Ethics, Policy, and Educational Issues in Genetic Testing

PURPOSE: Analyze ethics, public policy, and education issues that arise in the United States (US) and the United Kingdom (UK) when genomic information acquired as a result of genetic testing is introduced into healthcare services. ORGANIZING CONSTRUCT: Priorities in the Ethical, Legal, and Social Issues Research Program include privacy, integration of genetic services into clinical health care, and educational preparation of the nursing workforce. These constructs are used to examine health policies in the US and UK, and professional interactions of individuals and families with healthcare providers. FINDINGS: Individual, family, and societal goals may conflict with current healthcare practices and policies when genetic testing is done. Current health policies do not fully address these concerns. Unresolved issues include protection of privacy of individuals while considering genetic information needs of family members, determination of appropriate monitoring of genetic tests, addressing genetic healthcare discrepancies, and assuring appropriate nursing workforce preparation. CONCLUSIONS: Introduction of genetic testing into health care requires that providers are knowledgeable regarding ethical, policy, and practice issues in order to minimize risk for harm, protect the rights of individuals and families, and consider societal context in the management of genetic test results. Understanding of these issues is a component of genetic nursing competency that must be addressed at all levels of nursing education.     

Assessing the psychosocial impact of the ICD: a national survey of implantable cardioverter defibrillator health care providers

The implantable cardioverter defibrillator (ICD) provides a survival advantage over antiarrhythmic medications for patients with life-threatening ventricular arrhythmias. However, the effect of ICD therapy on quality-of-life and psychosocial functioning are not as well understood. Health care providers (e.g., physicians, nurses) can serve as a valuable source of information related to these ICD outcomes. The purpose of this study was to investigate health care provider perceptions regarding: (1) the quality-of-life and psychosocial functioning of their ICD recipients, (2) the concerns or problems reported by ICD recipients, and (3) the degree of provider comfort in managing these concerns. The final sample of health care providers (n = 261) rated ICD recipients' global quality-of-life and psychosocial functioning, and specific concerns about health care, lifestyle, special population adjustment, marital and family adjustment, and emotional well-being. With regard to quality-of-life, health care providers reported that the majority of ICD recipients were functioning better (38%) or about the same (47%) than before implantation. However, health care providers reported that 15% of recipients experienced worse quality-of-life postimplantation. Similarly, health care providers indicated that 10%-20% of ICD recipients experienced worse emotional functioning and strained family relationships. Moreover, issues related to driving, dealing with ICD shocks, and depression were the most common ICD recipient concerns. Significant differences were noted between physicians and nurses/other health care professionals on a wide range of psychosocial issues. Health care providers generally reported the most comfort dealing with traditional medical issues (i.e., patient adherence), and the least comfort in managing emotional well-being issues (e.g., depression and anxiety). These results suggest that routine attention to ICD quality-of-life and psychosocial outcomes is indicated for health care providers who care for ICD recipients.     

Does privacy matter? Former patients discuss their perceptions of privacy in shared hospital rooms

As a relative concept, privacy is difficult to define in universal terms. In the New Zealand setting recent legislation aims to protect patients' privacy but anecdotal evidence suggests that these policies are not well understood by some providers and recipients of health care. This qualitative study set out to identify some of the issues by exploring former patients' perceptions of privacy in shared hospital rooms. The findings suggest a conditional acceptance of a loss of privacy in an environment dictated by architectural structure and by fiscal and time constraints. Participants indicated an awareness that personal information could be overheard and that their preference for a choice of setting for serious discussions was desirable. Some enjoyed the support offered in shared rooms, while, for others, overhearing another person's health issues caused unnecessary distress. The participants suggested that knowing they could be overheard constrained information disclosure. This withholding of information has implications for health professionals' ability to diagnose and treat patients appropriately.     

Legal issues associated with genetics

With the evolution of genetic research, legal issues have emerged related to the health care delivery industry and the protection of patient information. The use of genetics or genetic enhancement expands the role of the nurse and also brings a new perspective to the nurse-patient relationship. Nurses now must discern their role in relation to patient privacy and confidentiality. In addition to reviewing the ethical and legal dilemmas of registered nurses in clinical practice, the nursing profession must review the level of responsibility appropriate when using genetic and or experimental treatments, especially when the nurse is not the primary care provider or the leader of the research team. Nurses will have to delve into privacy and confidentiality issues associated with genetic research. Although little case law exists on the relationship of nursing to genetic research and treatments, the implications of experimental research and policy associated with genetics must be analyzed to better understand their impact on the scope of nursing practice.     

An historical perspective on genetic care

The outcomes of genetic research endeavors have the potential to transform health care with significant implications for both providers and consumers of clinical services. Professional and public integration of genetics knowledge is key to successful utilization of genetics information. This article will provide an overview of genetics including a historical perspective, examples of genetic health care, the nursing perspective, and ethical considerations and challenges. New scientific explanations for health, disease, responsiveness to treatment, and design of options for care may create personal and professional dilemmas. Nurses have a responsibility to become active participants in confronting the demands resulting from this new knowledge for education, practice, and policy. The purpose of this article is to provide a foundation from which the profession of nursing can build to enhance current skills and knowledge about genetics to prepare for this transformation in health care.     

The individual, the family, and genetic testing.

Genetics plays a role in every disease, yet few health care providers understand basic genetic principles or the science underlying the genetic testing process. An understanding of the science behind genetic advances is necessary, and it is equally important for health professionals to have an understanding of the complex nature of genetic testing for individuals and their families. Much of the debate about the psychological effects of genetic testing has occurred in the absence of empirical data on diseases for which predictive testing has only recently emerged. This article will review selected literature on genetic testing and its implications for the individual and the family. The responses of families and individuals to the diagnosis of a genetic disease will be reviewed, and Huntington disease will be used as the paradigm for examining issues related to genetic testing for adult-onset cancers. Literature addressing the response to genetic susceptibility for adult-onset cancers and the implications of testing children also will be explored. Finally, identification of emerging issues relevant to genetic screening will provide a framework for identifying needed nursing research in genetic testing for adult-onset cancer risk.     

Genetic and Genomic Public Health Strategies: Imperatives for Neonatal Nursing Genetic Competency

Proficient nursing care for neonates includes anticipating and meeting future demands of genetic competency. Three strategies where emerging issues presently call for neonatal nursing genetic competency development are increased power and significance of neonatal family health histories, population genetic biobanking, and newborns' family genetic advocacy. Neonatal nurses in their advocate, educator, and leadership roles can develop or maintain genetic competency in newborn care by targeting:

• collaborative efforts between nurse and family regarding neonatal family health history preparation and understanding of its genetic implications;

• referrals to and partnerships with genetic advocacy groups in programs and leadership that empowers neonate's families;

• methods to assure privacy and protection of present infants' genetic information while also serving the interests of future infants who may derive benefit of scientific use of the present infant's DNA; and

• support and collaboration with parents who will be making biobanking decisions regarding their child's DNA becoming part of population-based and/or genetic advocacy biobanks.

Genetic and genomic public health strategies frame areas where it is imperative for neonatal nursing to investigate best practice for future and present newborn population's outcomes.     

Caring for Children With Special Health Care Needs and Their Families: What Advanced Practice Nurses Need to Know

According to a recent national survey, 1 in 5 American households with children has at least 1 child with a chronic or disabling health condition. Advanced practice nurses can facilitate effective, comprehensive, coordinated care for children with special health care needs by understanding the implications of chronic conditions on families, including psychosocial effects on children and family members, screening and transition issues, and the system of care for children with special health care needs. This article provides key recommendations for primary and specialty care providers based on the latest evidence from research.     

Psychological aspects of second pregnancy

Major psychological characteristics of the second pregnancy experience are described, including maternal tasks and sources of anxiety for secundigravidas, as a basis for improving care to expanding families. Clinical implications are suggested that meet the special needs of second-time mothers regarding time limitations to meet multiple demands, family relationship changes, and concerns about maternal health and fatigue. Strategies for enhancing care involve using childbirth and sibling classes, modifying health care and information from primary care providers, mobilizing supportive services and resources, and influencing policies to meet maternal and family needs.     

Withdrawal of life-sustaining therapy after sudden, unexpected life-threatening illness or injury: interactions between patients' families, healthcare providers, and the healthcare system.

BACKGROUND: Withdrawal of life-sustaining therapy in intensive care units is increasing. Patients' families are intimately involved in this process because the patients are usually unable to participate. Little is known about family members' interactions with healthcare providers and the healthcare system during this process. OBJECTIVE: To describe the interactions between patients' family members, healthcare providers, and the healthcare system during withdrawal of life-sustaining therapy after a sudden, unexpected illness or injury. METHODS: The investigation was part of a larger interpretative phenomenological study. Nineteen families (56 family members) who participated in the process of withdrawal of life-sustaining therapy for a family member were interviewed and observed. An inductive approach to data analysis was used to discover units of meaning, clusters, and categories. RESULTS: The families' experiences involved a variety of dimensions, including issues with healthcare providers (bonds and consistency with nurses and physicians, physicians' presence, information, coordination of care, family meetings, sensitivity to time, and preparation for the dying process) and issues with the healthcare system (parking, struggles with finding privacy, and transfers of patients). CONCLUSIONS: Patients' families need information, guidance, and support as the families participate in the process of withdrawal of life-sustaining therapy. The results of this study have important implications for clinical practice and future research.     

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.     

Advances in preconception genetic counseling

Preconception counseling offers couples contemplating pregnancy the opportunity to identify and reduce potential pregnancy risks, plan care for known risks, and establish early prenatal care. The goal of preconception counseling is to promote physically and emotionally healthy parents in an attempt to ensure optimal prenatal, intrapartum, and postpartum maternal and fetal health. The advantages of addressing these issues prior to conception include the opportunity of giving recurrence or occurrence risk information for informed decision regarding pregnancy, the accessibility of more reproductive options such as preimplantation genetic diagnosis, and the opportunity to make lifestyle, medical, and behavior alterations for optimal maternal and fetal outcome. This article will discuss advances and updates in preconception genetic counseling including risk assessment and potential intervention for concerns identified through evaluation of family history, ethnicity, maternal age, medical and obstetric history, and associated psychosocial and nursing implications. Significant advances have emerged in the areas of cystic fibrosis carrier screening, first trimester screening, preimplantation genetic diagnosis, and detection and treatment of maternal thrombophilia.     

Health information privacy protection: crisis or common sense?

Concerns about the protection of personally identifiable information are not unique to the health care industry; however, consumers view their medical records as more "private" than other information, such as financial data, because involuntary disclosure can affect jobs or health insurance status. This paper briefly touches upon new sweeping federal privacy standards mandated under the Health Insurance Portability and Accountability Act of 1996 (HIPAA). The article outlines who and what is covered under the new rules, considers how practitioners can approach compliance with common sense, addresses concerns related to risk management, discusses consumer health privacy issues, and notes the difficulty of evaluating these rules and regulations. The article also looks at some unique privacy issues facing telemedicine and telehealth practitioners.     

Genetic counselors: Your partners in clinical practice

As our understanding of the human genome has grown, so too has the need for health care providers who can help patients and families understand the implications of these new discoveries for their health care. Increasingly, genetic counselors are working in partnership with physicians to provide a continuum of care from risk assessment to diagnosis. In this article, we explain the process of genetic counseling and its value for patients who have a personal or family history of a hereditary condition.     

Palliative care in Argentina: perspectives from a country in crisis

Argentina is a large South American country with a high prevalence of chronic disease-related mortality and a clear need for implementation of palliative care. Primary concerns related to palliative care are cultural, socio-economic and educational. Increasing poverty, patients and families receiving inadequate information about their diagnosis or prognosis, drug availability and costs, and insufficient knowledge by health care providers are obstacles to palliative care. Palliative care programs are developing throughout the country and methods by which they are meeting their needs are described. Several Argentinean palliative care initiatives are described and the role of the Pallium Latinomérica training program is discussed.     

Assistive technology: providing independence for individuals with disabilities.

Despite improvements in technology and health care, the number of people with disabilities, and the complexity of needs that they and their families experience, continue to increase. In response to these needs, specialized technology has been developed that helps people with disabilities to become more independent and more involved in the activities in their homes, schools, and communities. However, many individuals with disabilities, their family members, and many rehabilitation service providers are not aware of the availability, use of, and benefits afforded by assistive technology devices. Further, many providers have not received the pre-service academic preparation required to provide services and support to their clients. Preparation includes acquiring the knowledge and skills needed for evaluation of client needs, making appropriate assistive technology recommendations, and developing advocacy skills such as writing letters of necessity that justify funding for assistive technology devices. This article provides information about these issues and suggests that further information is available through continuing education courses as well as articles in the reference list and other sources cited in the accompanying tables.     

A nursing PhD specialty in health policy: University of Massachusetts Boston

This article describes the Nursing PhD Program specialty in health policy conceived and developed at the University of Massachusetts Boston. The rationale for a specialty in health policy is that nurses have valuable knowledge and a unique perspective of the health care system. Nurses belong to the largest group of health care providers and are the providers that spend the most time with patients. The nursing profession has a responsibility to help assure members of society have access to safe and effective quality health care. As a group, nurses need to be politically savvy to translate their knowledge and perspective to benefit society. Nurses need to direct their attention to understanding issues and policy arguments and to contribute to policy discussion with reasoned arguments and objectivity. The PhD program at the University of Massachusetts Boston prepares nurses as policy analysts, researchers, and educators who will positively contribute to the health of society.     

Determining the market for nurse practitioner services: the New Haven experience

This study examined factors associated with the intent to use nurse practitioner (NP) services among 331 residents of the New Haven, Connecticut, urban area. Using a stratified random sample, a telephone survey was conducted to investigate the significance of selected socio-economic, attitudinal, cognitive, and health care use characteristics known to influence consumers' choices about health care providers and services. Applying marketing concepts, these findings indicated that 62% of the respondents would use NP services. Chi-square analysis and stepwise logistic regression indicated that dissatisfaction with present health care, family size, and age were the best predictors of intent to use NP services. Respondents believed that NP services were not different from physician services; they were concerned about issues of availability and cost of care. Consumers would seek NP care if it were covered by health insurance and if it cost less than physician care. Implications for designing effective marketing strategies and policy development are discussed.     

Practitioner ethics and managed care

Mental health services provided through a managed care company cause some serious ethical concerns for providers and potentially for licensing boards. Confidentiality, record keeping, abandonment of patients, and informed consent are a few of the major issues confronting providers and the patients with whom they work. The importance of these issues for providers and the need for managed care companies and their employees to pay more attention to these ethical problems are covered in this article.