Dale Halsey Lea

Telegenetics in Maine: Successful clinical and educational service delivery model developed from a 3-year pilot project.

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.

Implications for Educating the Next Generation of Nurses on Genetics and Genomics in the 21st Century

PURPOSE To provide nurse educators with an updated overview of advances in genetics and genomics in the context of the holistic perspective of nursing. ORGANIZING FRAMEWORK Recent advances in genetic and genomic research, testing, therapies, and resources are presented, and the continuing importance of the family history is discussed. METHODS Genomic nurse experts reviewed recent literature and consumer resources to elucidate updates in technology through the lens of the genetically vulnerable patient and family. FINDINGS Genetic and genomic technologies are becoming routinely used in health care, and nurse educators will be challenged to incorporate these technologies and implications for patients and families into educational programs. CONCLUSIONS New technology and its applications are perennial challenges to nurse educators, but the common focus for nursing, historically and geographically, is health promotion, symptom management, and disease prevention. Education for the next generation of nurses can lay a foundation in genetics and genomics that will enable interpretation and responsible integration of new technologies in a context of individual and family value systems, personal experiences, risk perception, decision consequences, and available resources. CLINICAL RELEVANCE 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.

Ethical Issues in Genetic Testing

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.

Genomic health care: is the future now?

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.

An Ethical Assessment Framework for Addressing Global Genetic Issues in Clinical Practice

PURPOSE/OBJECTIVES To describe the perceptions of nurses regarding the importance of each action skill listed in the Ethical Assessment Framework (EAF) to their ethical decision-making process and how prepared they were to undertake each action when confronted by moral dilemmas in clinical practice, and to identify general genetic ethical issues of concern and frequency encountered. DESIGN Descriptive, exploratory. SAMPLE AND SETTINGS: Members of the Oncology Nursing Societys Cancer Genetics Special Interest Group (n = 34) and the International Society of Nurses in Genetics (n = 101). METHODS Participants completed the Ethical Assessment Skills Survey and Genetic Ethical Issues Survey. MAIN RESEARCH VARIABLES Perceptions of level of importance and preparation for each action skill in the EAF and level of concern and frequency encountered regarding ethical issues in clinical practice. FINDINGS Each ethical action skill listed in the EAF was rated as important to the ethical decision-making process, although minimal skill level was reported in 60% of the steps. Nurses reported major concerns about the frequently encountered issues of confidentiality, managed care, and informed consent. CONCLUSIONS The EAF proposes action skills that can assist nurses in developing expertise in ethical decision making and offers a model for addressing genetic ethical issues in clinical practice. Protection of patient confidentiality was the number one ethical concern of nurses surveyed. IMPLICATIONS FOR NURSING 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.

A multiplicity of roles for genetic nursing: building toward holistic practice.

Nursings unique contribution to human genetics is holism. There are many roles for basic and advanced practice nurses involved in genetics. Describing these roles makes it easy for nurses to learn more about genetic nursing and helps promote collaboration among professionals. Education for nurses about genetics helps foster greater nursing participation in human genetics. The goal is for nurses to be informed about genetics so that they can better understand people as whole persons whose growth and development, human response patterns, and biopsychosocial processes are affected by and have an effect on human DNA.

Preparing nurses for a 21st century role in genomics-based health care.

&NA; Advances in genomic research are changing the nature and focus of health care. All health professionals must be prepared with new knowledge and skill competencies to meet the social and scientific demands of clinical practice. Nurses can expect to take on new practice roles that involve family history assessments, screening, and case coordination for clients receiving genetic testing and gene‐based therapies. The authors report on successful initiatives since 1995 resulting from efforts of national organizations to advance the diffusion of genetic knowledge and genomics in nursing education and practice. Recommendations to strengthen these developments, along with strategies for nursing leadership in carving a new role, that of Genomics Nurse Case Coordinator, are presented.

Nursing and genetic health care.

Advances in DNA technology are leading to major developments in nursing practice in clinical genetics, including the creation of new roles for nurses who care for people with genetic conditions. Application of genetic information and testing is moving genetics into the mainstream of health care. Therefore, it is anticipated that nurses in all areas of practice will become involved in the provision of information about genetic testing and assisting individuals and families in decision making and adjustment to new genetic information. This article provides an overview of the profession of nursing which may be useful to genetic counselors in the development of collaborative relationships between the two professions.

Applying new genetic technologies: assessment and ethical considerations.

Discovery of genes associated with clinical disorders increases the ability of clinicians to more accurately assess risk for their clients to develop or to be carriers of certain health problems. Estimating these risks has become more precise with the addition of genetic testing. The process of client assessment and considerations associated with genetic testing for cystic fibrosis and one form of colon cancer (familial adenomatous polyposis) are presented in a case study format. Ethical considerations in the use of genetic testing include protection of privacy, protection from coercion, and assuring client understanding of implications of test results. Practitioner responsibilities also include educating clients regarding benefits and limitations of testing, collaborating with genetic counseling resources, and monitoring the client for potential adverse outcomes of testing.

Genetics in the OR—Implications for Perioperative Nursing Practice

New developments in deoxyribonucleic acid (DNA) technology are increasing understanding of the role of genetics in health and disease. This kind of health information requires that perioperative nurses develop new skills and roles that will enhance the quality of genetic health care they provide to patients, particularly with regard to managing genetic information. Perioperative nurses expand their scope of practice to incorporate a genetic focus into health assessment, patient education, and patient support as they assimilate new genetic information into their daily lives. Perioperative nurses familiar with genetic counseling services--and how and when to refer patients for such services--will ensure that all patients have access to the most current and appropriate genetic information with which to make informed health choices.