The human genome and public policy: a nursing perspective

The Human Genome Project has completed a rough draft of the sequence that comprises human DNA. For the first time, the scientific discoveries have been conducted in tandem with research exploring the social, legal, and ethical implications of the research. Several committees have studied the policy implications of the genetics information explosion. The Secretary's Advisory Committee on Genetic Testing's report was received by the Secretary of the U.S. Department of Health and Human Services in November 2000 and contains recommendations for the oversight of genetic testing. Public policy issues that affect nursing practice in the area of genetics must be explored by individual nurses and professional nursing organizations.     

From genetics to genomics: using gene-based medicine to prevent disease and promote health in children

The remarkable achievements of the Human Genome Project promise great opportunities for disease prediction, treatment, and prevention. In this paper, we discuss the continuum of genetic variation as medical practice begins to shift focus from the study of single genes (genetics) to the study of the entire genome (genomics). Pediatricians should anticipate an influx of genetic information and will need to become as facile in interpreting this type of predictive information as they are with other types of medical data, while recognizing the unique ethical, legal, and social implications of genetic testing in children. We discuss an approach to assist pediatricians in decision-making that emphasizes the need for knowledge about the analytic performance of genetic tests, their validity in predicting health outcomes, and the utility of the genetic information in improving health and preventing disease.     

Assisted Reproductive Technologies: Genetic and Nursing Implications

The convergence of the fields of clinical genetics and assisted reproductive technologies is providing couples at risk for transmitting a genetic disorder to their children with new reproductive alternatives. The ability to test the preimplantation embryo for genetic anomalies, sort for X- and Y-bearing sperm, and improve genetic screening of gamete donors and couples at risk for a genetic disorder, are examples of these alternatives. The scope of nursing practice will be affected by the integration of these technologies into the health care offered to consumers. Opportunities also will exist for nurses to assist in the redefinition of health and illness that will be the serendipitous outcome of these scientific advances.     

Genetic competencies essential for health care professionals in primary care

The completion of the sequencing of the human genome in 2003 signaled the onset of the genomic era in health care. The knowledge gleaned from the Human Genome Project has led to the understanding that every health problem has a genetic component and that clinicians should include the application of genetic information in all aspects of health care. This article describes the genetic competencies essential for all health care professionals in primary care. Health care professionals should augment their current practice by obtaining a multigenerational genetic family history for each patient, assessing all patients for potentially heritable conditions, providing referrals to genetic health professionals as needed, offering genetic testing when indicated, and considering an individual's genetic makeup in the selection of medications and treatments for that person. Finally, all health care professionals ought to be prepared to address the complex personal, cultural, theological, ethical, legal, and social issues associated with genetic testing and other genetic issues commonly encountered in clinical practice.     

Implications of the Human Genome Project for obstetrics and gynecology.

The initial sequencing of the human genome should be regarded as a milestone in a road that stretches years into the future; the full ramifications of the Human Genome Project are still only being theorized. Researchers will benefit from the catalog of human genes in studies of the genetics of disease susceptibility and the cell biology of gene interactions. Clinicians will increasingly offer genetic or biochemical testing to identify those at highest risk for a number of diseases. Drug discovery will eventually follow newly possible studies of gene expression and protein function. However the Human Genome Project eventually shapes medicine, it is certain that physicians, particularly obstetricians and gynecologists, will need to be well versed in the scientific and ethical issues involved, inasmuch as we will likely be at the center of the most heated debates.     

The Human Genome Project and the genetics of infertility

Nine years after the beginning and five years before the expected end of the Human Genome Project, we will have access in several months to 90% of the human genome sequence. This data certainly opens promising vistas to the better understanding of gametogenesis. This will allow the different types of sterility to be studied through new approaches. The aim of the current review is to describe how the Human Genome Project has proceeded in the last ten years. We also discuss to what extent the knowledge of the human genome sequence is important in understanding the genetic basis of some diseases, such as human infertility. Finally, we review the different methodologies to use this information and their limits.     

Reproductive options for individuals at risk for transmission of a genetic disorder

The basis of human growth and development has long been considered to be one of the great mysteries of science and mankind. The portal to understanding this mystery was achieved by the Human Genome Project and Celera Genomics in 2001, with their joint announcement of the sequencing of 99% of the human genome map. Current reproductive options, however, remain restricted to the prevention of transmitting an at-risk gene or genes, but do not include treatment or cure. It is anticipated that this state of "halfway technology" will continue for years to come. As such, the scientific and ethical issues associated with each of these reproductive options will continue to affect the decision making of at-risk individuals. As the omnipresent health care provider, nurses have a duty to know and disseminate accurate and current information about reproductive options for individuals at risk for transmission of a genetic disorder. Nurses also have a duty to advocate for and ensure the privacy and confidentiality of genetic information.     

Genetic-Based and Assisted Reproductive Technology of the 21st Century

The scientific advances of human genetics and assisted reproductive technology are redefining the concepts of health and illness by revealing the mysteries of the human genome and the process of conception, implantation, and diagnostic testing of the human embryo. The effect of these discoveries and their clinical applications will move from the tertiary to primary care arena through the ability to readily screen, diagnose, and treat some disorders and offer cure as the end result for others. In addition, the ethical, legal, and social issues, along with the attendant implications for professional practice, will need to be identified. Only a small portion of nurses have had to address the knowledge and practice issues associated with these advances. "Brave new families" are being created. Perinatal nurses must be prepared to meet the emerging needs of these families through the art and science of nursing.     

Mining the human genome for new health therapies

The completion of the Human Genome Project heralds advances in determining the foundations of disease and in developing new therapeutic treatments. Tests already exist for the detection of some genetic abnormalities that can cause disease, and more are being developed. In the future, pharmacogenetics will be used to tailor treatment to specific patients.     

The new genetic era in reproductive medicine: possibilities, probabilities and problems

The "New Genetic Era" will be a period of enormous exponential growth in our knowledge of the structure and function of the basic information blocks of life. The Human Genome Project will soon provide a complete and accurate sequence of the human genome. This will give us an abundance of basic genetic knowledge and provide a molecular understanding of disease, allowing for improved diagnosis and more sensitive and specific screening for disease. This will, we hope, lead to better treatments, prevention and cures through gene therapy, patient-specific drug design, and earlier and more specific behavioral interventions to prevent disease. With this information comes a complexity of legal, ethical and social concerns about potential use and abuse. The public has expressed its concerns about the potential for genetic discrimination. However, genetic information is enhancing our knowledge as to the causes of infertility, allowing diagnosis of more diseases in the prenatal period, and may aid our identification of patients at increased risk for breast and ovarian cancer. Doctors involved in reproductive medicine must become knowledgeable about the new genetic era so as to offer our patients the most appropriate and informed care.     

Toward the etiologies of congenital heart diseases

Congenital heart disease remains a significant cause of morbidity and mortality. In recent years, significant advances in molecular genetics, improved understanding of morphogenesis, recognition of specific patterning of abnormalities within and between species, and the impact of the Human Genome Project have accounted for these advances. Continued rapid developments in genomics and proteomics are anticipated. Epidemiologic investigations continue to be necessary to assess the influence of the environment on genetics. We are on the threshold of influencing the occurrence of congenital heart diseases.     

Professional Nursing Education in the Future: Changes and Challenges

Trends in health care suggest changes in nursing practice and implications for nursing education. Changing demographics, emphasis on health promotion, health care costs, movement toward community-based care, and expanding technology are factors that shape the health care system of the future and educational preparation of nurses. This article examines these trends and implications for nursing education. Faculty are faced with preparing students for future practice that will be more complex and specialized than it now is; will be provided in multiple settings; and will require extensive knowledge, critical thinking and other cognitive skills, technologic and psychomotor skills, and a value system for making ethnical decisions. Other outcomes of nursing education program include learning to learn, handling ambiguity, thinking like a professional, and accepting responsibility for decisions made in practice. For nursing to assume a central role in the health care system of tomorrow, reform in nursing education is needed today.     

Genetic screening and diagnosis

PURPOSE OF REVIEW: To review the latest developments in screening and diagnosis of non-chromosomal genetic diseases. RECENT FINDINGS: Major recent advances include the completion of the Human Genome Project, the use of microarray and related technologies for mass screening and diagnosis of thousands of genetic abnormalities, and non-invasive prenatal diagnosis using fetal DNA in maternal plasma. SUMMARY: The rapid development in molecular biological technologies makes it possible to screen and to diagnosis thousands of genetic conditions, mutations and also predispositions to chronic diseases or traits, either prenatally or after birth. Clinical application of non-invasive prenatal diagnosis using fetal DNA in maternal plasma has become a reality. The arrival of the molecular genetic era also leads to many new ethical, social and medico-legal problems and dilemmas that obstetricians will have to face in the near future. There is an urgent need for the development of a new model for provision of genetic screening and diagnosis.     

Legal Issues in Neonatal Nursing: Considerations for Staff Nurses 2nd Advanced Practice Nurses

A neonatal nurse is a professional with special training, skill, and knowledge in the care of newborns and their families. The neonatal nurse is accountable to the patient, profession, and employer. Failure of the neonatal nurse to meet these obligations can result in liability in the profession, liability in the employment, a civil suit, or a criminal conviction. Regardless of the health care setting, professional nurses, whether at the bedside or in advanced practice, are morally, ethically, and legally accountable for their nursing judgments and actions. Although most nurses assume they will never be named in a lawsuit, and it is true that few are, their professional actions can be the focus of a suit. An overview of the legal implications found within neonatal nursing practice is presented. Two recent legal cases are presented and discussed to illustrate neonatal nursing and advanced practice liability.     

Genome-wide association studies in preterm birth: implications for the practicing obstetrician-gynaecologist

Preterm birth has the highest mortality and morbidity of all pregnancy complications. The burden of preterm birth on public health worldwide is enormous, yet there are few effective means to prevent a preterm delivery. To date, much of its etiology is unexplained, but genetic predisposition is thought to play a major role. In the upcoming year, the international Preterm Birth Genome Project (PGP) consortium plans to publish a large genome wide association study in early preterm birth. Genome-wide association studies (GWAS) are designed to identify common genetic variants that influence health and disease. Despite the many challenges that are involved, GWAS can be an important discovery tool, revealing genetic variations that are associated with preterm birth. It is highly unlikely that findings of a GWAS can be directly translated into clinical practice in the short run. Nonetheless, it will help us to better understand the etiology of preterm birth and the GWAS results will generate new hypotheses for further research, thus enhancing our understanding of preterm birth and informing prevention efforts in the long run.     

Sketching the Future: Trends Influencing Nursing Informatics

Technologies emerging in the fields of telecommunications, video and digital imaging, and microprocessing are shaping the future of nursing practice. To measure up to the future needs of nursing, nurses of today must have the vision and desire to become computer aware and technologically literate. Hypothetical future situations pose challenges related to current nursing informatics and artificial intelligence issues. Discussion includes technology issues related to the lifetime clinical health record. Areas that the Center for Nursing Research considers priorities for informatics suggest directions for nursing technology efforts. This article calls on all nurses to become active in designing and molding future clinical practice systems.     

Malpractice and the neonatal intensive-care nurse

Perinatal nursing has become a specialty vulnerable to litigation, due to parents' high expectations of health care providers' ability to monitor for adverse events and intervene appropriately to prevent harm. When a neonate is injured during the perinatal period, a frequent response is to look for someone to blame. Neonatal nursing is considered a specialty area, requiring specialized knowledge and training. By adhering to recognized and accepted internal and external policies, neonatal nurses will uphold the standard of care set for their area of practice and avoid legal liability.     

Women's health nursing in the context of the National Health Information Infrastructure

Nurses must be prepared to participate in the evolving National Health Information Infrastructure and the changes that will consequently occur in health care practice and documentation. Informatics technologies will be used to develop electronic health records with integrated decision support features that will likely lead to enhanced health care quality and safety. This paper provides a summary of the National Health Information Infrastructure and highlights electronic health records and decision support systems within the context of evidence-based practice. Activities at the Columbia University School of Nursing designed to prepare nurses with the necessary informatics competencies to practice in a National Health Information Infrastructure-enabled health care system are described. Data are presented from electronic (personal digital assistant) encounter logs used in our Women's Health Nurse Practitioner program to support evidence-based advanced practice nursing care. Implications for nursing practice, education, and research in the evolving National Health Information Infrastructure are discussed.     

Reaching Collaboration Through Empowerment: A Developmental Process

Nurses are well positioned to play an influential role in health care reform. As the concept of collaboration takes on new meanings, nurses must be prepared to function in interdisciplinary groups. They need to move from a unidisciplinary model of problem solving through a nursing approach to a multidisciplinary model, where different professions work as equal members of a team. The ultimate goal is to reach an interdisciplinary model in which team members from a variety of disciplines modify their perspective in light of other perspectives. Empowerment is viewed as an individual developmental process that occurs in stages during a period of time. Nurses will be better able to collaborate in an egalitarian manner once they have personally become empowered. It is up to nursing to seize the opportunity to become an equal partner in today's health care.