Mary Cipriano Silva, PhD, RN, FAAN
Citation: Silva, M. (September 30, 2000): The Genetic Revolution: What? Why? How? Online Journal of Issues in Nursing. Vol. 5, No. 3, Overview. Available www.nursingworld.org/MainMenuCategories/ANAMarketplace/ANAPeriodicals/OJIN/TableofContents/Volume52000/No3Sept00/TheGeneticRevolutionWhatWhyHow.aspx
Within the past decade the genetic revolution has exploded. This explosion has been largely the result of identifying the Human Genome. The knowledge gained is important because it can be used to diagnose, manage, and even cure diseases, although opportunities for its misuse is a pressing ethical concern. This issue focuses on an overview of the genetic revolution and its applications for clinical nursing practice.
In the lead article, Jenkins provides an historical perspective on the science of genetics from prior to the 18th century to the present. She notes that modern day genetics was initiated by The Human Genome Project, which was funded by Congress in 1988 and whose goals are still ongoing until at least 2003. She then discusses the implications of the project for medical and for nursing education, as well as for professional societies. She identifies three such societies/organizations: International Society of Nurses in Genetics (ISONG); National Coalition for Health Professional Education in Genetics (NCHPEG); and American Association of Colleges of Nursing (AACN). She expresses concern about the lack of genetic content in nursing curricula, in continuing education, and in advanced nursing practice. She concludes by discussing ethical considerations and by presenting present and future challenges related to the genetic revolution.
In the second article, Grant focuses on prenatal genetic screening. She discusses two types of screening: screening for risk and screening by history. As a result of these screening processes, common birth disorders such as neural tube defects and chromosome abnormalities such as Down syndrome (trisomy 21) can be identified. Grant discusses cutting edge screening tests such as the maternal serum alpha-fetoprotein (MSAFP) test, as well as the more commonly accepted procedures such as ultrasound. She is sensitive to the psychological aspects of screening, especially for women with a positive screening result, a false positive result, or a false negative result. Finally, she discusses the nurse’s roles in pregnancy screening and presents two case studies related to screening.
In the third article, Williams and Schutte focus on genetic testing, Huntington’s Disease (HD), and a connection between emerging genetic data and mental health disorders. They begin by describing the nature of HD and of HD genes, followed by a discussion of presymptomatic genetic testing. They also note ethical issues such as informed consent and genetic privacy. They conclude their article with a HD case study and discussion about the case. Integrated within the article are several Web sites related to genetic conditions and genetic specialists.
In the fourth article, Karen Greco and Matt Bayan alert readers to a genetic alteration identified as low-density lipoprotein (LDL) pattern B, which increases the risk of a heart attack threefold. The authors then present the second author’s story of surviving 72 cardiac arrests during a heart attack at age 45. The authors discuss how the typical profile and treatment of a heart attack patient does not exist, especially those with the LDL pattern B. They review the current state of laboratory tests for hereditary LDL, as well as management of this genetic alteration. They also stress the importance of a comprehensive family history. Finally, the authors identify five Web sites related to the heart and two laboratories that test for small particle lipid syndrome.
In the fifth article, Lea reinforces the previous articles, as well as introduces some new concepts. She introduces readers to genetics service models and to specific nurses’ roles within these models (e.g. genetics advanced practice nurses, genetic nurse specialists, and genetic nurse counselors). She then details how gene chips and genetic profiling, pharmacogenetics, gene therapy and genetic engineering, and information technologies and telemedicine have begun to alter the way health care is defined, delivered, and received by patients. Finally, Lea discusses the ethical, legal, and social implications of the genetic revolution and offers seven genetic resources available on the Web.
We hope the articles in this issue give you pause for thought regarding the nature of genetics and its implications for nursing education and practice. If your interest has been increased, look for an upcoming genetics article by Owen Barr from the United Kingdom. In this article Barr will explore the emerging field of genetics in relation to key factors involved in accessing and utilizing personal genetic information so as to help nurses and other health care professionals work sensitively with individuals and families as they receive personal genetic information. In the meantime, what are you doing to upgrade your knowledge and skills about a topic that will profoundly influence your life and that of the lives of future generations?
© 2000 Online Journal of Issues in Nursing
Article published September 30, 2000