this 3-year pilot project was to increase accessibility to genetics educational and clinical services in Maine. Methods: Southern Maine Genetics Services, Foundation for Blood Research in collaboration with Maine Telemedicine Services established telemedicine capacity to link with rural health care centers located in Northern, Central, and Southern Maine and public health nursing statewide for the provision of genetics clinical and educational services. Core partners included a rural family practice residency program, a rural pediatric practice in northern Maine, and public health nurses statewide. The telegenetics model created was based on development and implementation of a preventive and medical management technology solution, conducting a pilot study to collect data, and approaching insurance companies for reimbursement. Evaluation included surveys on the quality, acceptability, and usefulness of genetics services delivered via telemedicine, telephone interviews, and decision-making confidence evaluations. Results: During the project period, 24 rural clinical sites participated. In total, 93 presentations were given, and 125 patients were evaluated. Sixty-four percent of patients evaluated were pediatric. Despite site coordinator efforts to complete satisfaction surveys, the provider and patient response level was low (18% and 25%, respectively). Of those evaluations received, provider and patient response to telegenetics was positive. Decision-making confidence for genetics and neurology consultants was high. Our experience contributes to the development of telegenetics models that can be used in other rural states. Genet Med 2005: 7(1):21-27.

Nurses are ideally situated to inform patients about new options in healthcare, and nurse educators are challenged to prepare their students to interpret and responsibly integrate new genetic-genomic information into practice.

In some areas of health care, genomics is having a steadily increasing impact on clinical practice. Yet, in other areas, genomic developments are considered to be at the periphery of care. Health-care professionals from such areas might feel that the potential of genomics is exaggerated. To explore this issue, genetic nurse specialists were invited to submit case studies and to identify barriers and facilitators in incorporating genomics into mainstream nursing practice. Twenty-five cases were submitted and a total of 10 barriers and seven facilitators were identified. These cases were presented as a basis for debate in a session conducted at the 2006 Annual Conference of the International Society of Nurses in Genetics. The majority of delegates agreed that genomics would have a profound effect on health care and nursing within the next 5 years, particularly in oncology. That nurses do not see genomics as being relevant to their practice was identified as the greatest barrier, by a narrow majority. Specialist nurses in any field have a role in acting as agents of change, educators, and consultants to non-specialists. It is clear that genetics nurse specialists still have a considerable challenge in raising awareness about the relevance of genomics to mainstream nursing practice.

Providing clinically meaningful education and training in genomics is central to enabling every nurse to develop the appropriate knowledge and skills in genomics in order to provide optimum care to individuals and families now, and to facilitate the integration of new information and technology as it becomes available across mainstream healthcare services.

Nurses are challenged to have comprehensive and current genetic knowledge, which is necessary to advocate for, educate, counsel, and support patients and families confronting difficult genetic healthcare decisions. Nurses will be able to effectively translate genetic information to patients by developing and using ethical decision-making and counseling skills. Effective measures to protect confidentiality of patient data are important to ensure that genetic information is safeguarded.

Genetics nurses in advanced practice in the US focus on both genomic discoveries and clinical health care through the application of genomic knowledge into health care, research, and nursing education.

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.