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Current Issues: Implications of Advances in Human Genetics for Rehabilitation Nursing
The genetic revolution is here, a revolution some say may have a greater impact on medical science and practice than the discovery and use of penicillin. The Human Genome Project of the U.S. Department of Energy Office of Science, begun in 1990 and completed in 2003, has generated a working draft of 90% of the human genome (genetic material) and obtained a complete, high-quality genomic sequence, among other advances (Doegenomes.org: Genome Programs of the U.S. Department of Energy Office of Science, 2003).
These findings are significant because genes give instructions for the maintenance of body functions, including transmitting messages between cells, fighting infection, directing cells to “turn on” or “turn off” (e.g., insulin-secreting cells in the pancreas “turn on” in response to an increased blood sugar level), forming tissue and other organic structures, as well as playing a part in the sensing of light, taste, and smell (Jegalian, 2000). Gene alterations or mutations play a role in many major chronic disabling and fatal conditions, including diabetes and cancer, as well as kidney disease, Alzheimer’s disease, and cardiovascular disease. The identification of the specific genes responsible for these and other medical conditions continues to increase knowledge and lead to discoveries of more effective therapies and preventive measures. In addition, pharmacologic treatment likely will become highly individualized as the understanding of the role that genes play in drug metabolism grows and the responses to drugs are genetically determined (Bowers, 2002).
As the findings of genetic research are brought into the clinical setting, it is believed that the present number of genetics specialists will not be able to meet the nation’s genetic healthcare needs (Guttmacher, Jenkins, & Uhlman, 2001). Therefore, nurses are expected to take a much more active role in meeting these needs.
Nurses’ duty and responsibilities
There are several sources that document a nurse’s responsibility to integrate new genetic information into nursing practice, including nurses working in the rehabilitation setting. The Rehabilitation Nursing Professional Performance Standard II states that “the rehabilitation nurse evaluates his or her own nursing practice in relation to professional practice standards and relevant statutes and regulations,” and Standard III states, “the rehabilitation nurse acquires and maintains current knowledge in nursing practice” (Derstine & Hargrove, 2001). The American Nurses Association [ANA] and International Society of Nurses in Genetics [ISONG] Statement on the Scope and Standards of Genetics Clinical Nursing Practice (1998) states that all licensed nurses have a responsibility and a role in the delivery of genetics services and the management of genetic information. Nurses in all practice settings are expected to have enough genetic knowledge to identify, refer, support, and care for people affected by genetic conditions, or at risk for manifesting or transmitting genetic conditions (ANA & ISONG).
Although patients with a suspected genetic condition should be referred to genetic specialists, rehabilitation nurses can help patients understand the inheritability of their conditions, reinforce information about inherited risks, and assess the patient’s knowledge of the financial, social, and medical implications of their genetic condition. The nurse’s knowledge of the implications of managing genetic information, such as informed consent, maintaining confidentiality, and privacy, is paramount. A national interdisciplinary group, the National Coalition for Health Professional Education in Genetics [NCHPEG], has developed healthcare provider competencies to integrate genetic knowledge, skills, and attitudes while delivering care to patients (National Coalition for Health Professional Education in Genetics [NCHPEG], 2001). Finally, there is a significant amount of genetic information in the lay press that rehabilitation nurses can expect to address when patients approach them with basic genetics- related questions or requests for genetic services.
For a convincing illustration of how a rehabilitation nurse can use knowledge of genetics to improve care delivery, consider the genetic condition Factor V Leiden, the most common inherited form of thrombophilia. Factor V Leiden is an alteration in blood coagulation that results in venous thromboembolism, and some individuals experience multiple occurrences of thromboembolism before their 30th birthday (Kujovich, 2004). Factor V Leiden has varying clinical pictures based upon the actual number of altered genes. For instance, if a patient has two copies of the altered gene, the risk of developing a deep vein thrombosis (DVT) is about 25–50 times greater than for a person without any copies of the altered gene (Ornstein & Cushman, 2003). If a rehabilitation nurse has a patient who experiences a DVT and/or embolism, a detailed, three-generation, family history would be very important to obtain. The nurse should be alert to a family history that contains occurrences of DVT, pulmonary embolisms, or multiple stillbirths or miscarriages (Kujovich, 2004). Other examples that should alert nurses to explore genetic causes include patients with hypertrophic cardiomyopathy or an extremely high cholesterol level and a strong family history of cardiac events (history of chest pain, myocardial infarctions or sudden, unexplained death occurring earlier than 50 years of age).
In such situations, the rehabilitation nurse should consider initiating a referral to genetic specialists, if possible, who can provide the patient with information related to heritability that can assist the patient in making reproductive decisions and adjusting their presymptomatic and symptomatic lifestyles. If genetic testing options are available, they can confirm the patient’s genetic status and also may validate the need for lifestyle changes and close medical management. Presymptomatic management for a patient with Factor V Leiden gene alteration would include maintaining ideal body weight and adequate hydration; exercising regularly; quitting or avoiding smoking; and avoiding alcohol and prolonged immobility. Women with Factor V Leiden who are taking oral contraceptive pills have about a 35-fold increased risk of developing a DVT or pulmonary embolism than women who do not have the altered gene (Ornstein & Cushman, 2003); therefore, such women may choose to discontinue or avoid their use. The motivation to make lifestyle modifications is often higher with knowledge of a definitive risk factor such as a gene alteration. Medical management, once symptoms manifest, may include the use of elastic stockings, compression boots, and oral or peripheral anticoagulants during prolonged immobility.
One on-line genetic resource for nurses is the Gene Tests–Gene Clinics Web site (www.genetests.org), which publishes directories of laboratories that perform genetic testing and genetics clinics in the United States that offer genetic services, evaluation, and counseling as well as disease-specific information. The University of Kansas Medical Center (http://www.kumc.edu/gec/prof/ genecntr.html) also provides a comprehensive listing of genetic counseling with links to genetic clinics and/or university genetic centers.
Patients frequently report they want nurses to have knowledge of their conditions and get frustrated and disillusioned when they hear, “I don’t know what that is,” or “What is that?” from nurses and other healthcare providers (Cincinnati Children’s Hospital Medical Center Genetics Program for Nursing Faculty, 2002). The patient’s trust in their nurse diminishes substantially, and the patient must then educate the nurse. Nurses should have a working knowledge of Mendelian inheritance patterns, such as autosomal dominant, which is linked with hypercholesterolemia; autosomal recessive, the inheritance pattern for Friedreich’s ataxia; and X-linked recessive, which is linked with Duchenne muscular dystrophy. An understanding of multifactorial inheritance also is important because it will be used for patients—particularly pediatric patients—with, among other conditions, neural tube malformations. Both the Gene Tests –Gene Clinics Web site and Online Mendelian Inheritance in Man [OMIM] at http://tinyurl. com/4m5bg provide information about genetic disorders and their inheritance patterns. However, the OMIM Web site is more technical and may be harder to understand for the novice in genetics.
A resource for help with terminology is the Talking Glossary of Genetic Terms, available online at http://www.genome. gov/10002096. Another excellent online resource is Genetics Home Reference: Your Guide to Understanding Genetics, at http://ghr.nlm.nih.gov/ghr/page/Home. This one-stop resource provides a wealth of information and education materials for those beginning to build their genetics knowledge, as well as those with more advanced knowledge.
There are resources available for nursing continuing education in genetics, including several online continuing education options, journal articles, and texts. An excellent text is F.R. Lashley’s Clinical genetics in nursing practice (2nd ed.), a 1998 Springer publication. Another resource is an online book available in PDF format, Your Genes, Your Choices: Exploring the Issues Raised by Genetic Research. This book, written for a lay audience, is available at http://tinyurl.com/ 3p56j and provides thought-provoking applications of patient genetic situations. Some excellent online continuing education resources include the March of Dimes [MOD] Genetics and Your Practice, at www.marchofdimes.com/gyponline, and the Genetics Education Program for Nurses, at http://tinyurl. com/4c75u. Nursing Spectrum currently has three online continuing education offerings in genetics essentials, risk assessment, and testing at http://tinyurl.com/ 6t6c5. An expanded version of the MOD Genetics and Your Practice is available on CD-ROM for a very nominal price (800/367-6630; order #09-1642-03). This CD includes basic information that is not included online; nursing contact hours can be earned for continuing education credit. An excellent listing of online genetic resources for a variety of topics too numerous to list separately can be found at http://tinyurl. com/3kjoo.
Finally, educational materials about genetics and genomics for students, teachers, and the general public can be found at http://www.genome.gov/Education/. Rehabilitation nurses also can investigate genetics or genetics nursing course offerings at a local college or university.
This is a very exciting time in health care, as genetic health care has moved from “classic” genetic conditions of relatively small populations, such as cystic fibrosis and sickle cell disease, to genetic health care for all (Guttmacher et al., 2001). Patient expectations regarding nurses’ knowledge of genetics are growing. Consequently…think genetics!
American Nurses Association & International Society of Nurses in Genetics, Inc. (1998). Statement on the scope and standards of genetics clinical nursing practice. Washington, DC: American Nurses Publishing.
Bowers, N.R. (2002). Meeting the standard of genetic nursing care. JSPN: The Journal for Specialists in Pediatric Nursing, 7, 123–126.
Cincinnati Children’s Hospital Medical Center [CCHMC] Genetics Program for Nursing Faculty (Producer). (2002). Perspectives on genetic conditions: Sharing the journey [videotape]. (Available from the CCHMC Genetics Program for Nursing Faculty, firstname.lastname@example.org or 513/636-0123)
Derstine J.B. & Hargrove, S.D. (2001). Comprehensive rehabilitation nursing. Philadelphia: Saunders.
Doegenomes.org: Genome Programs of the U.S. Department of Energy Office of Science. (2003, April). Highlights of the new 5-year plan for the U.S. Human Genome Project. Retrieved November 3, 2004, from htttp:// tinyurl.com/4zadd
Guttmacher, A.E., Jenkins, J., & Uhlman, W.R. (2001). Genomic medicine: Who will practice it? A call to open arms. American Journal of Medical Genetics, 106, 216–222.
Jegalian, K. (2000). Genetics: The future of medicine (NIH Publication No. 00-4873). Washington, DC: National Human Genome Research Institute, National Institutes of Health.
Kujovich, J.L. (2004). Factor V Leiden thrombophilia. Retrieved October 7, 2004, from http://geneclinics.org
National Coalition for Health Professional Education in Genetics (NCHPEG). (2001). Core competencies in genetics essential for all health-care professionals. Retrieved December 4, 2004 from http://www.nchpeg.org
Ornstein, D.L. & Cushman, M. (2003). Factor V Leiden. Circulation. Retrieved October 21, 2004, from http://www.circulationaha.org
United States Department of Energy Genome Programs. (2003). Genomics and its impact on science and society: The human genome project and beyond. Retrieved June 28, 2003, from http://www.ornl.gov/hgmis/pub licat/primer/
Nancy R. Bowers is an associate professor in the Nursing Department of the University of Cincinnati, in Cincinnati, OH. Address correspondence to Nancy Bowers, Nursing Department, University of Cincinnati, Raymond Walters College, 9555 Plainfield Road, Cincinnati, OH 45236.